ESPE Abstracts

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...

Background: In adrenal gland 3β-HSD2 catalyses the conversion of Δ5 to Δ4 steroids (i.e., pregnenolone to progesterone,17 α-hydroxypregnenolone to 17-OHP and DHEA to androstenedione). Defect in this enzyme can affect glucocorticoid, mineralocorticoids and sex steroid synthesis but the clinical and biochemical profile can be very complicating and confusing due to conversion of intermediate steroids to more ac...

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...

Background: Hypomagnesemia type 1 (HOMG1) is a rare autosomal recessive condition due to TRPM6 mutation, leading to decrease intestinal magnesium absorption.Objective: To determine the clinical spectrum of HOMG1 due to TRPM6 mutation at a tertiary centre.Case Series: Seven patients (all male) from six different families of hypomagnesemia type 1 due to homozygous TRPM6 mut...

Background & Aim: Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is an autosomal recessive condition characterized by inadequate production of cortisol and aldosterone and accumulation of androgens. Beta thalassemia is an autosomal recessive condition caused by defective beta-globin resulting in accumulation of unbound alpha globin chains leading to ineffective erythropoiesis. We are reporting an unusual case of CAH due to 21-hydroxy...

Background: Wolcott-Rallison syndrome is a rare autosomal recessive condition. It is characterized by neonatal or early-onset, non-autoimmune insulin-dependent diabetes, spondyloepiphyseal dysplasia, renal or hepatic failure and growth retardation.Objective: We are reporting a novel homozygous pathogenic mutation in the EIF2AK3 c.1277T>A p. (Leu426*) in a Pakistani child who presented with neonatal diabetes, ...

Background: Autosomal-dominant hypocalcemia hypercalciuria (ADHH) is rare a genetic disorder characterized by hypocalcemia, hypercalciuria, low or inappropriately normal levels of parathyroid hormone caused by heterozygous activating mutation of calcium sensing receptor. It may be familial or sporadic with variable genotype and phenotype correlation.Objective: We are reporting a de-novo heterozygous variant of the Ca...

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...

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...

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...