ESPE Abstracts

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...

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...

Context: Intravenous Gonadotropin-Releasing-Hormone (GnRH) stimulation test has a central role in evaluating gonadotropic activation in the diagnosis and monitorization of the treatment in patients with central precocious puberty (CPP). However, this test is invasive, laborious, costly and availability of GnRH preparation is limited in some countries.Objective: To evaluate the utility of the LH level measured 40-minutes ...

Context: Assessment of breast development by physical examination(PE) can be difficult especially in overweight girls and in early stages. We aimed to study ultrasonography(USG) on evaluation of breast tissue in girls with breast development< 8 years of age.Patients and Methods: In this prospective study, 125 girls (age 7.1&pm;1.5 years) with early breast development were evaluated by breast USG for ultrasonographic b...