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: Childhood hyperparathyroidism is very uncommon having the incidence of 1 – 2.5 per 100,000. It is mostly manifested after 10 years of age and has been transmitted as autosomal dominant fashion clinical presentation is very unusual such as headache, abdominal pain, nausea, vomiting, constipation, polyuria, and polydipsia. Brown tumors are focal bone lesions encountered in patient with uncontrolled hyperparathyroidism. Overall diagnosis of th...

Introduction: NF1 is autosomal dominant disorder that is caused by mutation in NF1 gene, known as “NEUROFIBROMIN” which acts as inhibitor of oncogene RAS. . NF1 has wide variety of association in context with puberty, only few cases are reported in Pakistan with different variety of pubertal growth in association with NF1.Cases: we present two cases of NF1 with pubertal variation that presented to our pediatr...