hrp0092fc11.3 | Pituitary, Neuroendocrinology and Puberty Session 2 | ESPE2019

A Novel Genetic Aetiology for Familial Neonatal Central Diabetes Insipidus

lavi Eran , Sharaf Muna , Abu-Libdeh Abdulsalam , Renbaum Pinchas , Levy-Lahad Ephrat , Zangen David

Background: Central diabetes insipidus (CDI) in the neonatal age is usually a result of intracranial insult, either congenital or acquired. Familial CDI is usually an autosomal dominant disorder, presenting later in childhood (1-6 y) with polyuria and mostly caused by mutations in the Neurophysin II moiety of the AVP-NPII prohormone gene; these interfere with prohormone processing leading to gradual destruction of AVP secreting cells and result in arginine vas...

hrp0095p1-175 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

Primary Ovarian Failure as a Result of Homozygous Mutations in MCM10 Gene

Landau Zohar , Florsheim Natan , Simon Itamar , Kramer Joyce , Renbaum Pinchas , Levy-Lahad Efrat , Zangen David

Background: Primary ovarian failure is (POF) characterised by primary amenorrhoea or early menopause in females. Minichromosome maintenance 10 (MCM10) is a gene involved in DNA damage repair, DNA replication and chromatin formation has received attention as a potential genetic etiology for neoplastic disease. Drosophila with mutated MCM10 have subfertility and dysfunction in female germline development. In humans, biallelic mutations of the MCM10 causes NK cel...

hrp0095p1-575 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

A novel mutation in the BMP15 gene in a Palestinian family with primary amenorrhea revealing molecular genetics of premature ovarian insufficiency

Abu-Libdeh Abdulsalam , Floresheim Natan , Renbaum Pinchas , Levy-Lahad Ephrat , Zangen David

Background: Severe XX-DSD and ovarian dysgenesis (OD) are the extreme clinical phenotype of approximately 1% of women that are affected by primary ovarian insufficiency (POI). BMP15 and GDF9 are two members of transforming growth factor ß (TGF-β) superfamily; they share an oocyte-specific expression pattern and play a crucial role in early folliculogenesis. Only XX cases of mutations in BMP15 have been proved to cause human disease. Here we describe...