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

hrp0082p2-d1-564 | Sex Development | ESPE2014

46,XY Neonates and Infants with Ambiguous Genitalia: Who to Investigate?

Baetens Dorien , Mladenov Wilhelm , Chiaie Barbara Delle , Desloovere An , Iotova Violeta , Menten Bjorn , Van Laecke Eric , Hoebeke Piet , De Baere Elfride , Cools Martine

Background: Extensive and time-consuming hormonal and genetic work-up provides a genetic diagnosis in around 20% of 46,XY cases with ambiguous genitalia. It is currently unclear if such extensive screening might also be indicated in 46,XY newborns with milder undervirilization.Method: All 46,XY neonates and infants (n=32, EMS 2–12) referred to our pediatric endocrine service for atypical male genitalia in the period 2007–2013 were inve...

hrp0082p2-d1-565 | Sex Development | ESPE2014

Novel NR5A1 Gene Mutations Associated with 46,XY Disorders of Sex Development

Fabbri Helena , de Andrade Juliana Gabriel Ribeiro , Maciel-Guerra Andrea Trevas , Guerra-Junior Gil , de Mello Maricilda Palandi

Background: Disorders of sex development (DSD) characterize incomplete or disorganized genital or gonadal development. One in 4500 births requires genetic and endocrine studies due to abnormal external genitalia or gonadal dysgenesis and only 50% of the cases receive a definitive diagnosis. There are several genes that participate in both sex determination and differentiation processes. Mutations in NR5A1 gene, which encoding SF1, a transcription factor, are responsib...

hrp0082p2-d1-566 | Sex Development | ESPE2014

The Research About sf1 Gene Abnormality in 45 Children with Micropenis

Li Pin , Gong Yan , Zhuzhi Ying

Background: Micropenis are the most common signs of incomplete masculinisation, but do not receive enough attention. The etiology is very complex, including endocrine factors, genetic factors and environmental endocrine disruptors.Objective and hypotheses: To explore 45 cases of micropenis children steroidogenesis factor 1 genetic abnormalities and to research the influence of the mutation on sex gland function.Method: 45 micropeni...

hrp0082p2-d1-567 | Sex Development | ESPE2014

A New Mutation of MAMLD1 (CXorf6) Associated with NR5A1 (SF1) Variant in a Patient with 46,XY DSD

Ladjouze Asmahane , Philibert Pascal , Ouarezki Yasmine , Djermane Adel , Kedji Leila , Maoudj Abdeljalil , Berkouk Karima , Sultan Charles , Laraba Abdenour

Background: The investigation of patients with 46,XY DSD is often difficult, with no definitive diagnosis in more than 50% of cases investigated. We describe a new mutation of MAMLD1 in a patient with 46,XY DSD who also showed an alteration in the NR5A1 gene.Case report: A 5-year-old boy was referred to our clinic for DSD. He was born to non-consanguineous parents and was diagnosed with ambiguous genitalia at birth but had not been previously investigate...

hrp0082p2-d1-568 | Sex Development | ESPE2014

46XY, DSD due to 5α-Reductase Type 2 Deficiency in 19 Chinese Patients

Li Yan-Hong , Du Min-Lian , Ma Hua-Mei , Chen Hong-Shan , Chen Qiu-Li

Background: Patients with 46,XY, DSD are characterized by ambiguous or female external genitalia, caused by incomplete intrauterine masculinization. 5α-reductase type 2 deficiency due to SRD5A2 gene mutations result in inadequate conversion from testosterone to dihydrotestosterone (DHT), and is responsible for incomplete virilization in male patients. Up to date, more than 50 mutations have been reported, however, clinical features are variable and heterogeneous.<p cl...

hrp0082p2-d1-569 | Sex Development | ESPE2014

Experience of Feminizing Operations in Cases of Incomplete Sexual Development of Girls

Shybeka Alena , Milkhno Hanna , Druzhynin Herman , Dubrov Vitali , Solntsava Anzhalika , Skobejus Izaokas

Background: Surgical correction of the external genitalia of girls with incomplete sexual development remains an urgent problem reconstructive urology. It is connected with a relative rare pathology, the need to achieve a good cosmetic and functional result.Objective and hypotheses: In this paper, we present our approach and experience in the surgical treatment of girls born with congenital malformations of sexual organs.Method: Be...

hrp0082p2-d1-570 | Sex Development | ESPE2014

Four Cases of Isolated Partial Gonadal Dysgenesis due to NR0B1 (DAX1) Locus Duplication Inherited in a Large Family

Wagner Mahler Kathy , Devos Caroline , Kurzenne Jean Yves , Gastaud Frederique , Hoflack Marie , Mallet Delphine , Karmous Benailly Houda , Giuliano Fabienne , Simonin Gilbert , Sanlaville Damien , Morel Yves

Background: Isolated gonadal dysgenesis due to NR0B1 locus duplication is a rare cause of 46,XY DSD. Almost reported cases were a total gonadal dysgenesis with complete female phenotype and streak gonad diagnosed late because of absent of pubertal development and primary amenorrhea. Only two unrelated cases of isolated partial gonadal dysgenesis with molecular characterization have been reported. The risk of gonadoblastoma is high.Family case reports: Al...

hrp0082p2-d1-571 | Sex Development | ESPE2014

Identification of a Missense MAP3K1 Mutation in a Patient with Hypospadias

Igarashi Maki , Horikawa Reiko , Nakabayashi Kazuhiko , Hata Kenichirou , Ogata Tsutomu , Fukami Maki

Background: Recently, eight MAP3K1 mutations have been identified in patients with 46,XY disorder of sex development (DSD), although detailed clinical findings of the mutation-positive patients remain to be investigated.Objective and hypotheses: To clarify the frequency and clinical consequences of MAP3K1 mutations.Method: Mutation screening of MAP3K1 were performed for 37 patients with 46,XY DSD. Phenoty...

hrp0082p2-d1-572 | Sex Development | ESPE2014

Anogenital Distance, Penis Growth, and Masculine Behaviour Evidence for Independent Neurobehavioral Effects of Foetal Versus Postnatal Androgen Exposure in Boys

Pasterski Vickie , Acerini Carlo , Dunger David , Ong Ken , Hughes Ieuan , Thankamony Ajay , Hines Melissa

Background: Associations between foetal androgen deficiency and variations in anogenital distance (AGD) suggest that AGD is a reliable indicator of foetal androgen exposure. Similarly, variation in postnatal penis growth associated with variations in testosterone show penis growth to be a potential biomarker of early postnatal androgen exposure. Though variation in early androgen exposure is also hypothesized to underlie neurobehavioral masculinisation, until now, no reports h...

hrp0082p2-d1-573 | Sex Development | ESPE2014

Mutation Analysis of kdm3a (Lysine-Specific Demethylase 3a) in Patients with Hypospadias

Kon Masafumi , Igarashi Maki , Izumi Yoko , Kato-Fukui Yuko , Mizuno Kentaro , Hayashi Yutaro , Kohri Kenjiro , Kojima Yoshiyuki , Nonomura Katsuya , Ogata Tsutomu , Fukami Maki

Background: Hypospadias is a relatively common form of 46,XY disorders of sex development. Although several genes have been implicated in the development of hypospadias, molecular basis of the majority of cases remain unknown. Recently, targeted disruption of lysine-specific demethylase 3A (KDM3A) were shown to cause defective sex development in male mice.Objective and hypotheses: The aim of this study was to clarify whether KDM3A mutations underlie hypo...