Endocrine Abstracts

Beta-thalssaemia major (BTM) is a rare disease that encompasses a vast range of endocrinological complications, despite of the improvement of treatment protocols. The aim of this study was to identify the clinical and hematological parameters associated with osteoporosis, a frequent complication found in beta-thalassaemia patients.Patients with BTM were evaluated in the Endocrinology Department of Elias Hospital between February 2004 and March 2016. Only...

Congenital adrenal hyperplasia (CAH) is a group of diseases which develop as a result of deficient enzymes or co-factor proteins required for cortisol biosynthesis. Depending on the defect, the manifestations range from life-threatening salt-wasting syndrome to almost no symptoms. Nevertheless, some subclinical subtypes can cause impediments in particular situations. This case brings to light a possible manifestation of CAH, revealed in the process of in-vitro fertilization. W...

Introduction: Premature pubarche is defined as early appearance of pubic or axillary hair without any other signs of puberty, before 8 years of age in girls and 9 years in boys. We present the case of a 6 months old boy who came to us with scrotal hair since birth with moderate progression until present.Case presentation: A 6 months old male patient was referred to our clinic to investigate the presence of thick scrotal hair, affirmatively present at bir...