Volume 82 | ESPE2014 | Next issue

ESPE 2014

Dublin, Ireland
18 Sep 2014 - 20 Sep 2014

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Dublin, Ireland; 18-20 September 2014. Further information

Poster Category 2

Sex Development (1)

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...

hrp0082p2-d2-575 | Sex Development (1) | ESPE2014

AMH Levels in Pediatric Girls with Chronic Disease

Grimbly Chelsey , Prosser Connie

Background: Anti-Mullerian Hormone (AMH) is becoming a useful marker for ovarian function and prospective fertility. It is known to reflect ovarian reserve and response to ovarian stimulation in aided reproductive protocols. Levels are decreased in adults with chronic medical conditions such as Crohn’s disease and Turner’s Syndrome and in survivors of childhood cancers. AMH levels are increased in polyscystic ovarian syndrome as a reflection of increased numbers of a...

hrp0082p2-d2-576 | Sex Development (1) | ESPE2014

The Utility of AMH for Predicting Testosterone Response to hCG Stimulation in Children with Suspected DSD

Kyriakou Andreas , McNeilly Jane D , Shaikh Guftar M , Mason Avril , Shapiro David , Ahmed Syed Faisal

Background: In children undergoing investigation of testicular function the relationship between serum anti-Mullerian hormone (AMH) and the testosterone response to hCG stimulation test (HST) is unclear.Method: 75 children (3F, 72M) with a median age of 1.08 years (range, 0.003, 14.3) were investigated for suspected DSD by AMH on D1 and testosterone on D1 and D4, before and after 3-day HST. Of these children, 27 had an additional prolonged HST. Normal te...

hrp0082p2-d2-577 | Sex Development (1) | ESPE2014

A Novel Cyp19a1 Gene Mutation Identified in Three Turkish Families

Akcurin Sema , Durmaz Erdem , Kim Woo-Young , Turkkahraman Doga , Shin Joe-Gook , Lee Su-Jun

The CYP19A1 gene product cP450aromatase enzyme is responsible for estrogen synthesis and androgen/estrogen equilibrium in many tissues; placenta and gonads are being the leading tissues. cP450aromatase deficiency has important effects on clinical phenotype due to excessive amount of androgen accumulation and insufficient estrogen synthesis in the pre- and postnatal periods. We identified a new point mutation in the CYP19A1 gene causing aromatase deficiency in three Turkish fam...

hrp0082p2-d2-578 | Sex Development (1) | ESPE2014

46,XX Ovotesticular DSD: Is it Lawful to Wait for Gonadal Surgery?

Bouvattier Claire , Cuny Ariane , Beaudoin Sylvie , Bargy Frederic

Background: Ovotesticular disorder of sex development (DSD) is characterized by the presence of both testicular and ovarian tissue in the gonads of an individual. Selective gonadal surgery is usually performed in infancy.Objective and hypotheses: Little is known about the long-term outcome of conservative gonadal surgery in ovotesticular DSD. We present our experience in a 46,XX girl diagnosed in the neonatal period.Method: The pat...

hrp0082p2-d2-579 | Sex Development (1) | ESPE2014

Mosaicism: Study of Nine Patients

Mazzanti Laura , Baronio Federico , Ortolano Rita , Scarano Emanuela , Tamburrino Federica , Colangiulo Angela , Bettocchi Ilaria , Cassio Alessandra , Balsamo Antonio

Background: The isodicentric Y (idic Y) is one of the most common aberrations of the Y chromosome. Most patients (pts) are chromosomal mosaics, including 45,X cell line.Objective and hypotheses: Our aim is to describe clinical and molecular features of our 45,X/46,Xidic(Y) cases.Method: We retrospectively evaluate the clinical description of nine cases (six females, one male, two with ambiguous genitalia) with mosaic karyotype 45,X...

hrp0082p2-d2-580 | Sex Development (1) | ESPE2014

The V89L Polymorphism in the SRD5A2 Gene in Cases with Undescended Testis

Yesilada Elif , Akinci Aysehan , Gulbay Gonca , Yuksel Sengul , Savaci Serap

Background: Steroid 5α-reductase catalyzes the conversion of testosterone into the more active androgen, dihydrotestosterone (DHT). In 46, XY patients with recessive mutations in steroid 5α-reductase type 2 enzyme (SRD5A2) gene, the degree of ambiguity ranges from isolated hypospadias to severe undermasculinization. SRD5A2 gene is located on chromosome 2 (p23 region) and is comprised of five exons and four introns.Objective and hypotheses: Mult...

hrp0082p2-d2-581 | Sex Development (1) | ESPE2014

Rare Disease Registries: Perception of Parents and Young People

Jayasena Arundathi , Muscarella Miriam , Ahmed Faisal

Background: Rare-disease registries are considered to be the key for improving patient care through research and audit. In the field of paediatric endocrinology, the views of parents and affected young people about such registries are unclear.Objective: To conduct a survey to understand the views of parents and young people with rare conditions.Method: A structured questionnaire was completed by two groups of clinic attendees, thos...

hrp0082p2-d2-582 | Sex Development (1) | ESPE2014

Down Syndrome and Disorders of Sex Development: Only Coincidence or More?

Pupo Joyce , dos Santos Tiago Jeronimo , Steinmetz Leandra , Cominato Louise , Manna Thais Della , Filho Hamilton Menezes , Kuperman Hilton , Dichtchekenian Vae , Setian Nuvarte , Damiani Durval

Introduction: Down syndrome (DS) is a common condition and its association with disorders of sex development (DSD) is quite rare.Case report: We report four DS patients with DSD. Patient 1: 22 days old, undefined sex. 2.5 cm phallus, non-palpable gonads, and perineal urethra. Testosterone=332 ng/dl (at 1 mo), uterus on ultrasound, 47,XY +21 karyotype. A gonadoblastoma on the left gonad and a streak on the right. Dx – DSD Mixed Gonadal Dysgenesis. Pa...

hrp0082p2-d2-583 | Sex Development (1) | ESPE2014

Novel Mutation in a Newborn with a Rare Cause of 46,XY Sex Reversal: 17β- Hydroxysteroid Dehydrogenase Type 3 Deficiency

Demir Korcan , Yildiz Melek , Elmas Ozlem Nalbantoglu , Korkmaz Huseyin Anil , Ozkan Behzat

Background: 17β-Hydroxysteroid dehydrogenase type 3 (17β-HSD3) deficiency is a rare cause of 46,XY sex reversal due to a defect in conversion of androstenedione to testosterone. It is autosomal recessively inherited and caused by mutations in 17HSD3.Objective and hypotheses: To define clinical and laboratory characteristics of 17β-HSD3 deficiency during neonatal period.Method: An 8-day-old newborn with female externa...