hrp0086p1-p376 | Gonads & DSD P1 | ESPE2016

Intratubular Large Cell Hyalinizing Sertoli Cell Tumor of the Testis Presenting with Prepubertal Gynecomastia: A Case Report

Tuhan Hale , Abaci Ayhan , Sarsik Banu , Ozturk Tulay , Olguner Mustafa , Catli Gonul , Anik Ahmet , Olgun Nur , Bober Ece

Background: Intratubular Large Cell Hyalinizing Sertoli Cell Neoplasia (ITLCHSCN) resulting from Sertoli cells of the testis are mainly reported in young adults and these are rarely seen in childhood.Objective and hypotheses: In this case report, an eight-and-a-half-year old case presenting with complaint of bilateral gynecomastia since two years, showing no endocrine abnormality in laboratory during 2-years of follow-up, determined to have progression i...

hrp0089p3-p353 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P3 | ESPE2018

A Novel Compound Heterozygous Mutation in CYP19A1 Resulting in Aromatase Deficiency with Normal Gonadotropin Levels and Ovarian Tissue

Acar Sezer , Paketci Ahu , Onay Huseyin , Cankaya Tufan , Gursoy Semra , Ozhan Bayram , Abacı Ayhan , Ozer Erdener , Olguner Mustafa , Bober Ece , Demir Korcan

Introduction: Aromatase deficiency leading to virilization in mother and female fetuses during pregnancy is a rare disease. It is characterized by impaired estrogen production, increased gonadotropins, and ovarian cysts. Herein, we report a clinical phenotype of the virilized female due to a novel compound heterozygous mutation in CYP19A1.Case report: A 4-month-old girl was referred due to cliteromegaly. Her mother had developed acne, hair loss,...