hrp0084p3-1088 | Perinatal | ESPE2015

Leptin and Neuropeptide Y Levels in Newborns

Kaya Avni , Orbak Zerrin , Polat Ismail , Polat Harun , Gumusdere Musa

Background: Several studies have investigated leptin and NPY levels in children, but the information for newborns in the literature is limited.Objective and hypotheses: The aim of this study was to determine leptin and neuropeptide Y (NPY) levels in between 14 and 28-days newborns.Method: This prospective study was performed in the Erzurum Atatürk University Medical Faculty Research Hospital Neonatal Clinic, Turkey, between Ju...

hrp0082p1-d1-202 | Reproduction | ESPE2014

Genetic Markers in the Study of Chromosome Y in the Population of Girls with Turner Syndrome

Rojek Aleksandra , Obara-Moszynska Monika , Rabska-Pietrzak Barbara , Kolesinska Zofia , Niedziela Marek

Background: Turner syndrome (TS) is one of the most common chromosomal aberrations resulting from the total or partial absence of one of the X chromosomes in all or a portion of cells. The presence of genetic material of the Y chromosome in TS patients is a risk factor for the development of gonadoblastoma or dysgerminoma.Objective and hypotheses: The aim of this study was to detect the presence of fragments of the Y chromosome, which increase the risk o...

hrp0084p3-797 | DSD | ESPE2015

Screening for Y Microdeletions in Patients with Hypergonadotropic Hypogonadism due to Disorder of Sexual Development

Karaoglan Murat , Keskin Mehmet , Keskin Ozlem

Introduction: Hypergonadotropic hypogonadism is mainly characterised by streak or dysgenetic gonads. It is primer gonadal insufficiency which occurs as a result of chromosome abnormalities, gonad developmental and steroid synthesis defects. However, Y microdeletions associated hypergonadotropic hypogonadism due to disorder of sexual development has been reported, there are no many studies. Moreover, it is not known enough to contribution for development of sexual ambiquity. Ai...

hrp0089p3-p321 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P3 | ESPE2018

Gonadal Tumor Incidence in Patients with Disorders of Sex Development Containing Y Chromosome or Y-derived Sequences – Experience from One Clinical Center

Gawlik Aneta , Antosz Aleksandra , Drosdzol-Cop Agnieszka , Kudela Grzegorz , Koszutski Tomasz , Małecka-Tendera Ewa

Background: Risk of developing germ cell tumors (GCTs) in disorders of sex development (DSD) patients with karyotypes contain Y-chromosome or it’s material (Y) increase with age. The appropriate timing for prophylactic gonadectomy in these patients is still controversial.Aim: To analyze the gonadal tumor incidence and histological assessment of gonads in DSD (Y) patients who were treated in a single institution between 1997 and 03/2018.<p class=...

hrp0089p3-p249 | Growth &amp; Syndromes P3 | ESPE2018

A Rare Case of Turner Syndrome with the Presence of the Y Chromosome Genetic Material

Peskavaya Nadzeya , Solntsava Anzhalika , Shlimakova Katsyaryna

Turner syndrome (TS) is the most common genetic disease associated with the X-chromosome abnormality. Sex chromosome monosomy (45,X) occurs in 40–50% of the cases. 5% of patients with TS, in addition to cells lacking the genetic material of the X-chromosome, have a cell line with Y-chromosome, whether complete or not, which can be clinically manifested by virilization and mixed gonadal dysgenesis. Early identification of the Y-chromosome genetic material in patients with...

hrp0086p2-p850 | Syndromes: Mechanisms and Management P2 | ESPE2016

An Unusual Cause of Short Stature in a Phenotypic Male with Type I Diabetes Mellitus due to an Unexpected Deletion of the Y Chromosome

Giri Dinesh , Ghatak Atrayee , Landes Caren , Ramakrishnan Renuka

Background: Short stature homeobox (SHOX) gene, located on the pseudoautosomal region of the sex chromosome plays an important role in the development of skeleton and its mutations/deletions can cause skeletal dysplasias.Objective and hypotheses: We report a male, with Type I Diabetes (T1DM) with Y chromosome deletion and short stature due to the concurrent loss of SHOX.Method: A 15-year-old boy with T1DM for 6 years was referred f...

hrp0082p2-d3-617 | Turner Syndrome | ESPE2014

Early Occurrence of Gonadoblastoma Found at Elective Gonadectomy in Turner Syndrome Mosaic for Y Chromosome

MacMahon J , Morrissey R , McDermott M , O'Sullivan M , Quinn F , Green A , Lynch S A , O'Connell S M

Background: Turner syndrome (TS) is one of the most common genetic disorders in females and occurs in phenotypic females who are missing all or part of one sex chromosome. While the most common mosaic forms of the disorder are 45,X/46,XX and 45,X/46,Xiq, mosaicism for cells containing Y chromosome material is well documented.Objective and hypotheses: Owing to increased risk of gonadoblastoma (GB), current recommendations are for elective gonadectomy foll...

hrp0082p3-d1-953 | Sex Development | ESPE2014

The Development of Gonadoblastoma in a 3-Year-Old Girl with 46,Xdel(Y)p11.3, Gonadal Dysgenesis and Associated Congenital Anomalies

Kolesinska Zofia , Rojek Aleksandra , Kedzia Helena , Blaszczynski Michal , Latos-Bielenska Anna , Kapczuk Karina , Niedziela Marek

Background: One of the crucial aspects of the management of disorders of sex development is the assessment of the risk of malignant transformation of a dysgenetic gonad.Objective and hypotheses: The PCR analysis of germ-cell risk factors as the presence of the TSPY gene may be helpful in decision making of an early gonadectomy.Results: We report a 46,Xdel(Y)p11.3 girl with gonadal dysgenesis, that was referred to the Depar...

hrp0092p1-281 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology (1) | ESPE2019

Virilization of a Girl at Puberty Due to a Unique Translocation of an Abnormal Duplicated Y-Chromosome to a Deleted Chromosome 9 Including the DMRT1 Gene

Graf Stefanie , Aliu Nijas , Zeino Mazen , Flueck Christa E.

Background: Virilization at puberty in girls remains a challenge. Several differential diagnoses must be considered including disorders of sex development (DSD) and tumors.Case Report: We report an 11.5-year-old girl who was referred to our center for progressive cliteromegaly since 6 months. Past medical history was remarkable for prematurity of 36 weeks gestation and for mild ongoing psychomotor delay. At presentation ...

hrp0089rfc8.1 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2018

Male Fertility Genes Located in Y-Chromosomal Regions Display Differential mRNA Profiles in Response to GnRH Treatment of Cryptorchidism-Dependent Infertility

Hadziselimovic Faruk , Gegenschatz-Schmid Katharina , Verkauskas Gilvidas , Stadler Michael

Background: Undescended testes in patients with defective mini-puberty contain germ cells that fail to differentiate normally into Ad spermatogonia and ultimately leads to infertility. Six months treatment with the gonadotropin-releasing hormone GnRH increases luteinizing hormone and testosterone secretion and rescues fertility in the majority of pathological cryptorchid testes. Several Y chromosomal genes in the male-specific Y region (MSY) are essential for spermatogenesis, ...