IMPE Abstracts

Introduction: 5 alpha reductase deficiency is an autosomal recessive genetic disorder recognized as a rare cause of disorder of sexual differentiation that is limited to males mostly. Phenotype of patients associated with this is usually small phallus, bifid scrotum, urogenital sinus with perineal hypospadias and undescended testes. At puberty, phallus size increases and viralization occurs. We here present 2 genetically proven cases from Pakistan with this ra...

Introduction: Vitamin D dependent rickets is inherited as an autosomal recessive disease characterized by either defective metabolism of vitamin D or end organ resistance to vitamin D. Patients with these conditions commonly present with symptoms of rickets, hypocalcemia, bony changes and secondary hyperparathyroidism. Vitamin d dependent rickets can be broadly classified in two types; type 1 and type 2; on the basis of genetic defect, laboratory parameters as...