hrp0082p2-d2-574 | Sex Development (1) | ESPE2014

Analysis of Steroid 5-Alpha Reductase 2 (SRD5A2) Gene in Patients with 46,XY Disorder of Sex Development

de Souza Giselle Neres , Machado Aline Zamboni , Prado Arnhold Ivo Jorge , Mendonca Berenice , Palma Sircili Maria Helena , Nishi Mirian Yumie , Barbosa Silva Rosana , Frade Costa Elaine Maria , Domenice Sorahia

Background: The diagnosis of 46,XY disorder of sex development (DSD) due to 5-alpha reductase 2 (5α-RD2) deficiency has been based on testosterone:dihydrotestosterone (T:DHT) ratio, urinary steroid profiling and mutational analysis of SRD5A2 gene. The biochemical hallmarks of 5α-RD2 deficiency include increased T:DHT ratio. However, several difficulties are observed in the DHT measurement leading to misdiagnosis. The mutational analysis of the SRD5A2 has been propose...

hrp0084lbp-1268 | Late Breaking Posters | ESPE2015

Genetic Causes of Disproportional Short Stature Identified by Whole Exome Sequencing

Funari Mariana F A , Vasques Gabriela A , Lerario Antonio M , Freire Bruna L , Nishi Mirian Y , Franca Monica M , Shinjo Sueli M O , Marie Suely K N , Arnhold Ivo J P , Jorge Alexander A L

Background: Disproportional short stature (DSS) is the most frequent clinical presentation of skeletal dysplasias, which are a heterogeneous group of more than 450 disorders of bone. Skeletal survey is important to establish the diagnosis and to guide the genetic test, but has several limitations, especially in mild and atypical cases.Objective and hypotheses: To identify the genetic aetiology of DSS by exome sequencing.Method: Who...

hrp0097p1-184 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

Retrospective Analysis of Individuals with Differences in Sex Development (DSD) in a Brazilian Single-Center Study Across the Lifespan

Batista Rafael , Gomes Nathalia , Bachega Tania , Madureira Guiomar , Miranda Mirela , Dallago Renata , Teresa Ferrari Maria , Lousada Lia , Craveiro Flora , Batatinha Julio , Scalco Renata , Jorge Alexander , Costa Elaine , Helena Sircili Maria , Denes Francisco , Inacio Marlene , Nishi Mirian , Domenice Sorahia , Mendonca Berenice

Context: Differences in sex development (DSD) represent a broad spectrum of conditions that can present at different ages to various healthcare professionals with different backgrounds.Design: This is a retrospective, observational cohort that includes all DSD subjects referred to a multi-professional DSD team over a period of 41 years (from 1980 to 2021).Participants: A total of 6...

hrp0095p2-76 | Diabetes and Insulin | ESPE2022

Fibroblast growth factor 23 in relation to calcium-phosphate metabolism and cardiovascular risk factors in patients with type 1 diabetes.

Vermeulen Stephanie , E.A. Scheffer-Rath Mirjam , T.P. Besouw Martine , van der Vaart Amarens , H. de Borst Martin , M. Boot Annemieke

Introduction: Cardiovascular disease (CVD) is the major cause of morbidity and mortality in type 1 diabetes (T1D). Recent studies implicated deregulated phosphate homeostasis in the etiology of CVD. The objective of this study is to address the relationship between the phosphate-regulating hormone fibroblast growth factor 23 (FGF23) and cardiovascular risk factors in adults with and without type 1 diabetes (T1D).Methods:...

hrp0082p1-d3-97 | Sex Development | ESPE2014

46, XX Ovotesticular Disorder of Sex Development: Potential Role of 13q31.1

Girardin Celine M , Dirlewanger Mirjam , Bena Frederique , Nef Serge , Rougemont Anne-Laure , Birraux Jacques , Schwitzgebel Valerie M

Background: The origins of 46,XX ovotesticular DSD remains unclear in the majority of the cases. New genetic tools can help identifying genes and loci involved in gonadal development and differentiation.Objective and hypotheses: We report the results of the genetic investigations performed in a 15 years old African adolescent with SRY-negative 46,XX ovotesticular DSD.Method: Clinical evaluation, imaging studies, surgical exploratio...

hrp0089rfc12.4 | Diabetes and Insulin 2 | ESPE2018

Use of Telemonitoring Via a Mobile Device App Reduces HbA1c in Type 1 Diabetic Children and Adolescents

Klee Philippe , Bussien Catherine , Castellsague Montserrat , Combescure Christophe , Dirlewanger Mirjam , Girardin Celine , Mando Jean-Luc , Perrenoud Luz , Salomon Carole , Schneider Franck , Schwitzgebel Valerie

Background and Aims: Type 1 diabetes mellitus (T1DM) belongs to the most common chronic diseases affecting children and adolescents. Technological advances have improved metabolic control over the past decades, thereby decreasing the risk of long-term complications. However, only a minority of patients meets the treatment goals of maintaining a glycated hemoglobin (HbA1c) level below 7.5% (58 mmol/mol). Webdia is an application for mobile devices developed by the fath...

hrp0086rfc9.4 | Pathophysiology of Disorders of Insulin Secretion | ESPE2016

Prevalence of Monogenic Diabetes in the Lithuanian Pediatric and Young Adult Population

Schwitzgebel Valerie , Dirlewanger Mirjam , Klee Philippe , Santoni Federico , Blouin Jean-Louis , Razanskaite-Virbickiene Dovile , Danyte Evalda , Dobrovolskiene Rimante , Marciulionyte Dalia , Stankute Ingrida , Verkauskiene Rasa

Background: Monogenic diabetes is a heterogeneous group of metabolic disorders resulting from defects in single genes. Over 90% of the subjects remain undiagnosed, mainly because of lack of access to genetic testing.Objective and hypotheses: The aim of our study was to do a comprehensive genetic analysis of the whole pediatric and young adult autoimmune antibody negative diabetes population of Lithuania.Method: 860 children (age 0&...

hrp0082fc9.6 | Beta cells | ESPE2014

Sulfonylurea Therapy Corrects Hypotonia, Attention Deficits, Improves Complex Neuropsychological Functions and Motricity in Patients with Neonatal Diabetes Secondary to Mutation in Potassium Channel Subunits, Through a CNS Effect

Beltrand Jacques , Vaivre-Douvret Laurence , Busiah Kanetee , Fournier Emmanuel , Boddaert Nathalie , Vera Myriam , Bahi-Buisson Nadia , Bui-Quoc Emmanuel , Ingster-Moati Isabelle , Flechtner Isabelle , Simon Albane , Scharfmann Raphael , Cave Helene , Elie Caroline , Polak Michel

Background: Sulfonylurea therapy (SU) allows a better metabolic control than insulin in patients with neonatal diabetes secondary to mutation in potassium channel subunits (ND-K). Most of these patients have neurological and neuromotor developmental impairments whose changes under SU has not been studied in a systematic and prospective way in a large cohort.Objective and Hypotheses: To demonstrate the beneficial effect of SU on neuropsychological functio...

hrp0092p1-135 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

Combining Clinical and Genetic Approaches in Diagnosing a Large Brazilian Cohort of Patients with 46,XY Differences of Sex Development (DSD)

Gomes Nathalia Lisboa , Batista Rafael Loch , Nishi Mirian Y , Marcondes Antonio , Silva Tatiane E. , Funari Mariana , Faria Júnior José Antônio Diniz , Silva Daniela Moraes , Montenegro Luciana , Frade Costa Elaine Maria , Jorge Alexander Augusto , Domenice Sorahia , Mendonca Berenice Bilharinho

Background: Most published studies on 46,XY DSD focused on genetic findings without association with biochemical work-up.Objectives: To retrospectively analyze the clinical and genetic findings of a large cohort of 46,XY DSD patients.Methods: 285 non-syndromic 46,XY DSD individuals (192 sporadic and 89 familial cases) were studied. LH, FSH, testosterone (T), androstenedione (A) wer...

hrp0089fc8.5 | Sex differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2018

DEAH-Box Helicase 37defects (DXH37) Deffects are a Novel Cause of 46,XY Gonadal Dysgenesis

Gomes Nathalia , Silva Thatiana , Lerario Antonio , Batista Rafael Loch , Junior Jose Antonio Faria , Moraes Daniela , Costa Elaine Maria Frade , Nishi Mirian , Carvalho Luciani Renata , Forclaz Maria Veronica , Papazian Regina , Martinez-Aguayo Alejandro , de Paula Leila Pedroso , Carvalho Filomena Marino , Vilain Erick , Barseghyan Hayk Barseghyan , Keegan Catherine , Domenice Sorahia , Mendonca Berenice Bilharinho

Background: 46,XY gonadal dysgenesis (GD) is a spectrum disorder which lead to variable degrees of atypical external genitalia, ranging from female to micropenis and absent of gonadal tissue (known as Embryonic Testicular Regression Syndrome -ETRS). Most patients with 46,XY GD remains without a molecular diagnosis.Objective: To report the DEAH-box helicase 37 gene (DHX37) as a novel candidate for the GD etiology.Patients a...