hrp0092p3-310 | Late Breaking Abstracts | ESPE2019

Case Report: Primary Hyperparathyroidism Presenting as a Brown Tumor of Mandible in an Adolescent Girl - An Unusual Presentation with Challenges and Outcome

Manzoor Jaida , Ahmed Saeed , Talat Nabila , Ali Qureshi Abid , Tahir Aisha

Brown tumor is a rare non-neoplastic focal giant cell lesion resulting due to increase osteolytic activity by excess of parathormone in cortical bone which is replaced by fibrovascular tissue, giant cells with hemorrhages and hemosiderin. It is a rare late stage bone sequelae of long standing hyperparathyroidism. Parathyroid adenoma is the commonest cause of primary hyperparathyroidism.We present a referred case of 15-year-old girl with highly aggressive...

hrp0098p2-32 | Bone, Growth Plate and Mineral Metabolism | ESPE2024

A rare presentation of parathyroid adenoma as bilateral genu valgum in an adolescent Pakistani girl.

Zahid Muhammad , Aftab Sommayya , Saddam Hussain Syed , Bilal Muhammad , Ali Qureshi Abid

Background: Primary hyperparathyroidism is a rare cause of persistent hypercalcemia in children and adolescents, with parathyroid adenoma being the most common underlying etiology. We are reporting a case of primary hyperparathyroidism due to parathyroid adenoma in an adolescent Pakistani girl with an unusual presentation of difficulty in walking due lower limb deformity (bilateral genu valgum).Case summary: A 13-year-ol...

hrp0094p2-63 | Bone, growth plate and mineral metabolism | ESPE2021

Diagnostic Challenges of Vitamin D-Dependent Rickets Type 1A (VDDR1A) caused by CYP27B1 mutation in Resource Limited Countries: A Case Series from Three families

Aftab Sommayya , Shaheen Tahir , Nadeem Anjum Muhammad , Imran Ahmed , Saeed Anjum , Ali Qureshi Abid , Cheema Huma Arshad ,

Background & Aim: Vitamin D-dependent rickets type 1 A (VDDR1A) is an autosomal recessive condition caused by mutation in CYP27B1, which encodes 1 α-hydroxylase enzyme that catalyzes the conversion of 25-hydroxyvitamin D (25OHD) to 1,25-dihydroxyvitamin D (1,25 (OH)2D). We are reporting 4 cases of VDDR1A due to CYP27B1 mutation initially misdiagnosed as vitamin D deficient and hypophosphatemic rickets.<p class="abstext...

hrp0098p2-29 | Bone, Growth Plate and Mineral Metabolism | ESPE2024

Vitamin D dependent rickets Type 2A: A case series of two siblings with novel mutation in vitamin D receptors responded to high dose oral calcium and calcitriol.

Mehak Noor-ul-ain , Aftab Sommayya , Saddam Hussain Syed , Imran Ahmed , Ali Qureshi Abid , Saeed Anjum , Arshad Cheema Huma

Background: Vitamin D dependent rickets Type 2A (VDDR2A) is a rare autosomal recessive disorder due to mutation in vitamin D receptor (VDR) leading to hypocalcemia, secondary hyperparathyroidism and signs of rickets. It usually presents with bony deformities along with complete or partial alopecia and is challenging to manage.Objective: We are reporting case series of two siblings with VDDR2A who were managed in a non-co...