hrp0084p2-188 | Adrenals | ESPE2015

Phosphoglucomutase-1 Deficiency Presented as Adrenal Insufficiency

Loewenthal Neta , Parvari Ruti , Haim Alon , Tavashi Judy , Hetshkovits Eli

Background: The congenital disorders of glycosylation (CDG) are a group of genetic diseases owed to defects in the biosynthesis of glycoproteins and other glycoconjugates. Phosphoglucomutase type 1(PGM1) deficiency is classified among the CDG. Varied range of clinical manifestations recently described includes hepatopathy, bifid uvula, malignant hyperthermia, hypogonadotropic hypogonadism, growth retardation, hypoglycaemia, myopathy, dilated cardiomyopathy, and cardiac arrest,...

hrp0084fc14.3 | Puberty | ESPE2015

The New Syndrome of Hypogonadotropic Hypogonadism, Arrythmogenic Right Ventricular Dysplasia, Facial Dysmorphism and Absence of Corpus Callosum is Associated to TAX1 Binding Protein 3 Gene Mutation

Hershkovitz Eli , Arafat Maram , Afawi Zaid , Loewenthal Neta , Haim Alon , Levitas Aviva , Parvari Ruti

Background: A growing list of genes has been implicated in the pathogenesis of congenital hypogonadotropic hypogonadism (HH).Objective and hypotheses: To identify the cause of a unique syndromic HH in a consanguineous Bedouin family.Method: Medical records of the patients were reviewed. Genotyping of the brothers and their parents and whole exome sequencing (WES) were performed.Results: Two brothers presented...