Ieuan A Hughes

Summary

Affiliation: University of Cambridge
Country: UK

Publications

  1. doi request reprint Disorders of sex development: a new definition and classification
    Ieuan 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
  2. doi request reprint Biological assessment of abnormal genitalia
    I A Hughes
    Human Developmental Genetics, Institut Pasteur, Paris, France
    J Pediatr Urol 8:592-6. 2012
  3. doi request reprint Androgen insensitivity syndrome
    Ieuan Arwel Hughes
    Department of Paediatrics, University of Cambridge, Addenbrooke s Hospital, Cambridge, United Kingdom
    Semin Reprod Med 30:432-42. 2012
  4. doi request reprint Androgen insensitivity syndrome
    Ieuan A Hughes
    Department of Paediatrics, University of Cambridge, Cambridge, UK
    Lancet 380:1419-28. 2012
  5. pmc A perspective on perspectives
    I A Hughes
    Department of Paediatrics, Addenbrooke s Hospital, Box 116, Level 8, Cambridge CB2 2QQ, UK
    Arch Dis Child 90:771. 2005
  6. ncbi request reprint Genetic mechanisms of fetal male undermasculinization: a background to the role of endocrine disruptors
    Ieuan 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
  7. ncbi request reprint Early management and gender assignment in disorders of sexual differentiation
    I A Hughes
    Department of Paediatrics, Addenbrooke s Hospital, University of Cambridge, Cambridge, UK
    Endocr Dev 11:47-57. 2007
  8. pmc Consensus statement on management of intersex disorders
    I 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
  9. ncbi request reprint A wider perspective on puberty
    Ieuan A Hughes
    Department of Paediatrics, University of Cambridge, Cambridge CB2 2QQ, UK
    Mol Cell Endocrinol 254:1-7. 2006
  10. doi request reprint The quiet revolution: Disorders of sex development
    Ieuan 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

Collaborators

Detail Information

Publications55

  1. doi request reprint Disorders of sex development: a new definition and classification
    Ieuan 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...
  2. doi request reprint Biological assessment of abnormal genitalia
    I A Hughes
    Human Developmental Genetics, Institut Pasteur, Paris, France
    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...
  3. doi request reprint Androgen insensitivity syndrome
    Ieuan 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...
  4. doi request reprint Androgen insensitivity syndrome
    Ieuan A Hughes
    Department of Paediatrics, University of Cambridge, Cambridge, UK
    Lancet 380:1419-28. 2012
    ....
  5. pmc A perspective on perspectives
    I A Hughes
    Department of Paediatrics, Addenbrooke s Hospital, Box 116, Level 8, Cambridge CB2 2QQ, UK
    Arch Dis Child 90:771. 2005
  6. ncbi request reprint Genetic mechanisms of fetal male undermasculinization: a background to the role of endocrine disruptors
    Ieuan 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
    ....
  7. ncbi request reprint Early management and gender assignment in disorders of sexual differentiation
    I 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...
  8. pmc Consensus statement on management of intersex disorders
    I 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
  9. ncbi request reprint A wider perspective on puberty
    Ieuan 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...
  10. doi request reprint The quiet revolution: Disorders of sex development
    Ieuan 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...
  11. pmc Confusing terminology attempts to define the undefinable
    I Hughes
    Department of Paediatrics, University of Cambridge, Cambridge CB2 2QQ, UK
    Arch Dis Child 92:97-8. 2007
  12. ncbi request reprint Consequences of the ESPE/LWPES guidelines for diagnosis and treatment of disorders of sex development
    Ieuan 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...
  13. doi request reprint Factors controlling testis descent
    Ieuan 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...
  14. doi request reprint Opportunistic growth measurements are not frequently done in hospital
    N 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...
  15. ncbi request reprint A perspective on stem cells by a clinician
    Ieuan 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...
  16. pmc 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...
  17. ncbi request reprint Intersex
    I A Hughes
    Department of Paediatrics, University of Cambridge, Addenbrooke s Hospital, Cambridge, UK
    BJU Int 90:769-76. 2002
  18. ncbi request reprint Congenital adrenal hyperplasia: phenotype and genotype
    Ieuan Hughes
    Department of Paediatrics, University of Cambridge, Addenbrooke s Hospital, UK
    J Pediatr Endocrinol Metab 15:1329-40. 2002
    ....
  19. ncbi request reprint Management of fetal endocrine disorders
    I 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...
  20. ncbi request reprint Congenital adrenal hyperplasia: transitional care
    Ieuan 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
    ....
  21. ncbi request reprint Minireview: sex differentiation
    I 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...
  22. ncbi request reprint Developmental aspects of androgen action
    I 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...
  23. ncbi request reprint Testicular adrenal rest tumours
    Ieuan Hughes
    Department of Paediatrics, University of Cambridge and Addenbrooke s Hospital, Cambridge, UK
    J Pediatr Endocrinol Metab 17:589-90. 2004
  24. doi request reprint The role of androgens in fetal growth: observational study in two genetic models of disordered androgen signalling
    Harriet 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...
  25. ncbi request reprint Changes in gene expression during Wolffian duct development
    Sabine 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...
  26. pmc Associations between paternally transmitted fetal IGF2 variants and maternal circulating glucose concentrations in pregnancy
    Clive 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...
  27. pmc Anogenital distance from birth to 2 years: a population study
    Ajay 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...
  28. ncbi request reprint Androgen resistance
    Ieuan 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...
  29. doi request reprint Comparison of the molecular consequences of different mutations at residue 754 and 690 of the androgen receptor (AR) and androgen insensitivity syndrome (AIS) phenotype
    Rieko 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...
  30. pmc Breastfeeding and infant temperament at age three months
    Blandine 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...
  31. ncbi request reprint Regulation of Wolffian duct development
    Sabine E Hannema
    Department of Paediatrics, Addenbrooke s Hospital, University of Cambridge, Cambridge, UK
    Horm Res 67:142-51. 2007
    ....
  32. doi request reprint Maternally transmitted foetal H19 variants and associations with birth weight
    Clive 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...
  33. ncbi request reprint Five novel androgen receptor gene mutations associated with complete androgen insensitivity syndrome
    Jarmo 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...
  34. pmc Pregnancy insulin, glucose, and BMI contribute to birth outcomes in nondiabetic mothers
    Ken 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...
  35. ncbi request reprint Residual activity of mutant androgen receptors explains wolffian duct development in the complete androgen insensitivity syndrome
    Sabine 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...
  36. doi request reprint Anogenital distance and penile length in infants with hypospadias or cryptorchidism: comparison with normative data
    Ajay Thankamony
    Department of Paediatrics, University of Cambridge, Addenbrooke s Hospital, Cambridge, United Kingdom
    Environ Health Perspect 122:207-11. 2014
    ..2014. Anogenital distance and penile length in infants with hypospadias or cryptorchidism: comparison with normative data. Environ Health Perspect 122:207-211; http://dx.doi.org/10.1289/ehp.1307178. ..
  37. pmc Ultrasound estimates of visceral and subcutaneous-abdominal adipose tissues in infancy
    Emanuella De Lucia Rolfe
    MRC Epidemiology Unit, Institute of Metabolic Science, Addenbrooke s Hospital, P O Box 285, Cambridge CB2 0QQ, UK
    J Obes 2013:951954. 2013
    ..004). US measures can rank infants with higher or lower IA-AT and SCA-AT. Contrasting patterns of association with visceral and subcutaneous-abdominal adiposities indicate that they may be differentially regulated in infancy...
  38. ncbi request reprint 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
  39. doi request reprint Congenital adrenal hyperplasia: a lifelong disorder
    Ieuan A Hughes
    Department of Paediatrics, Addenbrooke s Hospital, University of Cambridge, Cambridge, UK
    Horm Res 68:84-9. 2007
    ....
  40. ncbi request reprint Evidence that luteinising hormone receptor polymorphisms may contribute to male undermasculinisation
    Nigel 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)...
  41. doi request reprint Is surgical exploration necessary in bilateral anorchia?
    Alex Q A Teo
    University of Cambridge School of Clinical Medicine, Addenbrooke s Hospital, Box 111, Cambridge CB2 0SP, UK
    J Pediatr Urol 9:e78-81. 2013
    ..To review the current management of boys with bilateral anorchia and assess whether surgical exploration is necessary when endocrine investigation indicates absent testicular function...
  42. ncbi request reprint Two de novo mutations in the AR gene cause the complete androgen insensitivity syndrome in a pair of monozygotic twins
    Nigel 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...
  43. doi request reprint Premature adrenarche
    Rachel M Williams
    Department of Paediatrics, University of Cambridge, Cambridge, UK
    Arch Dis Child 97:250-4. 2012
    ....
  44. doi request reprint Insulin-like growth factor I concentrations in infancy predict differential gains in body length and adiposity: the Cambridge Baby Growth Study
    Ken 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)...
  45. doi request reprint Predictors of posttraumatic stress in parents of children diagnosed with a disorder of sex development
    Vickie Pasterski
    Department of Paediatrics, Addenbrooke s Hospital, Box 116, Level 8, Hills Road, Cambridge, CB2 0QQ, UK
    Arch Sex Behav 43:369-75. 2014
    ..Our findings suggest that we may directly apply models successful in other areas of pediatrics, such as pediatric oncology. Future studies may assess the usefulness of such an intervention. ..
  46. ncbi request reprint 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...
  47. ncbi request reprint Androgen receptor gene CAG repeat polymorphism in the development of ovarian hyperandrogenism
    Lourdes 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...
  48. ncbi request reprint Phenotypic variability in 17beta-hydroxysteroid dehydrogenase-3 deficiency and diagnostic pitfalls
    Yung 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...
  49. ncbi request reprint Consensus statement on management of intersex disorders. International Consensus Conference on Intersex
    Peter 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
  50. ncbi request reprint Summary of consensus statement on intersex disorders and their management. International Intersex Consensus Conference
    Christopher P Houk
    Department of Pediatrics, Backus Children s Hospital, Mercer University School of Medicine, Savannah, Georgia, USA
    Pediatrics 118:753-7. 2006
  51. ncbi request reprint The genetics of male undermasculinization
    S 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...
  52. ncbi request reprint Steroid receptor coactivator-3 glutamine repeat polymorphism and the androgen insensitivity syndrome
    Nigel P Mongan
    Eur J Endocrinol 148:277-9. 2003
  53. ncbi request reprint Genital anomalies in Klinefelter's syndrome
    Yung 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...
  54. pmc Heterozygous missense mutations in steroidogenic factor 1 (SF1/Ad4BP, NR5A1) are associated with 46,XY disorders of sex development with normal adrenal function
    Lin 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...
  55. ncbi request reprint Psychological outcomes and gender-related development in complete androgen insensitivity syndrome
    Melissa 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...