Endocrine Abstracts

Introduction: Growth is considered as an important concern in patients with congenital adrenal hyperplasia (CAH). It is a group of recessive autosomal disorder which may develop due to genes mutation. In childhood, congenital adrenal hyperplasia (CAH) is considered as the most common inherited adrenal disorder. CAH can negatively affect the synthesis pathway of cortisol which leads to decrease cortisol level and a rise in the production of adrenocorticotrophic hormone. A high ...

Background and Purpose: AHC (X-linked adrenal hypoplasia congenita) is a rare cause of adrenal insufficiency due to mutations in NROB1 gene. It traditionally causes hypogonadotropic hypogonadism. Rare cases of central precocious puberty due to NROB1 mutation has been reported so far. We present two interesting cases of NROB1 mutation from a same family with different presentations. This is first case report of NROB1 mutation from Pakistan. Case Report: I...

Background: Steroid cell tumour of ovaries comes under sex cord stromal tumour that accounts less than 0.1% of all ovarian tumour. Majority are benign in childhood age group. It may produce steroids and testosterone resulting in virilisation and Cushing’s syndrome. Histology remains the gold standard for diagnosis of NOS. The gross appearance of NOS generally is well circumscribed, solid and noncalcifed with a lobulated appearance Till date only 10 cases has been reported...