IMPE Abstracts

Congenital adrenal hyperplasia (CAH) is a monogenic autosomal recessive disorder that may involve different steroidogenic enzymes. POR (P450 oxidoreductase) deficiency is a rare variant of unknown incidence and is the most complex form of CAH. POR is an electron-donating enzyme for CYP17A1, CYP21A2, and CYP19A1. Clinically it can be observed as a combined deficiency of CYP17A1, CYP21A2, and secondary to the donating defect to aromatase, the mother can become virilized during p...

Dicer one mutation syndrome is a familial tumour predisposition entity caused by mutations on Dicer 1, an important component of the micro-RNA processing pathway. Clinical manifestations include pleuropulmonary blastoma, anaplastic renal sarcoma, Wilms tumour, Sertoli Leydig cell tumour, differentiated thyroid carcinoma, ciliary body medulloepitelioma, embryonal rhabdomyosarcoma and primary brain tumours. We describe a case of a nine-year-old boy seen in the endocrinology clin...

Introduction: Leydig cell hyperplasia (LCH) or tumour are rare in children, representing less than 3% of all testicular tumours and typically presents as gonadotropin-independent precocious puberty due to excess androgen secretion. LCH can be defined as an increase in the size and number of Leydig cells within the testicles. These cells are responsible for the production of testosterone in males.Case: Our patient was a 3...