Endocrine Abstracts

17β-Hydroxysteroid dehydrogenase type 3 (encoded by HSD17B3) catalyses the conversion of Δ4-androstene-3.17-dione to testosterone and has a key role in male sexual development. Mutations in the HSD17B3 gene can result in reduced enzyme activity and decreased testosterone synthesis, leading to a rare autosomal recessive aetiology of 46, XY Disorders of Sex Development (46, XY DSD) named 17β-HSD3 deficiency. Here, we characterised three Tunisian ...

Background: Azoospermia is present at approximately 1% of the man. karyotype can show number and structure abnormalities of the sexe chromosomes.Case: 16 years old boy,who was refered to the departement of endocrinology for a failure to growth since 8 years old. This patient was resulting from a marriage between blood relations. He had a congenital bilateral hip luxation diagnosed since birth but untreated.He had a gait disorder with a low weight 32 kg &...

Introduction: Congenital hypothyroidism (CH) is the most common congenital endocrine disease since it affects 1/3000–1/4000 births. The involvement of genetics is no longer discussed and several genes have been implied in the different clinical forms of thyroid dysgenesis.Patients and methods: We report ten cases of thyroid dysgenesis collected at the pediatric and endocrinology departments of Sfax in Tunisia. The diagnosis was based on clinical, bi...