hrp0092p1-105 | Pituitary, Neuroendocrinology and Puberty | ESPE2019

Familial Central Precocious Puberty Caused by a Novel MKRN3 Mutation

Admoni Osnat , Bercovich Dani , Tenenbaum-Rakover Yardena

Background: Mutations in the imprinted gene MKRN3 have been associated with inherited central precocious puberty (CPP). MKRN3 is a maternal imprinted gene and the disease is exclusively paternally transmitted in an autosomal dominant manner. Although the mechanism is unclear, it has been suggested that MKRN3 inhibits hypothalamic GnRH release, leading to a loss-of-function mutation and CPP. To date, more than 20 MKRN3mutations have b...

hrp0092p2-19 | Adrenals and HPA Axis | ESPE2019

Hyperandrogenism in a 13-year-old Girl due to Glucocorticoid Receptor Mutation

Admoni Osnat , Bercovitch Dani , Tenenbaum-Rakover Yardena

Glucocorticoid resistance syndrome (GRS) is a rare genetic disorder caused by inactivating mutations of the NR3C1 gene encoding the glucocorticoid receptor. The phenotypic spectrum is broad but typically includes symptoms of adrenal insufficiency, mineralocorticoid excess and hyperandrogenism. So far, about 20 different mutations in NR3C1 presenting with the GRS phenotype have been reported.We report a 13-year-old girl that presented wi...

hrp0082p3-d1-927 | Puberty and Neuroendocrinology | ESPE2014

Basal LH Combined with the Tanner Stage of Breast Development can Predict the Gonadotropin Response Following GnRH Stimulation Test

Admoni Osnat , Schwartz Naama , Tenenbaum-Rakover Yardena

Background: The GnRH stimulation test is widely used in the evaluation of precocious puberty but it requires repeated blood sampling, time-consuming and uncomfortable for the patients.Objective and hypotheses: To identify which parameters can be used to predict pubertal response in GnRH stimulating test for the diagnosis of central precocious puberty (CPP) in girls.Method: Included in the study 123 girls aged 3–9 years that un...

hrp0092p1-430 | Thyroid (2) | ESPE2019

Clinical Characteristics and Long-Term Follow-Up of Patients with Congenital Hypothyroidism (CH) due to Thyroid Peroxidase (TPO) Gene Mutations

Tobias Leraz , Almagor Tal , Admoni Osnat , Khayat Morad , Elias-Assad Gadhir , Almashanu Shlomo , Tenenbaum-Rakover Yardena

Backround: Hereditary inborn errors of thyroid hormone synthesis account for 10-15% of congenital hypothyroidism (CH). Thyroid peroxidase (TPO) deficiency is the most common enzymatic defect with a frequency of 50-90%.Aim: In the present study our objective was to characterize the long-term clinical outcome in patients with TPO deficiency and to assess the association between development of multinodular goiter (M...

hrp0084p1-9 | Adrenal | ESPE2015

Founder Effect and the Clinical and Molecular Characteristics in a Cohort of Classical and Non-Classical Congenital Lipoid Adrenal Hyperplasia Due To StAR Mutations

Abu-Libdeh Abdulsalam , Shokrun Ariella Weinberg , Levy-Lahad Ephrat , Admoni Osnat , Tenenbaum-Rakover Yardena , Zangen David

Background: Classical and non-classical congenital lipoid adrenal hyperplasia (CLAH) are extremely rare condition caused by mutations in StAR. The degree of enzyme activity impairment determines the clinical phenotypes.Objective and hypotheses: To identify the genetic cause of primary adrenal insufficiency in a cohort of patients from 13 unrelated families with classical and non-classical CLAH, to correlate genotype to phenotype and to identify ...

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...