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- Publications
- Influence
Consensus Statement on Management of Intersex Disorders
The birth of an intersex child prompts a long-term management strategy that involves a myriad of professionals working with the family. There has been progress in diagnosis, surgical techniques,… Expand
Small for gestational age: short stature and beyond.
- P. Saenger, P. Czernichow, I. Hughes, E. Reiter
- Medicine
- Endocrine reviews
- 1 April 2007
Depending on the definitions used, up to 10% of all live-born neonates are small for gestational age (SGA). Although the vast majority of these children show catch-up growth by 2 yr of age, one in 10… Expand
Androgen insensitivity syndrome
- I. Hughes, J. D. Davies, T. Bunch, V. Pasterski, K. Mastroyannopoulou, J. Macdougall
- Biology, Medicine
- The Lancet
- 20 October 2012
Androgen insensitivity syndrome in its complete form is a disorder of hormone resistance characterised by a female phenotype in an individual with an XY karyotype and testes producing age-appropriate… Expand
The role of a clinical score in the assessment of ambiguous genitalia
Objective To improve the initial assessment of ambiguous genitalia in infants.
Disorders of sex development: a new definition and classification.
- I. Hughes
- Biology, Medicine
- Best practice & research. Clinical endocrinology…
- 1 February 2008
A newborn infant with ambiguous genitalia is a complex enough problem to unravel without any further clouding by confusing terms. The nomenclature 'intersex', 'hermaphrodite' and… Expand
Anogenital Distance from Birth to 2 Years: a Population Study
- A. Thankamony, K. Ong, D. Dunger, C. Acerini, I. Hughes
- Biology, Medicine
- Environmental health perspectives
- 13 July 2009
Background Anogenital distance (AGD) is sexually dimorphic in rodents and humans, being 2- to 2.5-fold greater in males. It is a reliable marker of androgen and antiandrogen effects in rodent… Expand
Calcium-sensing receptor mutations in familial benign hypercalcemia and neonatal hyperparathyroidism.
- S. Pearce, D. Trump, +7 authors M. Whyte
- Medicine
- The Journal of clinical investigation
- 1 December 1995
Familial benign hypercalcemia (FBH) and neonatal hyperparathyroidism (NHPT) are disorders of calcium homeostasis that are associated with missense mutations of the calcium-sensing receptor (CaR). We… Expand
Phenotypic features, androgen receptor binding, and mutational analysis in 278 clinical cases reported as androgen insensitivity syndrome.
- S. Ahmed, A. Cheng, +6 authors I. Hughes
- Biology, Medicine
- The Journal of clinical endocrinology and…
- 1 February 2000
Androgen insensitivity syndrome (AIS) is the most common single entity that results in male under-masculinization, but large cohort studies of AIS have rarely been performed. Over the last decade,… Expand
Psychological Outcomes and Gender-Related Development in Complete Androgen Insensitivity Syndrome
- M. Hines, S. F. Ahmed, I. Hughes
- Psychology, Medicine
- Archives of sexual behavior
- 1 April 2003
We evaluated psychological outcomes and gender development in 22 women with complete androgen insensitivity syndrome (CAIS). Participants were recruited through a medical database (n = 10) or through… Expand
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