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...

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 ...

hrp0084p2-327 | DSD | ESPE2015

A Novel Mutation of Anti-Mullerian Hormone Receptor Gene in a Male with Persistent Mullerian Duct Syndrome

Elias-Assad Ghadir , Elias Marwan , Pressman Asher , Tenenbaum-Rakover Yardena

Background: Persistent Mullerian duct syndrome (PMDS) is a rare genetic disorder of internal male sexual development defined as a lack of regression of Mullerian derivatives in an otherwise normally virilized XY male. Approximately 85% of the cases are caused by mutations of the Anti-Mullerian hormone (AMH) or its’ receptor (AMHR-II) genes. In the current study, we report a novel homozygous mutation in the AMHR-II gene in a patient with PMDS and discuss the dilemma of the...

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...

hrp0092p3-200 | Pituitary, Neuroendocrinology and Puberty | ESPE2019

Extreme Short Stature and Neurological Impairment in a 17-Year-Old Male with Untreated Combined Pituitary Hormone Deficiency Due to POU1F1 Mutation

Majdoub Hussein , Amselem Serge , Bercovich Dani , Rath Shoshana , Tenenbaum-Rakover Yardena

Introduction: POU1F1 is an essential transcription factor for the differentiation, proliferation and survival of somatotrophs, lactotrophs, and thyrotrophs. Mutations in the POU1F1 gene are characterized by growth hormone (GH), thyrotropin and prolactin deficiencies, commonly presenting with growth retardation and central hypothyroidism. Since the first report in 1992, about 26 mutations have been identified in POU1F1.<...

hrp0089p3-p323 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P3 | ESPE2018

Novel Mutation in Two Related 46, XY Phenotypic Females with 17β-Hydroxysteroid Dehydrogenase 3 Deficiency

German Alina , Tiosano Dov , Chertin Boris , Nadeem Sabea , Tenenbaum-Rakover Yardena

Introduction: Deficiency of 17β-hydroxysteroid dehydrogenase 3 (17β-HSD3) enzyme encoded by HSD17B3 is a rare cause of disorders of sex development (DSD). The phenotype associated with 17β-HSD3 deficiency in 46, XY individuals is variable, ranging from predominantly male external genitalia with micropenis and hypospadias to completely female external genitalia. The diagnosis and management of this enzymatic defect is very challenging.<p class="abste...

hrp0089p2-p404 | Thyroid P2 | ESPE2018

Hearing Loss Among Patients with Congenital Hypothyroidism

Almagor Tal , Nachtigal Dan , Sharoni Zohara , Elias-Assad Ghadir , Hess Ora , Havazelet Gilad , Tenenbaum-Rakover Yardena

Background: A high rate of hearing impairment has been reported in patients with congenital hypothyroidism (CH). However, this association has only been explored in a few studies with inconclusive findings.Objectives: To assess the prevalence of hearing impairment among patients with CH and determine whether hearing impairment is related to delay in supplemental therapy, etiology of CH or other parameters.Methods: Audiometry was un...

hrp0084fc2.1 | Bone &amp; Mineral Metabolism | ESPE2015

Whole Exome Sequencing Analysis of Patients with Autosomal Recessive Hypophophatemic Rickets Identified Mutations in DMP1, ENPP1 and SLC34A3

Li Dong , Tenenbaum-Rakover Yardena , Tian Lifeng , Hou Cuiping , Kim Cecilia , Hakonarson Hakon , Levine Michael

Background: Hypophosphatemic rickets (HR) is most commonly X-linked or autosomal dominant, but autosomal recessive (AR) forms have been described. ARHR1 (DMP1) and ARHR2 (ENPP1) share identical biochemical characteristics of excessive renal phosphate wasting due to increased circulating levels of the phosphatonin FGF23 and low serum levels of 1,25(OH)2D. By contrast, in hereditary hypophosphatemic rickets with hypercalciuria (HHRH) phosphaturia is ...