Abstract
IntroductionOsteopenia and osteoporosis have been reported in adults with Complete Androgen Insensitivity Syndrome (CAIS). Little is known about changes in bone mineral density (BMD) in adolescents with CAIS and whether it is affected by early gonadectomy. Body composition data have not been reported.MethodsSingle-center, retrospective study of CAIS adolescents who underwent dual-energy x-ray absorptiometry (DXA) (Hologic, Horizon A). Body composition is presented as lean and fat mass indices (LMI, FMI). Z-scores for lumbar spine areal BMD (LBMD), total body less head (TBLH), bone mineral content (BMC), LMI, and FMI were calculated using female normative data. Results are expressed as median and min, max.ResultsSix females with genetically confirmed CAIS were identified—one with intact gonads and five with history of gonadectomy at 2–11 months. In the subject with intact gonads, LBMD-Z and TBLH BMC-Z were −1.56 and −1.26, respectively, at age 16 years. Among those with gonadectomy, LBMD-Z was −1.8 (−3.59 to 0.49) at age 15.6 years (12–16.8) and decreased in all three subjects who had longitudinal follow-up despite hormone replacement therapy (HRT). Adherence to HRT was intermittent. LMI-Z and FMI-Z were 0.1 (−1.39 to 0.7) and 1.0 (0.22 to 1.49), respectively.ConclusionsThese limited data indicate that adolescents with CAIS have bone mass deficit. Further studies are needed to understand the extent of BMD abnormalities and the effect of gonadectomy, especially early in childhood, and to establish the optimal HRT regimen for bone accrual. Data on lean mass are reassuring.
Highlights
Osteopenia and osteoporosis have been reported in adults with Complete Androgen Insensitivity Syndrome (CAIS)
Body composition can influence both skeletal health and cardiometabolic risk factors [21,22,23], and relevant in CAIS is the impact of hypogonadism and gonadal hormones on lean mass and fat distribution [24,25,26,27]. To better understand such potential alterations in adolescents with CAIS, we describe bone mineral density (BMD), body composition, and changes in these outcomes in a series of patients treated with hormone replacement therapy (HRT)
We identified six subjects with CAIS—one had intact gonads and five had history of gonadectomy early in life
Summary
Osteopenia and osteoporosis have been reported in adults with Complete Androgen Insensitivity Syndrome (CAIS). In the fetus affected by CAIS, the fully functional SRY protein on the Y chromosome permits male gonad development, Body Mass in CAIS Adolescents normal secretion of testosterone and anti-Mullerian hormone, and regression of the Mullerian structures destined to be the uterus and fallopian tubes [2]. Because testosterone is metabolized into 5adihydrotestosterone (5-DHT) via 5a-reductase-2 or into 17Bestradiol via P450 aromatase, adolescents with CAIS and intact gonads are able to achieve the expected effects of puberty including typical breast development, widening of the hips, redistribution of fat, growth acceleration, and bone accrual via 17B-estradiol, while they lack axillary and pubic hair development [6]
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Free) 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a call
