hrp0095lb6 | Late Breaking | ESPE2022

A case series of two adolescent diabetic siblings due to novel mutation in CFAP126

Aftab Sommayya , Nadeem Anjum Muhammad , Saeed Anjum , Arshad Cheema Huma

Background: CFAP126 gene does play a role in the regulation of pancreatic beta cell. Literature suggests that CFAP126 was significantly downregulated in human islet cells of pre-diabetic as compared to non-diabetic and further downregulated in type 2 diabetics. However, to date CFAP126 has not been reported to cause clinical diabetes. We are reporting 2 diabetic siblings, with strong family history of type 2 diabetes on maternal side...

hrp0095lb2 | Late Breaking | ESPE2022

Aromatase deficiency due to novel CYP19A1 mutation: A rare cause of maternal virilization and atypical genitalia.

Aftab Sommayya , Shaheen Tahir , Manzoor Jaida , Nadeem Anjum Muhammad , Saeed Anjum , Arshad Cheema Huma

Background: Aromatase deficiency is a rare autosomal recessive condition due to mutation in CYP19A1 encoding aromatase enzymes. This enzyme protects fetus and mother from excess of androgens by converting them into estrogen. Lack of its activity results in accumulation of androgens which in turn lead to maternal and fetal virilization. We are reporting a neonate with atypical genitalia with severe maternal virilization due to a novel mutation in C...

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...

hrp0094p2-64 | Bone, growth plate and mineral metabolism | ESPE2021

Lack of Cinacalcet response in Neonatal Severe Hyperparathyroidism (NSHPT) due to homozygous CASR mutation

Haider Ammar , Aftab Sommayya , Chaudhary Shumaila , Qadir Mazhar , Nadeem Anjum Muhammad , Saeed Anjum , Shaheen Tahir , Haroon Farah , Arshad Cheema Huma , Shaukat Mehmood , Ahmad Khawaja , Waheed Irfan ,

Background: Neonatal severe hyperparathyroidism (NSHPT) is a rare disorder caused by inactivating calcium-sensing receptor (CASR) mutation characterized by striking hyperparathyroidism leading to severe hypercalcemia. Heterozygous loss of function in CASR gives rise to a benign variant called familial hypocalciuric hypercalcemia which needs no treatment. We are reporting 3 cases of NSHPT due to inactivating homozygous CASR mutation n...