hrp0084p2-184 | Adrenals | ESPE2015

Familial Hyporeninemic Hyperkalemia and Hypertension (Pseudohypoaldosteronism Type II) in Infancy and Childhood

Hanukoglu Aaron , London Shira , Halevi Rafael , Tenenbaum-Rakover Yardena

Background: Pseudohypoaldosteronism type II (PHAII), is a rare renal tubular disease with an autosomal dominant inheritance characterized by hyperkalemic, hyperchloremic acidosis and hyporeninemia. Mutations in WNK4 and WNK1 were found initially. Recently have shown that KLHL3 and CUL3 are also causative genes.Objective and hypotheses: Hypertension, an essential symptom of PHAII, manifest in adolescents and young adults. In the absence of family history ...

hrp0095p1-220 | Bone, Growth Plate and Mineral Metabolism | ESPE2022

Hypocalcemia as the Initial Presentation of Type2 Bartter Syndrome: A Family Report

London Shira , A. Levine Michael , Li Dong , Spiegel Ronen , Lebel Asaf , Tenenbaum-Rakover Yardena

Context: Bartter syndrome (BS) is a group of rare autosomal-recessive tubulopathies characterized by hypokalemic, hypochloremic metabolic alkalosis in which the primary defect is a deficiency of transporters involved in sodium chloride reabsorption. Type 2 BS results from a defect in the renal outer medullary potassium channel encoded by the KCNJ1 gene. Type 2 BS presents with polyhydramnios, intrauterine growth retardation, prematurity, failure to thrive, pol...

hrp0092p2-244 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

The Evolving Role of Whole Exome Sequencing in the Diagnosis of Disorders of Sex Development (DSD)

Tenenbaum-Rakover Yardena , Admoni Osnat , Elias-Assad Ghadir , London Shira , Noufi- Barhoum Marie , Ludar Hana , Almagor Tal , Bertalan Rita , Bashamboo Anu , McElreavey Ken

Background: Disorders of sex development (DSD) are classified as a congenital discrepancy between external genitalia, and gonadal and chromosomal sex. Despite extensive laboratory and imaging investigations, the etiology of DSD is unknown in more than 50% of patients. We aimed to evaluate the etiology of DSD using whole exome sequencing (WES) technique.Methods: Eleven patients with DSD (ten with 46,XY and one with 46...

hrp0089p2-p110 | Diabetes & Insulin P2 | ESPE2018

Neonatal Diabetes Mellitus Caused by a Novel GLIS3 Mutation in Twins

London Shira , Elias-Assad Ghadir , Barhoum Marie Noufi , Felszer Clari , Paniakov Marina , Vainer Scott , Flanagan Sarah , Houghton Jayne , Rakover Yardena Tenenbaum

Background: GLIS3 is a transcription factor involved in the development of pancreatic β-cells, the thyroid, eyes, liver and kidneys. In the pancreas, GLIS3 is expressed at various stages of ductal and endocrine cell development, and is a critical regulator of β-cell development and insulin expression. Mutations in GLIS3 have been recently described as a rare cause of neonatal diabetes and congenital hypothyroidism (CH), reported in only 20 ...