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Species | Ieuan A HughesSummaryAffiliation: University of Cambridge Country: UK Publications
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Publications
Disorders of sex development: a new definition and classificationIeuan A Hughes
University of Cambridge, Department of Paediatrics, Box 116, Level 8, Addenbrooke s Hospital, Hills Road, Cambridge CB2 OQQ, UK
Best Pract Res Clin Endocrinol Metab 22:119-34. 2008..Future research to determine many causes of DSD will benefit from the use of this universal language of scientific communication...- Biological assessment of abnormal genitaliaI A Hughes
Human Developmental Genetics, Institut Pasteur, Paris, France Electronic address
J Pediatr Urol 8:592-6. 2012..For investigation of the newborn with abnormal genitalia, a pragmatic approach can be taken to guide the clinician using appropriate algorithms... - Androgen insensitivity syndromeIeuan Arwel Hughes
Department of Paediatrics, University of Cambridge, Addenbrooke s Hospital, Cambridge, United Kingdom
Semin Reprod Med 30:432-42. 2012..It is implicit that management in AIS requires a multidisciplinary team and engagement with patient advocacy groups... - Androgen insensitivity syndromeIeuan A Hughes
Department of Paediatrics, University of Cambridge, Cambridge, UK
Lancet 380:1419-28. 2012.... 
A perspective on perspectivesI A Hughes
Department of Paediatrics, Addenbrooke's Hospital, Box 116, Level 8, Cambridge CB2 2QQ, UK
Arch Dis Child 90:771. 2005
Genetic mechanisms of fetal male undermasculinization: a background to the role of endocrine disruptorsIeuan A Hughes
Department of Paediatrics, University of Cambridge, Addenbrooke s Hospital, Box 116, Level 8, Hills Road, Cambridge CB2 2QQ, UK
Environ Res 100:44-9. 2006....- Consensus statement on management of intersex disordersI A Hughes
Department of Paediatrics, University of Cambridge, Addenbrooke's Hospital, Box 116, Level 8, Hills Road, Cambridge CB2 2QQ, UK
Arch Dis Child 91:554-63. 2006 - A wider perspective on pubertyIeuan A Hughes
Department of Paediatrics, University of Cambridge, Cambridge CB2 2QQ, UK
Mol Cell Endocrinol 254:1-7. 2006..The influences on the sensor include marked changes in nutrition and an environmental exposure to low-dose chemical mixtures interacting with a polygenic background... - Opportunistic growth measurements are not frequently done in hospitalN Lek
Department of Paediatrics, University of Cambridge, Level 8 Box 116, Addenbrooke s Hospital, Cambridge CB2 0QQ, UK
Arch Dis Child 94:702-4. 2009..There is a need for an educational programme for health professionals to emphasise the value of growth as an index of health in children, and for the current strategy for growth monitoring in the UK to be re-evaluated... - Confusing terminology attempts to define the undefinableI Hughes
Department of Paediatrics, University of Cambridge, Cambridge CB2 2QQ, UK
Arch Dis Child 92:97-8. 2007 - Consequences of the ESPE/LWPES guidelines for diagnosis and treatment of disorders of sex developmentIeuan A Hughes
Department of Paediatrics, University of Cambridge, Addenbrooke s Hospital, Box 116, Cambridge CB2 OQQ, UK
Best Pract Res Clin Endocrinol Metab 21:351-65. 2007..This resulted in the publication of a Consensus Statement encompassing many aspects of management, extending from birth to adulthood... - Early management and gender assignment in disorders of sexual differentiationI A Hughes
Department of Paediatrics, Addenbrooke s Hospital, University of Cambridge, Cambridge, UK
Endocr Dev 11:47-57. 2007..For the purposes of this chapter, attention is focussed on the newborn with ambiguous genitalia and subsequent management in infancy and early childhood... - Factors controlling testis descentIeuan A Hughes
Department of Paediatrics, Addenbrooke s Hospital, University of Cambridge, Box 116, Hills Road, Cambridge CB20QQ, UK
Eur J Endocrinol 159:S75-82. 2008..Appropriate screening programmes and early surgical intervention are the prerequisites to ensure optimal fertility in adulthood and a considerably lessened risk of testis cancer... - The quiet revolution: Disorders of sex developmentIeuan A Hughes
Department of Paediatrics, University of Cambridge, Addenbrooke s Hospital, Box 116, Cambridge CB2 OQQ, UK
Best Pract Res Clin Endocrinol Metab 24:159-62. 2010..In a remarkably short length of time, these revolutionary changes are becoming accepted practice across a range of medical and scientific disciplines... - A perspective on stem cells by a clinicianIeuan A Hughes
Department of Paediatrics, University of Cambridge, Box 116, Level 8, Addenbrooke s Hospital, Hills Road, Cambridge CB2 2QQ, UK
Eur J Endocrinol 151:U3-5. 2004..It is logical therefore to have included a number of articles on stem cells in this special issue of this journal, publishing papers on a range of endocrine-related topics... - IntersexI A Hughes
Department of Paediatrics, University of Cambridge, Addenbrooke's Hospital, Cambridge, UK
BJU Int 90:769-76. 2002 - Reduced birth weight in boys with hypospadias: an index of androgen dysfunction?I A Hughes
Department of Paediatrics, University of Cambridge, Addenbrooke s Hospital, Box 116, Cambridge CB2 2QQ, UK
Arch Dis Child Fetal Neonatal Ed 87:F150-1. 2002..The absence of the usual sex dimorphism for these variables suggests that the results represent a marker of fetal androgen dysfunction in this subgroup of infants... - Congenital adrenal hyperplasia: phenotype and genotypeIeuan Hughes
Department of Paediatrics, University of Cambridge, Addenbrooke s Hospital, UK
J Pediatr Endocrinol Metab 15:1329-40. 2002.... - Management of fetal endocrine disordersI A Hughes
Department of Paediatrics, University of Cambridge, Addenbrooke s Hospital, Box 116, Cambridge, CB2 2QQ, UK
Growth Horm IGF Res 13:S55-61. 2003..However, there are more practical options for managing this condition, including improved maternal nutrition and avoidance of toxins injurious to fetal growth... - Congenital adrenal hyperplasia: transitional careIeuan A Hughes
Department of Paediatrics, University of Cambridge, Addenbrooke s Hospital, P O Box 116, Hills Road, Cambridge CB2 2QQ, UK
Growth Horm IGF Res 14:S60-6. 2004.... - Developmental aspects of androgen actionI A Hughes
Department of Paediatrics, University of Cambridge, Addenbrooke s Hospital, Box 116, Cambridge CB2 2QQ, UK
Mol Cell Endocrinol 185:33-41. 2001..That androgen action can be modulated by gene polymorphisms is illustrated by the influence of an androgen receptor polyglutamine repeat in the multi-factorial causation of less severe forms of male under-masculinization... - Testicular adrenal rest tumoursIeuan Hughes
Department of Paediatrics, University of Cambridge and Addenbrooke's Hospital, Cambridge, UK
J Pediatr Endocrinol Metab 17:589-90. 2004 - Minireview: sex differentiationI A Hughes
Department of Paediatrics, University of Cambridge, Addenbrooke s Hospital, Cambridge CB2 2QQ, United Kingdom
Endocrinology 142:3281-7. 2001..Polymorphic variants in genes controlling androgen synthesis and action may modulate androgenic effects on sex differentiation... - Associations between paternally transmitted fetal IGF2 variants and maternal circulating glucose concentrations in pregnancyClive J Petry
Department of Paediatrics, University of Cambridge, Cambridge, UK
Diabetes 60:3090-6. 2011..To test the hypothesis that polymorphic variation in the paternally transmitted fetal IGF2 gene is associated with maternal glucose concentrations in the third trimester of pregnancy... - Changes in gene expression during Wolffian duct developmentSabine E Hannema
Department of Paediatrics, Addenbrooke s Hospital, University of Cambridge, Cambridge, UK
Horm Res 65:200-9. 2006..The molecular pathways underlying androgen-dependent WD development are largely unknown. We aimed to identify AR target genes important in this process... - The role of androgens in fetal growth: observational study in two genetic models of disordered androgen signallingHarriet L Miles
Department of Paediatrics, University of Cambridge, Addenbrooke s Hospital, Cambridge, UK
Arch Dis Child Fetal Neonatal Ed 95:F435-8. 2010..To examine the role of androgens on birth weight in genetic models of altered androgen signalling... - Androgen resistanceIeuan A Hughes
Department of Paediatrics, University of Cambridge, Box 116, Level 8, Addenbrooke s Hospital, Hills Road, Cambridge CB2 2QQ, UK
Best Pract Res Clin Endocrinol Metab 20:577-98. 2006..Management issues in syndromes of androgen insensitivity include decisions on sex assignment, timing of gonadectomy in relation to tumour risk, and genetic and psychological counselling... - Anogenital distance from birth to 2 years: a population studyAjay Thankamony
Department of Paediatrics, University of Cambridge, Cambridge, United Kingdom
Environ Health Perspect 117:1786-90. 2009..5-fold greater in males. It is a reliable marker of androgen and antiandrogen effects in rodent reproductive toxicologic studies. Data on AGD in humans are sparse, with no longitudinal data collected during infancy... - Comparison of the molecular consequences of different mutations at residue 754 and 690 of the androgen receptor (AR) and androgen insensitivity syndrome (AIS) phenotypeRieko Tadokoro
Department of Paediatrics, University of Cambridge, Addenbrooke s Hospital, Cambridge, UK
Clin Endocrinol (Oxf) 71:253-60. 2009..We investigated if phenotype could be predicted by comparing the functionality of AR mutations with those at the same codon of known phenotype... - Breastfeeding and infant temperament at age three monthsBlandine de Lauzon-Guillain
Medical Research Council Epidemiology Unit, Cambridge, United Kingdom
PLoS ONE 7:e29326. 2012..Infant temperament scores were related to mode of infant milk feeding at age 3 months (breast only; formula milk only; or mixed) with adjustment for infant's age at assessment and an index of deprivation... - Maternally transmitted foetal H19 variants and associations with birth weightClive J Petry
Department of Paediatrics, University of Cambridge, Box 116, Addenbrooke s Hospital, Hills Road, Cambridge CB2 0QQ, UK
Hum Genet 130:663-70. 2011..Polymorphic variation in H19 is not associated with significant changes in maternal glucose tolerance in the third trimester of pregnancy... - Regulation of Wolffian duct developmentSabine E Hannema
Department of Paediatrics, Addenbrooke s Hospital, University of Cambridge, Cambridge, UK
Horm Res 67:142-51. 2007.... - Five novel androgen receptor gene mutations associated with complete androgen insensitivity syndromeJarmo Jääskeläinen
Department of Paediatrics, Addenbrooke s Hospital, University of Cambridge, Cambridge, United Kingdom
Hum Mutat 27:291. 2006..The mutation p.Leu812Pro is located in the C-terminal end of helix 8. This domain is highly conserved and critical for ligand binding. This study extends current understanding of AR mutations associated with CAIS... - Pregnancy insulin, glucose, and BMI contribute to birth outcomes in nondiabetic mothersKen K Ong
MRC Epidemiology Unit, Institute of Metabolic Science, Cambridge, UK
Diabetes Care 31:2193-7. 2008..We investigated the effects of normal variations in maternal glycemia on birth size and other birth outcomes... - Residual activity of mutant androgen receptors explains wolffian duct development in the complete androgen insensitivity syndromeSabine E Hannema
Department of Pediatrics, University of Cambridge, Addenbrooke's Hospital, Hills Road, Cambridge, United Kingdom CB2 2QQ
J Clin Endocrinol Metab 89:5815-22. 2004..The classification of androgen insensitivity in such patients should be considered severe rather than complete... - Evidence that luteinising hormone receptor polymorphisms may contribute to male undermasculinisationNigel P Mongan
Department of Paediatrics, University of Cambridge, Box 116, Level 8, Addenbrooke s Hospital, Cambridge CB2 2QQ, UK
Eur J Endocrinol 147:103-7. 2002..It contains three protein polymorphisms: a leucine and glutamine insertion between codons 8 and 9 (LQ+) and two amino acid substitutions (N291S, N312S)... - Congenital adrenal hyperplasia: a lifelong disorderIeuan A Hughes
Department of Paediatrics, Addenbrooke s Hospital, University of Cambridge, Cambridge, UK
Horm Res 68:84-9. 2007..There are also areas where responsibilities overlap and require several professionals providing coordinated care... - Female development--all by default?Ieuan A Hughes
Department of Paediatrics, University of Cambridge, Cambridge, United Kingdom
N Engl J Med 351:748-50. 2004 - Premature adrenarcheRachel M Williams
Department of Paediatrics, University of Cambridge, Cambridge, UK
Arch Dis Child 97:250-4. 2012.... - Insulin-like growth factor I concentrations in infancy predict differential gains in body length and adiposity: the Cambridge Baby Growth StudyKen K Ong
Medical Research Council Epidemiology Unit, Institute of Metabolic Science, Addenbrooke s Hospital, Cambridge, UK
Am J Clin Nutr 90:156-61. 2009..Formula milk-fed infants show faster rates of growth and weight gain than do breastfed infants, and they have higher concentrations of insulin-like growth factor I (IGF-I)... - Inguinal hernia in female infants: a cue to check the sex chromosomes?Asma Deeb
University Department of Paediatrics, Cambridge University, Cambridge, UK
BJU Int 96:401-3. 2005..To review the clinical presentation of complete androgen insensitivity syndrome (CAIS) and assess the current practice of considering the diagnosis of CAIS in female infants presenting with inguinal hernia... - Two de novo mutations in the AR gene cause the complete androgen insensitivity syndrome in a pair of monozygotic twinsNigel P Mongan
University Department of Pediatrics, Addenbrooke s Hospital, University of Cambridge, Cambridge, United Kingdom CB2 2QQ
J Clin Endocrinol Metab 87:1057-61. 2002..To our knowledge this is the first confirmed instance of AIS (complete or partial) due to an AR mutation occurring in twins. Furthermore, the phenotype was associated with two mutations that were both novel in nature... - Summary of consensus statement on intersex disorders and their management. International Intersex Consensus ConferenceChristopher P Houk
Department of Pediatrics, Backus Children's Hospital, Mercer University School of Medicine, Savannah, Georgia, USA
Pediatrics 118:753-7. 2006 - Consensus statement on management of intersex disorders. International Consensus Conference on IntersexPeter A Lee
Department of Pediatrics, MC-085, Penn State College of Medicine, Milton S. Hershey Medical Center, Box 850, 500 University Dr, Hershey, Pennsylvania 17033-0850, USA
Pediatrics 118:e488-500. 2006 - The genetics of male undermasculinizationS Faisal Ahmed
Department of Child Health, University of Glasgow, Royal Hospital for Sick Children, Yorkhill, Glasgow, UK
Clin Endocrinol (Oxf) 56:1-18. 2002..The investigation of disorders associated with male undermasculinization of prenatal onset is described briefly to complete the review... - Phenotypic variability in 17beta-hydroxysteroid dehydrogenase-3 deficiency and diagnostic pitfallsYung Seng Lee
Department of Paediatrics, National University of Singapore, Singapore
Clin Endocrinol (Oxf) 67:20-8. 2007..We report the phenotypes of 14 subjects with 17betaHSD3 deficiency in relation to sex of rearing, androgen production, and HSD17B3 mutations... - Androgen receptor gene CAG repeat polymorphism in the development of ovarian hyperandrogenismLourdes Ibanez
Endocrine Unit L I, Hospital Sant Joan de Deu, University of Barcelona, E 08950 Barcelona, Spain
J Clin Endocrinol Metab 88:3333-8. 2003..Shorter CAG repeat alleles in Barcelona compared with United Kingdom women could lead to higher prevalences of these conditions... - Psychological outcomes and gender-related development in complete androgen insensitivity syndromeMelissa Hines
Department of Psychology, City University, London, England, United Kingdom
Arch Sex Behav 32:93-101. 2003..They also suggest that psychological outcomes in women with CAIS are similar to those in other women. However, additional attention to more detailed aspects of psychological well-being in CAIS is needed... - Heterozygous missense mutations in steroidogenic factor 1 (SF1/Ad4BP, NR5A1) are associated with 46,XY disorders of sex development with normal adrenal functionLin Lin
Developmental Endocrinology Research Group, Clinical and Molecular Genetics Unit, UCL Institute of Child Health, University College London, 30 Guilford Street, London WC1N 1EH, United Kingdom
J Clin Endocrinol Metab 92:991-9. 2007..Consistent with the murine phenotype, human mutations in SF1 were described initially in two 46,XY individuals with female external genitalia, Müllerian structures (uterus), and primary adrenal failure... - Steroid receptor coactivator-3 glutamine repeat polymorphism and the androgen insensitivity syndromeNigel P Mongan
Eur J Endocrinol 148:277-9. 2003 - Genital anomalies in Klinefelter's syndromeYung Seng Lee
Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore
Horm Res 68:150-5. 2007..Klinefelter patients classically have complete male sex differentiation, and genital anomalies are generally not recognized as associated features of the syndrome...