Ieuan Hughes

Q: What Schools Are Affiliated With Ieuan Hughes

Ieuan Hughes is affiliated with the following schools: Stanford University, Johns Hopkins University, University of California, San Francisco, University of Cambridge, Harvard University

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Ieuan Hughes

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#9198

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#3758

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#4962

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Philosophy

Ieuan Hughes's Degrees

Doctorate Medicine University of California, San Francisco
PhD Endocrinology Stanford University

Why Is Ieuan Hughes Influential?

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According to Wikipedia, Ieuan Arwel Hughes is a paediatric endocrinologist and an emeritus professor of paediatrics at the University of Cambridge. Hughes is most notable for long-standing research into disorders of sex development , established one of the largest and most comprehensive databases of cases of DSD including publishing the Consensus on DSD management framework which, barely eight years after its publication, is now already accepted worldwide as the framework for care of patients and families with DSD.

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Ieuan Hughes's Published Works

Number of citations in a given year to any of this author's works

Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author

Published Works

Consensus Statement on Management of Intersex Disorders (2006) (2066)
Androgen insensitivity syndrome (2012) (482)
Consensus statement on management of intersex disorders (2006) (472)
Consensus statement on management of intersex disorders. International Consensus Conference on Intersex. (2006) (464)
Small for gestational age: short stature and beyond. (2007) (457)
Pituitary-gonadal relations in infancy: 2. Patterns of serum gonadal steroid concentrations in man from birth to two years of age. (1976) (352)
Calcium-sensing receptor mutations in familial benign hypercalcemia and neonatal hyperparathyroidism. (1995) (343)
Phenotypic features, androgen receptor binding, and mutational analysis in 278 clinical cases reported as androgen insensitivity syndrome. (2000) (343)
Disorders of sex development: a new definition and classification. (2008) (285)
Psychological Outcomes and Gender-Related Development in Complete Androgen Insensitivity Syndrome (2003) (277)
Summary of Consensus Statement on Intersex Disorders and Their Management (2006) (214)
Heterozygous missense mutations in steroidogenic factor 1 (SF1/Ad4BP, NR5A1) are associated with 46,XY disorders of sex development with normal adrenal function. (2007) (204)
Testicular development in the complete androgen insensitivity syndrome (2006) (179)
In-utero androgen exposure and 2nd to 4th digit length ratio-comparisons between healthy controls and females with classical congenital adrenal hyperplasia. (2003) (179)
Society for Endocrinology UK guidance on the initial evaluation of an infant or an adolescent with a suspected disorder of sex development (Revised 2015) (2015) (178)
Androgen receptor gene CAG repeat polymorphism in the development of ovarian hyperandrogenism. (2003) (170)
Anogenital Distance from Birth to 2 Years: a Population Study (2009) (167)
The descriptive epidemiology of congenital and acquired cryptorchidism in a UK infant cohort (2009) (164)
Factors controlling testis descent. (2008) (154)
Anogenital distance as a marker of androgen exposure in humans (2016) (153)
Monitoring of concordance in growth hormone therapy (2007) (152)
UK guidance on the initial evaluation of an infant or an adolescent with a suspected disorder of sex development (2011) (149)
Regulation of Wolffian Duct Development (2006) (149)
Minireview: sex differentiation. (2001) (148)
Breast milk nutrient content and infancy growth (2016) (143)
Androgen receptor gene mutations identified by SSCP in fourteen subjects with androgen insensitivity syndrome. (1992) (135)
Consequences of the ESPE/LWPES guidelines for diagnosis and treatment of disorders of sex development. (2007) (127)
Androgen resistance. (2006) (125)
Androgen insensitivity syndrome. (2015) (124)
Consequences of the Chicago consensus on disorders of sex development (DSD): current practices in Europe (2009) (121)
Prenatal androgen exposure alters girls' responses to information indicating gender-appropriate behaviour (2016) (119)
Longer term outcome in females with congenital adrenal hyperplasia (CAH): the Cardiff experience (1997) (117)
Increased Cross-Gender Identification Independent of Gender Role Behavior in Girls with Congenital Adrenal Hyperplasia: Results from a Standardized Assessment of 4- to 11-Year-Old Children (2015) (111)
Anogenital Distance and Penile Length in Infants with Hypospadias or Cryptorchidism: Comparison with Normative Data (2013) (109)
Correlation between genotype, phenotype and sex of rearing in 111 patients with partial androgen insensitivity syndrome (2005) (100)
Changes Over Time in Sex Assignment for Disorders of Sex Development (2014) (100)
The application of a serum 17OH-progesterone radioimmunoassay to the diagnosis and management of congenital adrenal hyperplasia. (1976) (99)
The androgen receptor gene mutations database. (1994) (98)
Phenotypic variability in 17β‐hydroxysteroid dehydrogenase‐3 deficiency and diagnostic pitfalls (2007) (97)
Regarding the consensus statement on 21-hydroxylase deficiency from the Lawson Wilkins Pediatric Endocrine Society and the European Society for Paediatric Endocrinology. (2003) (92)
Assessment of the gonadotrophin–gonadal axis in androgen insensitivity syndrome (1999) (89)
Longer polyglutamine tracts in the androgen receptor are associated with moderate to severe undermasculinized genitalia in XY males. (2000) (89)
Novel Associations in Disorders of Sex Development: Findings From the I-DSD Registry (2013) (87)
Pregnancy Insulin, Glucose, and BMI Contribute to Birth Outcomes in Nondiabetic Mothers (2008) (87)
Mutation analysis of the 2 kb 5' to SRY in XY females and XY intersex subjects. (1996) (86)
Complete androgen insensitivity due to deletion of exon C of the androgen receptor gene highlights the functional importance of the second zinc finger of the androgen receptor in vivo. (1992) (86)
Predictors of Posttraumatic Stress in Parents of Children Diagnosed with a Disorder of Sex Development (2014) (85)
Deleterious missense mutations and silent polymorphism in the human 17beta-hydroxysteroid dehydrogenase 3 gene (HSD17B3). (1998) (83)
Androgen insensitivity syndrome: a survey of diagnostic procedures and management in the UK (1997) (83)
The use of GnRH agonists in precocious puberty. (2008) (81)
Genetic analysis of the INSL3 gene in patients with maldescent of the testis. (2001) (78)
Insulin-like growth factor I concentrations in infancy predict differential gains in body length and adiposity: the Cambridge Baby Growth Study. (2009) (78)
Residual activity of mutant androgen receptors explains wolffian duct development in the complete androgen insensitivity syndrome. (2004) (77)
Functional analysis of six androgen receptor mutations identified in patients with partial androgen insensitivity syndrome. (1996) (75)
Breastfeeding and Infant Temperament at Age Three Months (2012) (73)
Impact of the consensus statement and the new DSD classification system. (2010) (73)
No relationship between prenatal androgen exposure and autistic traits: convergent evidence from studies of children with congenital adrenal hyperplasia and of amniotic testosterone concentrations in typically developing children. (2016) (71)
Genital Anomalies in Klinefelter’s Syndrome (2007) (70)
The Long-Term Outcome of Boys With Partial Androgen Insensitivity Syndrome and a Mutation in the Androgen Receptor Gene (2016) (69)
Fatal infantile mitochondrial myopathy due to cytochrome c oxidase deficiency (1983) (68)
Tescalcin, a novel gene encoding a putative EF-hand Ca(2+)-binding protein, Col9a3, and renin are expressed in the mouse testis during the early stages of gonadal differentiation. (2001) (66)
Endocrine disrupting chemicals: a new and emerging public health problem? (2006) (66)
Reduced birth weight in boys with hypospadias: an index of androgen dysfunction? (2002) (66)
Inguinal hernia in female infants: a cue to check the sex chromosomes? (2005) (65)
The testosterone:androstenedione ratio in male undermasculinization (2000) (64)
Response to ACTH in the newborn. (1986) (63)
Short‐term effects on linear growth and bone turnover in children randomized to receive prednisolone or dexamethasone (2002) (62)
Age at Weaning and Infant Growth: Primary Analysis and Systematic Review (2015) (61)
Postnatal penile growth concurrent with mini-puberty predicts later sex-typed play behavior: Evidence for neurobehavioral effects of the postnatal androgen surge in typically developing boys (2015) (61)
Phenotypic diversity in siblings with partial androgen insensitivity syndrome (1997) (60)
Congenital adrenal hyperplasia—a continuum of disorders (1998) (60)
Plasma 17OH-progesterone concentrations in newborn infants. (1979) (59)
Prenatal paracetamol exposure is associated with shorter anogenital distance in male infants (2016) (57)
Mutational screening of the Wilms's tumour gene, WT1, in males with genital abnormalities. (1993) (56)
Identification of an AR Mutation-Negative Class of Androgen Insensitivity by Determining Endogenous AR Activity (2016) (56)
The genetics of male undermasculinization (2002) (56)
Human androgen receptor gene ligand-binding-domain mutations leading to disrupted interaction between the N- and C-terminal domains. (2006) (56)
Short‐term effects of prednisolone and dexamethasone on circulating concentrations of leptin and sex hormone‐binding globulin in children being treated for acute lymphoblastic leukaemia (2003) (52)
Insulin sensitivity and body composition in children with classical and nonclassical congenital adrenal hyperplasia (2010) (52)
Radioimmunoassay of 17 alpha-hydroxyprogesterone in saliva, parotid fluid, and plasma of congenital adrenal hyperplasia patients. (1979) (51)
Working memory performance is reduced in children with congenital adrenal hyperplasia (2015) (51)
Androgen Receptors in Bone-Forming Tissue (1999) (50)
Plasma 17-hydroxyprogesterone concentrations in ill newborn infants. (1983) (50)
Mutations of the androgen receptor gene identified in perineal hypospadias. (1993) (50)
Phenotypic variation and detection of carrier status in the partial androgen insensitivity syndrome. (1993) (50)
Intersex and gender assignment; the third way? (2004) (49)
Transient neonatal hyperthyrotrophinaemia: a serum abnormality due to transplacentally acquired antibody to thyroid stimulating hormone. (1983) (49)
Evidence that longer androgen receptor polyglutamine repeats are a causal factor for genital abnormalities. (2001) (49)
An Unbiased Lipidomics Approach Identifies Early Second Trimester Lipids Predictive of Maternal Glycemic Traits and Gestational Diabetes Mellitus (2016) (49)
The relationships between serum concentrations of 17OH-progesterone and other serum and urinary steroids in patients with congenital adrenal hyperplasia. (1978) (48)
Androgen Insensitivity Syndrome (2012) (47)
Human Milk Short-Chain Fatty Acid Composition is Associated with Adiposity Outcomes in Infants. (2019) (45)
Familial pseudohypoparathyroidism without somatic anomalies. (1980) (44)
Blood spot glucocorticoid concentrations in ill preterm infants. (1987) (44)
The translation of lipid profiles to nutritional biomarkers in the study of infant metabolism (2017) (44)
STUDIES OF THE ANDROGEN RECEPTOR IN DISPERSED FIBROBLASTS: INVESTIGATION OF PATIENTS WITH ANDROGEN INSENSITIVITY (1984) (43)
The relationship between diabetic control and individual and family characteristics. (1987) (42)
Serum Phthalate and Triclosan Levels Have Opposing Associations With Risk Factors for Gestational Diabetes Mellitus (2018) (41)
Associations Between Paternally Transmitted Fetal IGF2 Variants and Maternal Circulating Glucose Concentrations in Pregnancy (2011) (39)
Monitoring treatment in congenital adrenal hyperplasia. (1990) (38)
Radioiodine Treatment of Graves’ Disease in Young People (1998) (38)
Menarche and subsequent ovarian function in girls with congenital adrenal hyperplasia. (1982) (37)
Frequency of gonadal tumours in complete androgen insensitivity syndrome (CAIS): A retrospective case-series analysis. (2017) (37)
The use of salivary progesterone assays in the assessment of ovarian function in postmenarcheal girls. (1984) (37)
5 alpha-reductase deficiency without hypospadias. (1990) (36)
CHAPTER 16 – The Testes: Disorders of Sexual Differentiation and Puberty in the Male (2008) (36)
Management of congenital adrenal hyperplasia. (1988) (36)
Androgen Receptor Function Links Human Sexual Dimorphism to DNA Methylation (2013) (36)
A Rapid Assay for 17αOH-Progesterone in Plasma, Saliva and Amniotic Fluid Using a Magnetisable Solid-Phase Antiserum (1984) (34)
Control in congenital adrenal hyperplasia monitored by frequent saliva 17OH-progesterone measurements. (1984) (33)
Pituitary–gonadal axis in male undermasculinisation (2000) (33)
Ultrasound Estimates of Visceral and Subcutaneous-Abdominal Adipose Tissues in Infancy (2013) (32)
Cohort Profile: the Cambridge Baby Growth Study (CBGS) (2015) (32)
The role of androgens in fetal growth: observational study in two genetic models of disordered androgen signalling (2010) (32)
Low frequency of androgen receptor gene mutations in 46 XY DSD, and fetal growth restriction (2013) (32)
Developmental aspects of androgen action (2001) (31)
ANTENATAL DIAGNOSIS OF CONGENITAL ADRENAL HYPERPLASIA (1979) (31)
Associations of vomiting and antiemetic use in pregnancy with levels of circulating GDF15 early in the second trimester: A nested case-control study (2018) (31)
Characterization of nuclear thyroid hormone receptors of cultured skin fibroblasts from patients with resistance to thyroid hormone. (1987) (31)
Complete androgen insensitivity syndrome characterized by increased concentration of a normal androgen receptor in genital skin fibroblasts. (1986) (30)
Wide variation in androgen receptor dysfunction in complete androgen insensitivity syndrome (1997) (30)
Dexamethasone treatment for congenital adrenal hyperplasia. (1990) (30)
THE FIBROBLAST AS A MODEL FOR ANDROGEN RESISTANT STATES (1988) (30)
Androgen insensitivity in forty-nine patients: classification based on clinical and androgen receptor phenotypes. (1987) (29)
Substitution Mutation C268Y Causes 17β-Hydroxysteroid Dehydrogenase 3 Deficiency1 (2001) (29)
A wider perspective on puberty (2006) (29)
Maternally transmitted foetal H19 variants and associations with birth weight (2011) (29)
Congenital adrenal hyperplasia: phenotype and genotype. (2002) (29)
AUGMENTATION OF ANDROGEN‐RECEPTOR BINDING IN VITRO: STUDIES IN NORMALS AND PATIENTS WITH ANDROGEN INSENSITIVITY (1985) (28)
Associations Between Fetal Imprinted Genes and Maternal Blood Pressure in Pregnancy (2016) (28)
Prenatal diagnosis of congenital adrenal hyperplasia: reliability of amniotic fluid steroid analysis. (1987) (28)
Autosomal recessive segregation of a truncating mutation of anti-Müllerian type II receptor in a family affected by the persistent Müllerian duct syndrome contrasts with its dominant negative activity in vitro. (2001) (27)
A novel mutation in the human androgen receptor suggests a regulatory role for the hinge region in amino-terminal and carboxy-terminal interactions. (2008) (27)
8 Androgen insensitivity syndrome (1994) (27)
Congenital Adrenal Hyperplasia: A Lifelong Disorder (2007) (27)
Continuing need for mineralocorticoid therapy in salt-losing congenital adrenal hyperplasia. (1979) (26)
Response to treatment of congenital adrenal hyperplasia in infancy. (1990) (26)
Concomitant Mutations in the P450 Oxidoreductase and Androgen Receptor Genes Presenting with 46,XY Disordered Sex Development and Androgenization at Adrenarche (2010) (26)
The androgen receptor and stem cell pathways in prostate and bladder cancers (review). (2011) (26)
Candidate genes in complete and partial XY sex reversal: Mutation analysis of SRY, SRY-related genes and FTZ-F1 (1998) (25)
Two de novo mutations in the AR gene cause the complete androgen insensitivity syndrome in a pair of monozygotic twins. (2002) (25)
An autosomal dominant form of adolescent multinodular goiter. (1986) (25)
Clinical and molecular evidence for the role of androgens and WT1 in testis descent (2001) (24)
Androgen dependent stimulation of aromatase activity in genital skin fibroblasts from normals and patients with androgen insensitivity (1991) (24)
Normal postnatal androgen production and action in isolated micropenis and isolated hypospadias. (1991) (24)
Randomized, Crossover Comparison Study of the Short-term Effect of Oral Testosterone Undecanoate and Intramuscular Testosterone Depot on Linear Growth and Serum Bone Alkaline Phosphatase (2004) (24)
Care of the Child with Diabetes (1987) (23)
Simultaneous Plasma and Saliva Steroid Measurements as an Index of Control in Congenital Adrenal Hyperplasia (CAH) (1982) (23)
Aromatase activity in genital skin fibroblasts from normal and androgen-insensitive individuals. (1990) (23)
Sexual dimorphism in the neonatal gonad (1999) (23)
Steroids and growth. (1987) (23)
Premature adrenarche (2011) (23)
Early management and gender assignment in disorders of sexual differentiation. (2007) (23)
Androgen insensitivity syndrome. (1993) (22)
Maternal serum concentrations of bisphenol A and propyl paraben in early pregnancy are associated with male infant genital development. (2020) (22)
Vomiting in pregnancy is associated with a higher risk of low birth weight: a cohort study (2018) (22)
Short‐term growth and bone turnover in children undergoing occlusive steroid (‘Wet‐Wrap’) dressings for treatment of atopic eczema (2003) (22)
Birth Weight in Different Etiologies of Disorders of Sex Development (2015) (22)
Prenatal androgen exposure and children's aggressive behavior and activity level (2017) (22)
Releasing the brake on puberty. (2013) (21)
Androgen insensitivity with mental retardation: a contiguous gene syndrome? (1997) (21)
Congenital and acquired disorders of the adrenal cortex. (1982) (21)
Congenital adrenal hyperplasia: transitional care. (2004) (21)
Associations between a fetal imprinted gene allele score and late pregnancy maternal glucose concentrations (2017) (20)
United Kingdom multicentre clinical trial of somatrem. (1987) (20)
Comparison of the molecular consequences of different mutations at residue 754 and 690 of the androgen receptor (AR) and androgen insensitivity syndrome (AIS) phenotype (2009) (20)
The quiet revolution: Disorders of sex development. (2010) (20)
Androgen insensitivity syndrome (2014) (19)
Effect of inhaled beclomethasone dipropionate on saliva cortisol concentrations. (1984) (19)
A novel explanation for resistance to androgens. (2000) (18)
Is surgical exploration necessary in bilateral anorchia? (2013) (18)
Early Pregnancy-Associated Plasma Protein A Concentrations Are Associated With Third Trimester Insulin Sensitivity (2017) (18)
Society for Endocrinology UK Guidance on the initial evaluation of a suspected difference or disorder of sex development (Revised 2021) (2021) (18)
Five novel androgen receptor gene mutations associated with complete androgen insensitivity syndrome (2006) (18)
Consequences of the Chicago DSD Consensus: A Personal Perspective (2015) (17)
Spontaneous endocrine cure of gigantism due to pituitary apoplexy. (1983) (17)
Congenital adrenal hyperplasia: 21-hydroxylase deficiency in the newborn and during infancy. (2002) (17)
How should we classify intersex disorders? (2010) (17)
Treatment of hyperthyroidism in young people (1998) (17)
Changes in Gene Expression during Wolffian Duct Development (2006) (16)
Genetic mechanisms of fetal male undermasculinization: a background to the role of endocrine disruptors. (2006) (16)
Endocrine Genetics and Genetics of Growth (1984) (16)
Reduced size at birth and persisting reductions in adiposity in recent, compared with earlier, cohorts of infants born to mothers with gestational diabetes mellitus (2019) (16)
Novel application of luciferase assay for the in vitro functional assessment of KAL1 variants in three females with septo-optic dysplasia (SOD) (2015) (16)
Substitution mutation C268Y causes 17 beta-hydroxysteroid dehydrogenase 3 deficiency. (2001) (15)
Handbook of endocrine tests in children (1986) (15)
Promoter-Dependent Activity on Androgen Receptor N-Terminal Domain Mutations in Androgen Insensitivity Syndrome (2014) (15)
Real-World Estimates of Adrenal Insufficiency–Related Adverse Events in Children With Congenital Adrenal Hyperplasia (2020) (15)
Circumcision for preventing urinary tract infections in boys : North American view (2005) (15)
Mutation analysis of subjects with 46, XX sex reversal and 46, XY gonadal dysgenesis does not support the involvement of SOX3 in testis determination (2000) (15)
Biological assessment of abnormal genitalia. (2012) (14)
Disorders of Sexual Differentiation (2007) (14)
Anogenital distance in healthy Infants:Method-, age- and sex-related reference ranges. (2020) (14)
Radioimmunoassay of Blood-Spot 17α-Hydroxyprogesterone in the Management of Congenital Adrenal Hyperplasia (1987) (14)
Female development--all by default? (2004) (14)
Confusing terminology attempts to define the undefinable (2006) (14)
Advances in Gene Technology: Molecular Biology of the Endocrine System (1987) (13)
Evidence that luteinising hormone receptor polymorphisms may contribute to male undermasculinisation. (2002) (13)
The association between age at menarche and later risk of gestational diabetes is mediated by insulin resistance (2018) (13)
Characterization of a novel mutant human thyroid hormone receptor β in a family with hereditary thyroid hormone resistance (1993) (12)
Mild androgen insensitivity presenting with sexual dysfunction. (1986) (12)
Predicting puberty in partial androgen insensitivity syndrome: Use of clinical and functional androgen receptor indices (2018) (12)
Associations between the maternal circulating lipid profile in pregnancy and fetal imprinted gene alleles: a cohort study (2018) (11)
Early diagnosis of salt-losing congenital adrenal hyperplasia in a newborn boy. (1977) (11)
Management of fetal endocrine disorders. (2003) (11)
Value of selective screening for congenital adrenal hyperplasia in Hungary. (1989) (11)
Androgen insensitivity syndrome. (1992) (11)
Genetic evidence to exclude the androgen receptor co‐factor, ARA70 (NCOA4) as a candidate gene for the causation of undermasculinised genitalia (2001) (11)
Role of the androgen receptor in male sexual differentiation. (1992) (11)
Early diagnosis of 11 beta-hydroxylase deficiency in two siblings confirmed by analysis of a novel steroid metabolite in newborn urine. (1986) (10)
Mutation analysis of subjects with 46, XX sex reversal and 46, XY gonadal dysgenesis does not support the involvement of SOX3 in testis determination (2004) (10)
RWDD1 interacts with the ligand binding domain of the androgen receptor and acts as a coactivator of androgen-dependent transactivation (2012) (10)
Temporal Trends in Maternal Food Intake Frequencies and Associations with Gestational Diabetes: The Cambridge Baby Growth Study (2019) (9)
Temporal trends without seasonal effects on gestational diabetes incidence relate to reductions in indices of insulin secretion: the Cambridge Baby Growth Study (2019) (9)
Variable Loss of Functional Activities of Androgen Receptor Mutants in Patients with Androgen Insensitivity Syndrome (2013) (9)
Prenatal diagnosis of androgen insensitivity (1994) (9)
The clinical assessment of intersex (2000) (9)
Localisation of androgen receptors in dermal fibroblasts, grown in vitro, from normal subjects and from patients with androgen insensitivity syndrome. (1995) (9)
Incidence of disorders of sexual development in neonates in Ghana: prospective study (2019) (9)
Emotional and behavioral adjustment in 4 to 11-year-old boys and girls with classic congenital adrenal hyperplasia and unaffected siblings (2018) (9)
Prenatal Treatment of Congenital Adrenal Hyperplasia (2006) (8)
Androgen dependent mechanisms of pro-angiogenic networks in placental and tumor development. (2017) (8)
Age at Menarche and Blood Pressure in Pregnancy. (2019) (8)
Associations between bacterial infections and blood pressure in pregnancy (2017) (8)
Clinical Experience during the Paediatric Undergraduate Course (1999) (8)
Which infancy growth parameters are associated with later adiposity? The Cambridge Baby Growth Study (2020) (8)
Gonadectomy In Conditions Affecting Sex Development - A Registry-Based Cohort Study. (2021) (7)
No relationship between prenatal or early postnatal androgen exposure and autistic traits: evidence using anogenital distance and penile length measurements at birth and 3 months of age. (2020) (7)
Congenital adrenal hyperplasia (1990) (7)
Evidence from 3-month-old infants shows that a combination of postnatal feeding and exposures in utero shape lipid metabolism (2019) (7)
Steroid receptor coactivator-3 glutamine repeat polymorphism and the androgen insensitivity syndrome. (2003) (7)
Simultaneous plasma and saliva steroid measurements as an index of control in congenital adrenal hyperplasia (CAH): A longitudinal study (1981) (7)
Lipid ratios representing SCD1, FADS1, and FADS2 activities as candidate biomarkers of early growth and adiposity. (2021) (6)
Comparison of two androgen receptor assays using skin and cultured fibroblasts (1981) (6)
Hormone rhythms and breast cancer chronoepidemiology: salivary progesterone concentrations in pre- and post-menarchal girls and in normal premenopausal women. (1984) (6)
Down syndrome in association with features of the androgen insensitivity syndrome. (1996) (6)
Multiple Micronutrient Supplementation during Pregnancy and Increased Birth Weight and Skinfold Thicknesses in the Offspring: The Cambridge Baby Growth Study (2020) (6)
Adrenal Disease in Childhood: Clinical and Molecular Aspects (2000) (6)
Prevalence of hypospadias in the same geographic region as ascertained by three different registries. (2007) (6)
Medical and Psychological Management of Congenital Adrenal Hyperplasia (1984) (6)
Prenatal androgen exposure and children's gender-typed behavior and toy and playmate preferences (2020) (6)
The dilemma of the gender assignment in a Portuguese adolescent with disorder of sex development due to 17β-hydroxysteroid-dehydrogenase type 3 enzyme deficiency (2014) (6)
A perspective on perspectives (2005) (5)
A Cell Model for Conditional Profiling of Androgen-Receptor-Interacting Proteins (2012) (5)
The masculinized female and investigation of abnormal sexual development. (1998) (5)
Male pseudohermaphroditism: clinical management, diagnosis and treatment. (1992) (5)
Associations between Maternal Iron Supplementation in Pregnancy and Changes in Offspring Size at Birth Reflect Those of Multiple Micronutrient Supplementation (2021) (5)
A perspective on stem cells by a clinician. (2004) (5)
Initial evaluation of congenital hypothyroidism: a survey of general paediatricians in East Anglia (1997) (5)
The relationship between von Willebrand factor antigen and fibronectin in human plasma, endothelial cells and fibroblasts in culture. (1986) (5)
A diagnostic curiosity of isolated androstenedione elevation due to autoantibodies against horseradish peroxidase label of the immunoassay. (2018) (5)
Genetic evidence to exclude the androgen receptor-polyglutamine associated coactivator, ARA-24, as a cause of male undermasculinisation. (2001) (5)
Salivary 17 alpha-hydroxyprogesterone in congenital adrenal hyperplasia. (1979) (5)
Normal and abnormal sexual differentiation (2010) (5)
Prenatal treatment of congenital adrenal hyperplasia : do we have enough evidence? (2006) (5)
Nuclear receptor action involved with sex differentiation (2003) (4)
GDF15 Concentrations in Maternal Serum Associated with Vomiting in Pregnancy: the Cambridge Baby Growth Study (2017) (4)
4.04 – Hypothalamic–Pituitary–Adrenal Axis: Congenital Adrenal Hyperplasia (2017) (4)
Neonatal endocrine and metabolic emergencies. (1980) (4)
Deficiency of 17-ketoreductase presenting before puberty. (1993) (4)
Extensive Study of Breast Milk and Infant Growth: Protocol of the Cambridge Baby Growth and Breastfeeding Study (CBGS-BF) (2021) (4)
Benign intracranial hypertension after ciprofloxacin administration (2007) (4)
Growth, puberty and testicular function in boys born small for gestational age with a nonspecific disorder of sex development (2021) (4)
Folic acid supplementation during pregnancy and associations with offspring size at birth and adiposity: a cohort study (2021) (3)
The influence of maternal pregnancy glucose concentrations on associations between a fetal imprinted gene allele score and offspring size at birth (2018) (3)
Clinical aspects of congenital adrenal hyperplasia: Early diagnosis and prognosis (1986) (3)
Testosterone Therapy and Its Monitoring in Adolescent Boys with Hypogonadism: Results of an International Survey from the I-DSD Registry (2021) (3)
Bloodspot Testosterone Assay Suitable for Study of Neonates and Monitoring of Children with Congenital Adrenal Hyperplasia (1999) (3)
Asymptomatic Testicular Adrenal Rest Tumours (2004) (3)
Pregnancy Serum DLK1 Concentrations Are Associated With Indices of Insulin Resistance and Secretion (2021) (3)
OBSTETRICAL AND GYNECOLOGICAL SURVEY: THE APPLICATION OF A SERUM 170H-PROGESTERONE RADIOIMMUNOASSAY TO THE DIAGNOSIS AND MANAGEMENT OF CONGENITAL ADRENAL HYPERPLASIA (1977) (3)
CHAPTER 6 – The Gonads (1986) (3)
Biology of Fetal Sex Development (2018) (3)
Human Growth: A Multidisciplinary Review (1987) (3)
Precocious puberty and its management. (1983) (3)
Maternal Paracetamol Intake During Pregnancy—Impacts on Offspring Reproductive Development (2022) (2)
AMNIOTIC FLUID 170H-PROGESTERONE (17P) IS INCREASED ONLY IN SALT-LOSING FETAL 21-HYDROXYLASE DEFICIENCY (21 OHD) (1986) (2)
Congenital Defects Associated with Congenital Hypothyroidism (1989) (2)
Salivary testosterone measurement for monitoring treatment of children with congenital adrenal hyperplasia (CAH) (2005) (2)
The Adrenal Gland (1986) (2)
Congenital Hypothyroidism with Spuriously Increased FT3 Concentrations in Infant and Mother (1990) (2)
Neoplasia and Intersex States (2009) (2)
Paediatric and Adolescent Gynaecology: Androgen insensitivity syndromes (2004) (2)
Chapter 23 – Pediatric Disorders of Sex Development (2016) (2)
Anthropometry‐based prediction of body composition in early infancy compared to air‐displacement plethysmography (2021) (2)
Increased basal insulin sensitivity in late pregnancy in women carrying a male fetus: a cohort study (2022) (2)
CHAPTER 2 – The Pituitary (1986) (2)
Childhood Diabetes. The Facts (1983) (2)
Some aspects of androgen insensitivity. (1986) (2)
SCREENING AND DETERMINATION OF KINETIC PARAMETERS OF AROMATASE INHIBITORS USING HUMAN GENITAL SKIN FIBROBLASTS (1993) (1)
Subject Index, Vol. 38, 1992 (1992) (1)
Chapter 105 – Adrenarche and Adrenopause (2016) (1)
Surgical Practice in Girls with Congenital Adrenal Hyperplasia: An International Registry Study (2021) (1)
Diversity in developmental actions of androgens (2001) (1)
Regulation of Wolffian duct development in patients with complete androgen insensitivity syndrome (2003) (1)
Evaluation and Management of Disorders of Sex Development (2010) (1)
Physiology and developmental biology (2010) (1)
A Single-Center, Observational Study of 607 Children and Young People Presenting With Differences of Sex Development (DSD) (2022) (1)
Chapter 9. Ambiguous Genitalia (2007) (1)
Associations between breast milk intake volume, macronutrient intake, and infant growth in a longitudinal birth cohort: the Cambridge Baby Growth and Breastfeeding Study (CBGS-BF). (2022) (1)
Menarche and subsequent ovarian function in girls with congenital adrenal hyperplasia (CAH) (1981) (1)
Commentary to "Prospective assessment of cosmesis before and after genital surgery". (2017) (1)
Biological consequences of gain-of-function thyrotropin receptor (TSHR) mutant expression in adipose tissue (2004) (1)
Adrenal disordersCongenital adrenal hyperplasia (2013) (1)
The spectrum of associated congenital anomalies in disorders of sex development: a review of the I-DSD Registry (2013) (1)
Antenatal prediction of sex. (1979) (1)
10th National Meeting of the Italian Society of Pediatric Endocrinology and Diabetology (S.I.E.D.P.) (1995) (1)
Disorders of Sex Development. Preface. (2010) (1)
Ambiguous genitalia and intersex (2005) (1)
21-Hydroxylase Deficiency Defects and Their Phenotype (2000) (1)
CHAPTER 3 – The Thyroid (1986) (1)
Research data supporting "Early Pregnancy-Associated Plasma Protein A Concentrations are Associated with Third Trimester Insulin Sensitivity" (2017) (1)
Intersex (2002) (1)
Congenital hypothyroidism missed on screening. (1986) (1)
Are reflectance meters necessary for home blood glucose monitoring? (1980) (0)
Unusual Presentation of Simple Virilising Congenital Adrenal Hyperplasia as a Testicular Adrenal Rest Tumor (2014) (0)
Childhood and Molecular Aspects (2000) (0)
Anogenital Distance, Penis Growth, and Masculine Behaviour Evidence for Independent Neurobehavioral Effects of Foetal Versus Postnatal Androgen Exposure in Boys (2014) (0)
Commentary (1995) (0)
Long-term Endocrine Outcome in Men with Partial Androgen Insensitivity Syndrome (2015) (0)
Understanding differences and disorders of sex development. Preface. (2014) (0)
Exposure to Phthalates and Phenols in Relation to Gestational Blood Glucose Homeostasis (2015) (0)
Premature thelarche. (1982) (0)
infants . concentrations in ill preterm Blood spot glucocorticoid (0)
Urine steroid profiling for diagnosis of 5[alpha]-reductase type 2 deficiency (2012) (0)
Associations between Maternal Iron Supplementation in Pregnancy and Changes in Offspring Size at Birth Reflect Those of Multiple Micronutrient Supplementation. (2021) (0)
Studies of the androgen receptor (AR) in disorders of sexual differentiation (1986) (0)
Foreword (1997) (0)
Adrenal Diseases in Childhood (1984) (0)
Androgen receptors in development: biochemical and clinical correlates (2008) (0)
The role of salivary and blood-spot steroid determinations in paediatric endocrinology (1986) (0)
LETTERS TO THE EDITORS (1988) (0)
The clinical spectrum of DSD (2011) (0)
Contents, Vol. 38, 1992 (1982) (0)
Increased basal insulin sensitivity in late pregnancy in women carrying a male fetus: a cohort study (2022) (0)
5-alpha reductase deficiency: insights into the diagnosis and management of a rare condition (2016) (0)
Frequency of Gonadal Tumour in Complete Androgen Insensitivity Syndrome: a Retrospective Case-Series Analysis (2015) (0)
146 PERIPHERAL AROMATASE ACTIVITY IN ANDROGEN INSENSITIVITY SYNDROMES (1988) (0)
Seven novel mutations in the androgen receptor gene associated with complete androgen insensitivity syndrome (2002) (0)
Adiponectin levels are inversely related to length in early infancy (2012) (0)
disordersstatement on management of intersex (2006) (0)
Extensive Study of Breast Milk and Infant Growth: Protocol of the Cambridge Baby Growth and Breastfeeding Study (CBGS-BF). (2021) (0)
NR5A1 Mutation - A Rare Cause of Pubertal Androgenisation (2013) (0)
Growth hormone treatment of short children born small for gestational age: Metanalysis of four independent, randomized, controlled, multicentre studies - Panel discussion (1996) (0)
Dataset for the paper "Temporal Trends in Maternal Food Intake Frequencies and Associations with Gestational Diabetes: The Cambridge Baby Growth Study" [Dataset] (2019) (0)
Growth hormone and growth factors in endocrinology and metabolism : proceedings of the 19th international symposium held in Prague, Czech Republic, 21-22 April 1995 (1995) (0)
Use of aromatase inhibitor in a boy with short stature and advanced bone age (2008) (0)
Associations between maternal iron supplementation in pregnancy and offspring growth and cardiometabolic risk outcomes in infancy and childhood (2022) (0)
Steroid interrelationships in congenital adrenal hyperplasia (CAH) (1978) (0)
Downsyndrome inassociation withfeatures of theandrogen insensitivity syndrome (1996) (0)
Mutations oftheandrogen receptorgene identified inperineal hypospadias (1993) (0)
Best Practice & Research Clinical Endocrinology & Metabolism (2010) (0)
Long-term Healthcare of People with Disorders of Sex Development: Predictors of Pubertal Outcomes of Partial Androgen Insensitivity Syndrome – Authors' Reply (2018) (0)
COMMENTARY: Sex and an eye test (2018) (0)
Andrea Prader Prize for 1990 (1991) (0)
Isolated clitoromegaly Isolated labial fusion Late Early pubic hair Tall stature and advanced bone age Menstrual disturbance Male infertility Testicular ‘ tumours ’ (2008) (0)
Research data supporting "Associations Between Fetal Imprinted Genes and Maternal Blood Pressure in Pregnancy." (2017) (0)
Book Review Pediatric Endocrinology: Mechanisms, Manifestations, and Management Edited by Ora Hirsch Pescovitz and Erica A. Eugster. 839 pp., illustrated. Philadelphia, Lippincott Williams & Wilkins, 2004. $149.95. 0-7817-4059-2 (2005) (0)
Dataset for the paper "Temporal Trends without Seasonal Effects on Gestational Diabetes Incidence Relate to Reductions in Indices of Insulin Secretion: The Cambridge Baby Growth Study" [Dataset] (2019) (0)
Genes Presenting with 46 , XY Disordered Sex Development and Androgenization Concomitant Mutations in the P 450 Oxidoreductase and Androgen Receptor (2010) (0)
Genetic Control of Sex Differentiation (2002) (0)
POSTERIOR PITUITARY EXTRACT AND LUTEINISING HORMONE ANTIBODIES (1982) (0)
Increased Cross-Gender Identification Independent of Gender Role Behavior in Girls with Congenital Adrenal Hyperplasia: Results from a Standardized Assessment of 4- to 11-Year-Old Children (2014) (0)
Saliva steroid measurement in childhood (1978) (0)
Modelling and labelling behaviours Q 3 . rstb . royalsocietypublishing (2015) (0)
Neuroendocrine Disorders in Children Edited by Mehul Dattani, Peter Hindmarsh, Lucinda Carr, Iain CAF Robinson London: Mac Keith Press, 2016 £74.95 (Hardback), pp 406. ISBN: 978-1-909962-50-7 (2018) (0)
Erratum: Mutation analysis of subjects with 46, XX sex reversal and 46, XY gonadal dysgenesis does not support the involvement of SOX3 in testis determination (Human Genetics (2000) vol. 107 (650-652)) (2004) (0)
COMMENT Substitution Mutation C 268 Y Causes 17 b-Hydroxysteroid Dehydrogenase 3 Deficiency * (2001) (0)
Masculinizing and Feminizing Syndromes (1993) (0)
at Adrenarche Genes Presenting with 46,XY Disordered Sex Development and Androgenization Concomitant Mutations in the P450 Oxidoreductase and Androgen Receptor (2010) (0)
Novel KAL1 mutations associated with septo-optic dysplasia in three female patients (2011) (0)
Next generation sequencing and functional characterization of the androgen receptor (AR) gene in patients with androgen insensitivity syndrome (AIS) and controls (2015) (0)
Data related to "Vomiting in Pregnancy is Associated with a Higher Risk of Low Birth Weight: A cohort study" (2018) (0)
Calcium, Parathyroid, Vitamin D (1986) (0)
Congenital Hypothyroidism (1984) (0)
Management of hirsutism. (1981) (0)
118 CONGENITAL ADRENAL HYPERPLASIA (CAH) MONITORED BY SERIAL 170H-PROGESTERONE (17P) DETERMINED IN 3 MATRICES (1985) (0)
Workshops: an introduction (2006) (0)
The role of a next generation sequencing panel in the diagnostic pathway in disorders of sex development (2015) (0)
Functional analysis of the N/C interactions in the AR (2003) (0)
Prenatal Exposure to Phthalates and Phenols in Relation to Anogenital Distance at Birth in Male Infants (2014) (0)
Mini-symposiumAdrenal disorders (1992) (0)
Normal Puberty: Somatic Characteristics (2019) (0)
females and XY intersex subjects . Mutation analysis of the 2 kb 5 ' to SRY in XY (0)
Androgen Insensitivity: Partial AIS (2019) (0)
Folic acid supplementation during pregnancy and associations with offspring size at birth and adiposity: a cohort study (2021) (0)
Assessment of antiandrogenic activity in a range of environmental contaminants (2003) (0)
PREFACE TO REVISED REPRINT (1986) (0)
The Molecular Biology of Endocrine Disease (1986) (0)
Pubertal and Gonadal Outcomes in 46,XY Individuals with Partial Androgen Insensitivity Syndrome Raised as Girls. (2021) (0)
Subject Index Vol. 68, Suppl. 5, 2007 (2007) (0)
46, XY DSD: A case of clinical and biochemical conflict (2009) (0)
The blurring of the margins of endocrinology and its relevance to the paediatric endocrinologist (2006) (0)
Circadian patterns of plasma steroids in congenital adrenal hyperplasia. (1981) (0)
Data related to "The Association between Age at Menarche and Later Risk of Gestational Diabetes is mediated by Insulin Resistance" (2018) (0)
Subject Index Vol. 43, 1995 (1995) (0)
The influence of maternal pregnancy glucose concentrations on associations between a fetal imprinted gene allele score and offspring size at birth (2018) (0)
RESPONSE TO TREATMENT IN CONGENITAL ADRENAL HYPERPLASIA (CAH) DURING EARLY INFANCY (1988) (0)
Antenatal prediction of sex. (1979) (0)
Research data supporting "Associations between a Fetal Imprinted Gene Allele Score and Late Pregnancy Maternal Glucose Concentrations" (2017) (0)
Puberty reveals a familial disorder of sex development (2012) (0)
Subject Index, Vol. 36, 1991 (1991) (0)
The High-Risk Type 1 Diabetes HLA-DR and HLA-DQ Polymorphisms Are Differentially Associated With Growth and IGF-I Levels in Infancy: The Cambridge Baby Growth Study (2021) (0)
Genetic heterogeneity in Laron syndrome. Discussion (1993) (0)
Subject Index Vol. 67, Suppl. 1, 2007 (2007) (0)
Predictors of Posttraumatic Stress in Parents of Children Diagnosed with a Disorder of Sex Development (2013) (0)
The translation of lipid profiles to nutritional biomarkers in the study of infant metabolism (2017) (0)
Androgens and child behavior: Color and toy preferences in children with congenital adrenal hyperplasia (CAH) (2023) (0)
General Principles of Endocrine Tests (1986) (0)
ANDROGEN INSENSITIVITY (AI) IN 43 PATIENTS: CLASSIFICATION BASED ON CLINICAL AND ANDROGEN RECEPTORS (AR) PHENOTYPES (1986) (0)
Contents Vol. 8, 2014 (2015) (0)
Lucky and Privileged to Be a Member (2011) (0)
Andrea Prader Prize for 1990. (1991) (0)
CLINICAL, BIOCHEMICAL AND GENETIC STUDIES IN ANDROGEN INSENSITIVITY SYNDROME: A TWO YEAR STUDY (1993) (0)
Closing remarks (1993) (0)
Book Review Ethics and Intersex (International Library of Ethics, Law, and the New Medicine. Vol. 29.) Edited by Sharon E. Sytsma. 336 pp. Dordrecht, the Netherlands, Springer, 2006. $149. 978-1-4020-4313-0 (2007) (0)
Characteristics of 46,XY complete and partial gonadal dysgenesis- A pilot study (2021) (0)
Results Associations With Maternal Mean Arterial Blood Pressures in the Cambridge Baby Growth and Wellbeing Studies (2016) (0)
Recent Secular Change in Pre- and Postnatal Growth and Adiposity in Infants of Mothers with Gestational Diabetes (2018) (0)
Data for the manuscript entitled "Associations between Bacterial Infections and Blood Pressure in Pregnancy" (2017) (0)
The Endocrine Pancreas (1986) (0)
The use of apolipoprotein D as a biomarker for androgen sensitivity identifies a new type of androgen insensitivity syndrome that is not associated with a mutation in the androgen receptor gene (2016) (0)

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