Background: Introital stenosis in CAH girls could occur due to poor estrogenisation of vaginal tissue. It is unknown whether CAH genital skin is equally capable of responding to estrogens and androgens, depending on form and degree of external virilisation.
Objective and hypotheses: To determine the levels of oestrogen α (ERa) and androgen receptors (AR) immunoreactivity in genital tissues of girls with CAH.
Method: Surgical waste tissues obtained from girls with CAH (Prader III-IV) undergoing clitoroplasty (n=13; 2.4 years (2.1; 4.0), SW/SV=11/2) and vaginoplasty (n=8; 16.7 years (15.2; 17.6), SW/SV=3/5) were screened for ERα and AR using immunohistochemistry. All patients received adequate replacement therapy. Proportions of immunopositive nuclei were calculated for each specimen.
Results: In clitorophallic tissue (labia minora) ERα were localized in parabasal and basal epidermal cells and in dermal fibroblasts, whereas AR were observed only in parabasal cells. There was no difference between SW and SV forms in ERα levels (16.8% vs 15%) and in AR level (9.7% vs 15.2%), P>0.05. No difference was observed in ERα and AR expression between patients with Prader III and IV (15.4% vs 20.8% for ERα and 15.6% vs 10.4% for AR), P>0.05. In vagina ERα were localised in basal, parabasal and intermediate epithelial cells and in stromal fibroblasts. AR were observed only in basal epithelial cells. There was no difference between SW and SV forms in ERα levels (55.8% vs 46.6%) and in AR levels (5.4% vs 7.9%), P>0.05. No difference was found in ERα and AR expression between patients with Prader III and IV (54.1% vs 43.9% for ERα and 9.2% vs 3.9% for AR), P>0.05.
Conclusion: The distribution of ERα and AR in genital tissues in girls with CAH is similar to its distribution in healthy adult women. Expression of these receptors doesnt depend on form of CAH and degree of external virilisation.
01 - 03 Oct 2015
European Society for Paediatric Endocrinology