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 ...

A rare skeletal dysplasia-Progressive Pseudorheumatoid dysplasia—close mimicker of juvenile idiopathic arthritisIntroduction: Progressive pseudorheumatoid dysplasia (PPD) or spondyloepiphyseal dysplasia tarda with progressive arthropathy (SEDT-PA) is a rare autosomal recessive arthropathy of childhood involving the entire skeleton. Here we report first genetically proven case of PPRD from the country. Often mistaken as juvenile rheumatoid arthritis,...

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...

Introduction: 46XY gonadal dysgenesis is one of the important cause of DSD with varied clinical presentation Genetic mutations like SRY, NR5A1, SOX9, DHX37 are common mutations that can cause gonadal dysgenesis. Genetic testing for reaching final diagnosis in 46 XY DSD is increasingly playing a crucial role in the management plan.Case: A 10-month-old patient presented in our DSD clinic with complaint of atypical genitali...

We report a Pakistani family of three adults and five children affected with same disorder. An 8-year-old boy referred to us for the management of osteogenesis imperfecta according to mother he was not gaining height, increasing head size, and bowing of legs since the age of 2 years. He had dental caries and brittle teeth. Two of his maternal uncles and one maternal aunt were suffering from the same disease; their children also showed similar complaints. A paternal uncle and a...