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...

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...

hrp0095p1-268 | Fat, Metabolism and Obesity | ESPE2022

Preliminary evidence for a strong effect of leptin on mood and behaviour in patients with congenital leptin deficiency

von Schnurbein Julia , Remy Miriam , Brandt Stephanie , Manzoor Jaida , Kohlsdorf Katja , Mahmood Saqib , Hebebrand Johannes , Wabitsch Martin

Purpose: States of starvation are characterized by reduced physical activity and social withdrawal. The reduction of leptin levels during starvation has been proposed to be a mediator of these changes, therefore we aimed to ascertain if leptin substitution in patients with congenital leptin deficiency (CLD) can increase physical activity and improve mood.Methods: Seven CLD patients were filmed prior to and after short te...

hrp0095fc4.1 | Fat, Metabolism and Obesity | ESPE2022

Natural History of LEP, LEPR and MC4R Deficiencies – A Population-Based Study

Saeed Sadia , Manzoor Jaida , Khanam Roohia , Janjua Qasim , Ning Lijiao , Ayesha Hina , Khan Waqas , Bonnefond Amélie , Hanook Sharoon , Butt Taeed , Arslan Muhammad , Froguel Philippe

Background: Proteins encoded by LEP, LEPR and MC4R genes are principally involved in driving the leptin-melanocortin pathway. Mutations in these genes induce a rare and severe form of monogenic obesity but the long-term evolution of these afflictions is unknown. Here, we carried out a clinical investigation on 132 children with LEP, LEPR and MC4R deficiency from Pakistan to evaluate progression of the disease and its impact on co-mor...

hrp0095lb25 | Late Breaking | ESPE2022

Challenges of Gender Assignment in Disorder of Sex Development (DSD) in Developing Countries

Aftab Sommayya , Manzoor Jaida , Shaheen Tahir , Hira Noore , Talat Nabila , Bilal Muahmmad , Iqbal Nasir Sajid , Tahir Warda , Usama Aziz Muhammad , Bari Attia , Ullah Ehsan , Mansoor Bugvi Saima , Bashir Shabnam , Akber Maida

Background: Gender assignment in children with disorder of sex development (DSD) is a key step in their management and needs detailed assessment. In developing countries, children with DSD are often presented late, due to lack of awareness and social stigmatization, which makes management more challenging.Methodology: Retrospective review of complex DSD cases (karyotyping different from current sex of rearing), presented...