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...

Introduction: CAH secondary to 11 beta hydroxylase deficiency accounts for approximately only 5% of cases. Its incidence in general population is estimated as 1 in 250,000 to 1 in 100,000. It is caused by mutation in CYP11B1 gene located on chromosome 8q24, which is responsible for hydroxylation of 11-deoxycortisol to cortisol, so levels of corticotrophin precursors become elevated and shunted towards androgen biosynthesis which leads to ambiguous genitalia in...