hrp0092p3-220 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

A Rare Cause of SRY (-) 46, XX DSD: Aromatase Deficiency

Buğrul Fuat , Güran Tülay

Introduction: Aromatase deficiency is a rare cause of autosomal recessive 46, XX disorders of sex development (DSD) due to CYP19A1 gene mutations. The affected patients cannot have a normal estrogen biosynthesis. It is characterized by low serum estrogen, increased gonadotropins, and ovarian cysts. Herein, we report a new case with aromatase deficiency.Case Report: A 1-month-old girl was referred due to cliterom...

hrp0092p3-3 | Adrenals and HPA Axis | ESPE2019

A 46, XX Patient with 21-OHD Diagnosed During the Etiologic Workup of Male Infertility

Buğrul Fuat , Yildirak Ekrem , Güran Tülay

Introduction: Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders of the steroid biosynthesis. 21-hydroxylase deficiency (21-OHD) represents 90–95% of CAH patients and causes adrenal insufficiency and virilization. Although most patients are diagnosed in childhood, the diagnosis of some classical CAH cases are extremely delayed up to sixth and seventh decades of life. Herein, we report a 46, XX patient with 21-OHD diagnose...