S F Ahmed1, A Cheng, I A Hughes. 1. Department of Paediatrics, University of Cambridge Clinical School, Box 116, Addenbrookes Hospital, Hills Road, Cambridge CB2 2QQ, UK. sfa21@cam.ac.uk
Abstract
OBJECTIVE: To study the value of measuring serum luteinising hormone (LH), follicle stimulating hormone (FSH), testosterone, and dihydrotestosterone (DHT) in androgen insensitivity syndrome (AIS). DESIGN: Retrospective study of patients on a nationwide register of AIS. PATIENTS: Sixty one cases of AIS with androgen receptor (AR) dysfunction (abnormalities of the AR gene and/or abnormal AR binding) were divided into three age groups: infants, < 1 year old; children, 1-13 years old; and postpubertal, > 13 years old. MEASUREMENTS: Age, dose of human chorionic gonadotrophin (hCG) stimulation, pre-hCG and post-hCG serum testosterone values, serum DHT values, and serum LH and FSH values before and after LH releasing hormone (LHRH) stimulation. RESULTS: In 23 of 30 infants testosterone was within age related reference ranges; six were above this range. The median testosterone rise following variable dosage of hCG was 9.5 times the basal value. The increment was not related to the hCG dose, age, or basal concentration of testosterone. The median basal and stimulated testosterone:DHT ratios were 2.5 and 6.1, respectively. The median increment in DHT was 2.2-fold. Seventeen of 18 FSH and 11 of 19 LH measurements were within age related ranges in infants; in seven patients LH values were above the range. LHRH stimulation performed in 39 patients showed an exaggerated LH in all age groups. The FSH response was not exaggerated in children. CONCLUSION: Although a positive hCG test excludes biosynthetic defects of testosterone, an inadequate response does not exclude AIS. Basal LH and testosterone may not be raised during early infancy. An LHRH stimulation test might be useful for evaluating cases of suspected AIS presenting in mid-childhood.
OBJECTIVE: To study the value of measuring serum luteinising hormone (LH), follicle stimulating hormone (FSH), testosterone, and dihydrotestosterone (DHT) in androgen insensitivity syndrome (AIS). DESIGN: Retrospective study of patients on a nationwide register of AIS. PATIENTS: Sixty one cases of AIS with androgen receptor (AR) dysfunction (abnormalities of the AR gene and/or abnormal AR binding) were divided into three age groups: infants, < 1 year old; children, 1-13 years old; and postpubertal, > 13 years old. MEASUREMENTS: Age, dose of human chorionic gonadotrophin (hCG) stimulation, pre-hCG and post-hCG serum testosterone values, serum DHT values, and serum LH and FSH values before and after LH releasing hormone (LHRH) stimulation. RESULTS: In 23 of 30 infantstestosterone was within age related reference ranges; six were above this range. The median testosterone rise following variable dosage of hCG was 9.5 times the basal value. The increment was not related to the hCG dose, age, or basal concentration of testosterone. The median basal and stimulated testosterone:DHT ratios were 2.5 and 6.1, respectively. The median increment in DHT was 2.2-fold. Seventeen of 18 FSH and 11 of 19 LH measurements were within age related ranges in infants; in seven patientsLH values were above the range. LHRH stimulation performed in 39 patients showed an exaggerated LH in all age groups. The FSH response was not exaggerated in children. CONCLUSION: Although a positive hCG test excludes biosynthetic defects of testosterone, an inadequate response does not exclude AIS. Basal LH and testosterone may not be raised during early infancy. An LHRH stimulation test might be useful for evaluating cases of suspected AIS presenting in mid-childhood.
Authors: J Imperato-McGinley; R E Peterson; T Gautier; G Cooper; R Danner; A Arthur; P L Morris; W J Sweeney; C Shackleton Journal: J Clin Endocrinol Metab Date: 1982-05 Impact factor: 5.958
Authors: S Faisal Ahmed; John C Achermann; Wiebke Arlt; Adam H Balen; Gerry Conway; Zoe L Edwards; Sue Elford; Ieuan A Hughes; Louise Izatt; Nils Krone; Harriet L Miles; Stuart O'Toole; Les Perry; Caroline Sanders; Margaret Simmonds; A Michael Wallace; Andrew Watt; Debbie Willis Journal: Clin Endocrinol (Oxf) Date: 2011-07 Impact factor: 3.478
Authors: Hemchand K Prasad; Vaman V Khadilkar; Rahul Jahagirdar; Anuradha V Khadilkar; Sanjay K Lalwani Journal: Indian J Endocrinol Metab Date: 2012-05
Authors: S Faisal Ahmed; John C Achermann; Wiebke Arlt; Adam Balen; Gerry Conway; Zoe Edwards; Sue Elford; Ieuan A Hughes; Louise Izatt; Nils Krone; Harriet Miles; Stuart O'Toole; Les Perry; Caroline Sanders; Margaret Simmonds; Andrew Watt; Debbie Willis Journal: Clin Endocrinol (Oxf) Date: 2015-08-13 Impact factor: 3.478
Authors: A Lucas-Herald; S Bertelloni; A Juul; J Bryce; J Jiang; M Rodie; R Sinnott; M Boroujerdi; M Lindhardt Johansen; O Hiort; P M Holterhus; M Cools; G Guaragna-Filho; G Guerra-Junior; N Weintrob; S Hannema; S Drop; T Guran; F Darendeliler; A Nordenstrom; I A Hughes; C Acerini; R Tadokoro-Cuccaro; S F Ahmed Journal: J Clin Endocrinol Metab Date: 2016-07-12 Impact factor: 5.958
Authors: R Nixon; V Cerqueira; A Kyriakou; A Lucas-Herald; J McNeilly; M McMillan; A I Purvis; E S Tobias; R McGowan; S F Ahmed Journal: Hum Reprod Date: 2017-10-01 Impact factor: 6.918