IMPE Abstracts

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: 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...

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...