hrp0092hdi2.1 | How Do I Session 2 | ESPE2019

How do I…. Manage Micropenis in a Child

Bertelloni Silvano , Tyutyusheva Nina

Micropenis is defined as a penile length less than 2.5 SD below the mean value for a given age (eg, <2.5 cm at term). Nowadays, it should be also diagnosed in utero by sonography. The incidence of micropenis has been reported as 1.5/10.000 male infants in Usa, 5/1.442 in France and 18/2710 in Brazil, suggesting geographical differences or different assessment. Micropenis represents a clinical sign, that may be part of various clinical conditions, such as hypogonad...

hrp0095p1-106 | GH and IGFs | ESPE2022

Shox Deficiency in Children with Short Stature: Response To Recombinant Growth Hormone Therapy (rGH)

Valiani Margherita , Tyutyusheva Nina , Randazzo Emioli , Bertelloni Silvano , Michelucci Angela , Adelaide Caligo Maria , Peroni Diego

Background:Short stature may be due to various pathological conditions or may be idiopathic. SHOX (Short Stature Homeobox on X chromosome) gene is involved in the regulation of skeletal growth and is a main cause of short stature on monogenic basis. The frequency of this condition in children with idiopathic short stature (ISS) was reported to range from 2 to 17%. The phenotypic spectrum is heterogeneous, varying from Léri-Weill dyschondrosteosis (LWD) ...

hrp0097p1-178 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

Inhibin B- a functional marker to screen gonadal function in CAIS patients?

Viola Wagner Isabel , Tyutyusheva Nina , Bertelloni Silvano , Doehnert Ulla , Simon Frielitz Fabian , Hiort Olaf

Introduction and objective: Gonadectomy was carried out for a long time after the diagnosis of complete androgen insensitivity syndrome (CAIS). It is now recommended to leave the gonads in situ in order to guarantee endogenous hormone production. It is unclear how best to clinically monitor testicular function. The aim of the study was to investigate whether inhibin B can be used as a future follow-up parameter to screen for gonadal function in CAIS p...

hrp0095p2-272 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

A Rare HSD17B3 Gene Variant Presenting Virilization at Puberty: Management and Treatment in Adolescent Age.

Berveglieri Vittoria , Folgheraiter Valentina , Di Paola Rossana , Bertelloni Silvano , Baldinotti Fulvia , Dal Ben Sarah , Cavarzare Paolo , Antoniazzi Franco , Gaudino Rossella

Introduction: Pathogenetic mutations in the HSD17B3, located on chromosome 9q22, lead to 17β-hydroxysteroid dehydrogenase type 3 (17β-HSD3) isoenzyme deficiency, etiopathogenetic for a disorder of sex development (DSD) with 46 XY karyotype and female phenotype at birth. 17β-HSD3 isoenzyme, expressed at testicular tissue, catalyzes the synthesis of testosterone from Δ4-androstenedione, allowing the correct development of male external genit...

hrp0092p3-232 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

NR5A1 Gene Mutation: Variable Phenotypes, New Variants, Different Outcomes

Faienza Maria Felicia , Gabriela Wasniewska Malgorzata , Chiarito Mariangela , Corica Domenico , Carilo Maria Adelaide , Baldinotti Fulvia , Bertelloni Silvano

Introduction: NR5A1 (nuclear receptor subfamily 5 group A member 1) is a transcriptional regulator of adrenal and gonadal development and function. Heterozygous and homozygous NR5A1 mutations have been described in 46,XY disorders of sex development (DSD). The clinical, endocrine and genetic features of three 46,XY children from two unrelated families (A and B) with NR5A1 genetic variants are reported.P...

hrp0084p3-780 | DSD | ESPE2015

Clinical Findings, Endocrine Profile and Genetic Features of 5α-Reductase-2 Deficiency

Russo Gianni , Baldinotti Fulvia , Ghirri Paolo , Meroni Silvia , Colombo Ilaria , Moscuzza Francesca , Baroncelli Giampiero I , Sessa Maria R , Dati Eleonora , Bertelloni Silvano

Background: The 5α-reductase-2 (5R2) deficiency is a rare 46, XY disorder of sex differentiation caused by mutations in the 5R2 gene. Diagnostic and clinical management is not well definite.Aims and objectives: To describe relevant features of 5R2 deficiency in a large sample.Methods: Retrospective records of persons with 5R2 deficiency were reviewed and clinical, endocrinological, genetic data analysed....

hrp0097p1-382 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

A new GATA-4 mutation in a child with disorder of sex development and central precocious puberty

Luppino Giovanni , Corica Domenico , Valenzise Mariella , Briguglia Silvana , Bertelloni Silvano , Li Pomi Alessandra , Wasniewska Malgorzata , Aversa Tommaso , Christian Denzer , Martin Wabitsch

Background: Disorders of sex development (DSD) are often due to disruption of the genetic programs that regulate gonad development. Some genes have been identified in these developmental pathways such as DAX-1, SOX-9, GATA-4 and others. The GATA-4 gene, located on chromosome 8p23.1, encodes GATA-binding protein 4 (GATA-4), a transcription factor that is essential for cardiac and gonadal development and sexual differentiation. Congenital heart disease (CHD) and...

hrp0092p1-262 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology (1) | ESPE2019

Long-Term Outcome in Leydig Cell Hypoplasia

Boncompagni Alessandra , Bryce Jillian , Lucaccioni Laura , Iughetti Lorenzo , Acerini Carlo , Cuccaro Rieko T , Bertelloni Silvano , Hannema Sabine E , Darendeliler F Feyza , Poyrazoglu Sükran , Denzer Friederike , Batista Rafael L , Domenice Sorahia , Latronico Ana C , Mendonça Berenice B , Rey Rodolfo , Ahmed S Faisal

Background: Leydig Cell Hypoplasia (LCH) is a very rare autosomal recessive condition that is manifested by a wide spectrum of phenotypes, ranging from completely female external genitalia to male genitalia. Long-term outcome in these patients is unclear.Objectives: To assess sex assignment, clinical characteristics and long-term outcome of 46,XY LCH cases.Patients and Methods: Thr...

hrp0086p1-p356 | Gonads &amp; DSD P1 | ESPE2016

A New International Registry Highlights the Differences in Practice for Reaching a Diagnosis of CAH – On Behalf of the I-CAH/I-DSD Registry User Group

Kourime Mariam , Bryce Jillian , Jiang Jipu , Karunasena Nayananjani , Guran Tulay , Hannema Sabine Elisabeth , Cools Martine , Van Der Grinten Hedi L Claahsen , Krone Nils , Darendeliler Feyza , Balsamo Antonio , Bonfig Walter , Nordenstrom Anna , Hiort Olaf , Dagmar Lallemand , Ross Richard , Ahmed Syed Faisal , Koehler Birgit , Acerini Carlo , Mendonca Berenice B , Bertelloni Silvano , Lisa Lidka , Bonfig Walter , Elsedfy Heba , Marginean Otilia

Background: Following the 2010 CAH consensus, the need for genetic confirmation of diagnosis remains uncertain and variation in practice is unclear.Methods: This variation was assessed by using the International CAH(I-CAH) Registry which was developed using the same platform as the I-DSD Registry.Results: After the development of the I-CAH Registry in October 2014, the rate of addition of CAH cases increased from 2/month to 14/mont...

hrp0084p1-58 | DSD | ESPE2015

Long-term Endocrine Outcome in Men with Partial Androgen Insensitivity Syndrome

Lucas-Herald Angela K , Ahmed S Faisal , Bertelloni Silvano , Juul Anders , Bryce Jillian , Jiang Jipu , Rodie Martina , Johansen Marie L , Hiort Olaf , Holterhus Paul-Martin , Cools Martine , Desloovere An , Weintrob Naomi , Hannema Sabine E , Guran Tulay , Darendeliler Feyzad , Nordenstrom Anna , Hughes Ieuan

Background: Partial Androgen insensitivity syndrome (PAIS) is a rare condition which is associated with a variable phenotype. To date, there are limited data reporting long-term endocrine outcome for this condition.Aims: To determine the outcomes and clinical characteristics for 46, XY males with PAIS, using information from the International DSD (I-DSD) Registry and its clinical users.Methods: The I-DSD Registry and its users were...