hrp0082p3-d1-633 | Adrenals & HP Axis | ESPE2014

Steroid 11β Hydroxylase Deficiency in Egyptian Children

Musa Noha , Ghali Isis , Farag Sara , Amin Maha , Hafez Mona

Background: Congenital adrenal hyperplasia (CAH) is one of the most common inherited endocrinal disorders. Steroid 11β hydroxylase deficiency (11βOHD) is the 2nd most common form of CAH. It is a rare AR disorder caused by CYP11B1 mutations with an incidence of 100 000–200 000 in overall population.Objective and hypotheses: To detect 11β hydroxylase deficiency in patients presenting with clinical manifestations and hormonal findings su...

hrp0084p1-62 | DSD | ESPE2015

Prediction of Germ Cell Cancer Occurrence in Postpubertal Individuals with Androgen Insensitivity Based on Pathological Findings and Cancer Predisposition SNPs

Cools Martine , Wolffenbuttel Katja P , Kaprova Jana , Mendonca Berenice B , Drop Sten LS , Hersmus Remko , Stoop Hans , Gillis Ad JM , Costa Elaine MF , Domenice Soraiah , Wunsch Lutsz , Quigley Charmian , Arlt Wiebke , T'Sjoen Guy , Looijenga Leendert HJ

Background: Gonadectomy is generally postponed until early adulthood in complete androgen insensitivity syndrome (CAIS) and close surveillance of gonads in situ proposed in males with partial AIS (PAIS). Delaying gonadectomy further is controversial given the lack of data regarding germ cell cancer (GCC) development in adulthood and the absence of biomarkers for noninvasive GCC screening.Aims and objectives: To study the prevalence of invasive G...

hrp0084p2-317 | DSD | ESPE2015

Next-Generation Sequencing as a Rapid Molecular Diagnosis in Patients with 46,XY Disorder of Sex Development

Ozen Samim , Onay Huseyin , Atik Tahir , Solmaz Asli Ece , Goksen Damla , Ozkinay Ferda , Darcan Sukran

Background: 46,XY DSD occurs as a result of testicular developmental disorders, defect in androgen synthesis or action. Nowadays, the diagnosis of DSD is quite costly and it takes a considerable amount of time due to lengthy hormonal and genetic analysis.Objective and hypotheses: The use of targeted next-generation sequencing of all known genes associated with 46 XY DSD for a fast molecular genetic diagnosis in patients in whom underlying defect of DSD w...

hrp0084p3-801 | DSD | ESPE2015

Pseudo-Precocious Puberty in Androgen Insensitivity Syndrome Secondary to a Prepubertal Oestrogen Producing Sertoli Cell Tumour

Warman Diana Monica , Berensztein Esperanza , Marino Roxana , Ramirez Pablo , Costanzo Mariana , Maceiras Mercedes , Rivarola Marco A , Belgorosky Alicia

Background: Androgen insensitivity syndrome (AIS) is an X-linked hereditary disease with AR gene loss-of-function mutations in 46,XY patients. They undergoes poor development of secondary sex characteristics, except for breast development at puberty. AIS patients are prone to develop germ cell cancer, even though with lower incidence than in dysgenetic gonads secondary to defects in organogenesis.Case presentation: We described a 3-years-old gir...

hrp0084p3-804 | DSD | ESPE2015

A Practical and Integrative Approach to Differential Diagnosis between 46,XY Disorder of Sexual Development

Karaoglan Murat , Keskin Mehmet , Ozkur Ayhan , Keskin Ozlem

Introduction: 46,XY disorder of sexual development can cause clinical spectrum varying from complete female phenotype to isolated micropenis. However, the most common reasons are androgen synthesis and resistance, choromosome abnormalities, testicular dysgenesis, steroid synthesis defects, it is usually idiopathic. The accurate and differential diagnosis is crucial in respect of treatment, monitoring, sex determination, surgical correction. Moreover, it sometimes can be medica...

hrp0097rfc14.5 | Late Breaking | ESPE2023

Functional demonstration that variants in the C-terminal of IHH cause short stature and/brachdactyly

Diaz-González Francisca , Modamio-Høybjør Silvia , Lucas-Castro Elsa , Coral Barreda-Bonis Ana , Campos-Barros Angel , González-Casado Isabel , Sentchordi-Montané Lucia , E. Heath Karen

Introduction: Variants in the N-terminal of the Indian-hedgehog gene (IHH) have been associated with Brachydactyly type-A1 (AD) and Acrocapitofemoral dysplasia (AR), only three of which have been functionally studied. However, heterozygous IHH variants, majority classified as variants of unknown significance (VUS) are being increasingly identified, not only in the N-terminal but also in the uncharacterized C-terminal, by NGS, in individuals with short...

hrp0097p2-238 | Diabetes and Insulin | ESPE2023

CGK Gene nucleotide variant of uncertain clinical significance (Exon 4/10. c397G>A. p.Asp133Asn) in a pediatric patient with hyperglycemia, elevated HgA1c and negative anti-islet cell antibodies

Minutti Carla , Mora Guido

Maturity onset diabetes of the young (MODY) is a group of inherited disorders with a varying degree of severity, caused by variants in one of several genes (most common genes are: HNF1A, CGK, HNF4A, HNF1B), The majority of cases have impaired insulin secretion. Patients tend to present with hyperglycemia prior to age 25 years, but can present later in life. There is usually family history of diabetes. MODY accounts for 1-3% of all cases of diabetes. The GCK gene has been assoc...

hrp0098p2-230 | Pituitary, Neuroendocrinology and Puberty | ESPE2024

Advancing Endocrine Disorder Diagnosis in Cyprus: The Cyprus Institute of Neurology and Genetics as an ENDO-ERN Reference Center

Neocleous Vassos , Fanis Pavlos , Toumba Meropi , Skordis Nicos , A Phylactou Leonidas

This report provides an overview of the Molecular Genetics-Function and Therapy (MGFT) department's present and past activities at the Cyprus Institute of Neurology and Genetics (CING), serving as an affiliated Reference Center (RC) for the European Reference Network on Rare Endocrine Conditions (Endo-ERN). Over a period of more than 15 years, the MGFT department has collaborated extensively with endocrine specialists from local government hospitals and the private sector...

hrp0092rfc10.3 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

Level of Uncertainty in Diagnostic Evaluation of Boys With XY Disorders of Sex Development (DSD)

Alimussina Malika , Diver Louise A , McNeilly Jane D , Lucas-Herald Angela K , Tobias Edward S , McMillan Martin , McGowan Ruth , Ahmed S Faisal

Introduction: The degree of consistency between the findings from next generation sequencing (NGS) and detailed endocrine assessment is unclear in boys with XY DSD.Objectives: Examine the range of endocrine and molecular genetic variation in boys undergoing evaluation for XYDSD.Methods: Boys with XYDSD who were evaluated in Glasgow from 2016 to 2018 were included. Sequence variants...

hrp0092p1-129 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

Molecular Diagnosis of Patients with 46,XY Differences in Sex Development in A Single Tertiary Center

Touzon Maria Sol , garrido Natalia Perez , Ramirez Pablo , Marino Roxana , Berensztein Esperanza , Costanzo Mariana , Guercio Gabriela , Rivarola Marco Aurelio , Belgorosky Alicia

Disorders/differences in sex development (DSD) are defined as congenital conditions in which development of chromosomal, gonadal or anatomical sex is atypical. 46,XY DSD include defects in androgen synthesis or action or complete (CGD)/partial (PGD) gonadal dysgenesis. The aim of this study was to characterize the molecular genetic diagnosis of individuals with 46,XY DSD followed at Garrahan Pediatric Hospital.Medical records of 140 patients (P) followed...