Endocrine Abstracts

Combination of Turner syndrome (TS) and classical congenital adrenal hyperplasia (CAH) is rare worldwide. Incidence of CAH - autosomal recessive disorders characterized by enzyme defect of steroidogenic pathway, of which 90% ocuurs in the CYP21A2 gene coding 21-hydroxylase is 1:10000-16000. Incidencie of Turner syndrome is 1:2500 worldwide. Phenotypically, females with TS may present with a wide spectrum of clinical features. They may exhibit short stature, virilization, premature ovarian failure and compromised fertility. We present a 57-year-old women suffering from both 45X0/46XX mosaic Turner syndrome and salt wasting form of CAH. After birth she was misdiagnosed as a male. She had short stature and ambiguous genitalia – presence of the phallus with perineoscrotal hypospadias and incomplete urogenital opening. Laparoscopy at age of six showed female sex organs. After this examination clitoroplasty and vaginoplasty was done. Karyotyping revealed a 45X0/46XX pattern without sex determining region Y on gene analysis. The presence of virilizing feature at puberty could not explain the diagnosis of Turner syndrome. She had amenorhea, marked hirsutism and was of short stature (height 130 cm). Laboratory tests revealed elevated level of 17-hydroxyprogesterone, dehydroepiandrosterone and low cortisol concentrations. Congenital adrenal deficiency was then suspected. With the genomic analysis, CYP 21A2 mutation in IN2G and united deletion/conversion was detected. She was treated with hydrocortisone. In adolescent hydrocortisone was replaced by dexamethasone. Fludrocortisone was added to the treatment, because laboratory tests revealed increased plasma renin concentration. Under a continuous treatment, her state improved.

Keywords: Turner syndrome, congenital adrenal hyperplasia, 21-hydroxylase deficiency, CYP21A2