hrp0095p1-384 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

17 Β-Hydroxysteroid Dehydrogenase Type 3 Deficiency Diagnosed in Early Childhood

Öner Ganimet , Döğer Esra , Kayhan Gülsüm , Orhun Çamurdan Mahmut , Bideci Aysun

Introduction: 17 β-Hydroxysteroid Dehydrogenase Type 3 (17β-HSD3) enzyme provides the conversion of ∆4-Androstenedione (A) to testosterone (T) in testicles. 17β-HSD3 deficiency is a rare autosomal recessive cause of 46,XY disorders of sexual development (DSD) and is the most common form of testosterone biosynthesis defects. The external genitalia can vary from normal female appearance to atypical genitalia.C...

hrp0095p1-520 | Growth and Syndromes | ESPE2022

A Case of Familial Short Stature: A Novel Variant of ACAN

Kaya Özdemir Esma , Döğer Esra , Kayhan Gülsüm , Orhun Çamurdan Mahmut , Bideci Aysun

Introduction: Aggrecan, a chondroitin sulfate proteoglycan encoded by the ACAN gene, is an important structural component of the cartilage matrix. Variants in the ACAN gene are associated with a group of skeletal dysplasias called aggrecanopathy, which shows a broad phenotypic spectrum. It has been reported that some heterozygous variants in this gene are responsible for the etiology of familial or idiopathic short stature located at the lightest end of the sp...

hrp0095p1-521 | Growth and Syndromes | ESPE2022

Case with Hoxa Gene Cluster Delete

Kaya Özdemir Esma , Döğer Esra , Kayhan Gülsüm , Orhun Çamurdan Mahmut , Bideci Aysun

Entrance: HOXA gene deletions cause an appearance characterized by short stature, mild developmental delay, characteristic face, small hands and feet, short and large thumbs, and urogenital malformations. Clinical signs may vary according to the content of the deletion region.Case: The case applied to our clinic with the complaint of short stature. It was learned that the patient was born at term 2500 gr and had bilatera...