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57th Annual ESPE

Athens, Greece
27 Sep 2018 - 29 Sep 2018

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ESPE 2018 57th European Society for Paediatric Endocrinology Annual Meeting 27-29 September 2018 Athens, Greece

Free Communications

Sex differentiation, Gonads and Gynaecology or Sex Endocrinology

hrp0089fc8.1 | Sex differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2018

Estrogen Receptor 2 Variant as a Novel Cause for Dysgenetic Ovaries

Lang-Muritano Mariarosaria , Sproll Patrick , Wyss Sascha , Kolly Anne , Hurlimann Renate , Konrad Daniel , Biason-Lauber Anna

Background: Variants in the estrogen receptor α (ESR1) have previously been described in male and female patients presenting with estrogen resistance. Estrogen resistance is characterized by delayed bone-age, early-onset osteoporosis, delayed puberty and multicystic ovaries in women. So far, no clinical consequences of variants in the estrogen receptor β (ESR2) have been reported in 46,XX patients, although ESR2 variants have previously been implicated in 46,XY DSD p...

hrp0089fc8.2 | Sex differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2018

Partial Restoration of Biological Effects of Estrogen in a Female with Estrogen Receptor α Variant

Feigerlova Eva , Laurell Henrik , Mittre Herve , Kottler Marie-Laure , Deshayes Marc , Balaguer Patrick , Bourget William , Arnal Jean-Francois , Marechaud Richard , Hadjadj Samy , Gourdy Pierre

Introduction: Rare mutations of the ESR1gene, encoding the estrogen receptor alpha (ERα), have been shown to cause estrogen resistance in humans. To date, there are no effective therapeutic options. We report the case of a new inactivating mutation of ERα and provide evidence for a partial restoration of biological effects of estrogen.Methods: We performed clinical and biological phenotyping of the index case and sequenced the ESR1...

hrp0089fc8.3 | Sex differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2018

Exomic Sequencing Uncovers Novel Genetic Associations for Deciphering Developmental Disorders (DDD) Study Participants with Hypospadias, Cardiovascular and Neurodevelopmental Abnormalities

Gazdagh Gabriella , McGowan Ruth , Ahmed Faisal , DDD Study Faisal , Tobias Edward

Background: Hypospadias is a common characteristic of Disorders of Sex Development (DSD). At the present time a molecular diagnosis is not reached in over 50% of cases. The DDD Study represents a useful resource of large molecular and phenotypic datasets obtained from individuals with an undiagnosed developmental abnormality including DSD.Objective: To review associated features and identify likely pathogenic variants in previously undiagnosed DDD partic...

hrp0089fc8.4 | Sex differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2018

STARD8, a Novel Candidate Gene for 46,XY Disorders of Sex Development

Mercade Ivan Domenech , Gutierrez Daniel Rodriguez , Nef Serge , Biason-Lauber Anna

Background: An activation cascade of specific genes sets up the initiation of sex determination leading in males to testes formation and synthesis of testicular hormones. Disruption of this gene cascade may cause a spectrum of 46,XY disorders/differences of sex development (DSD) phenotypes. Here we describe for the first time two sisters suffering from 46,XY DSD, who by whole exome sequencing revealed to carry a X-linked mutation in the StAR-related lipid transfer domain prote...

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...

hrp0089fc8.6 | Sex differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2018

The Roles of Steroids in Gonadal Development and Maintenance – Insights from a Zebrafish Model of Androgen and Cortisol Deficiency

Oakes James A. , Li Nan , Wistow Belinda , Storbeck Karl-Heinz , Cunliffe Vincent T. , Krone Nils

Increasing evidence suggests that the aetiology of disorders of sex development cannot be solely explained by genetic alterations. It is highly likely that environmental factors hitting susceptible genetic backgrounds are partly causative. Zebrafish sex is highly plastic during development, making this species an ideal model for investigation of endocrine disruption and gonadal development and function. However, the hormonal regulation of these processes in zebrafish is poorly...