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hrp0092p1-94 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

Familial Occurrence of Turner Syndrome in two Tunisian Families

Gargouri Imen , Kmiha Sana , Abdelhedi Fatma , Hadjkacem Faten , Safi Wajdi , Loukil Fatma , Mnif Mouna , Hachicha Mongia , Kamoun Thouraya , Belguith Neila , Abid Mohamed

Background: Turner syndrome (TS) is a common genetic disorder with an incidence of 1 in 2500 live births due to chromosomal errors resulting in monosomy for the X chromosome with or without mosaicism. Familial TS has been rarely reported. We report two families having TS.Methods: We report 6 patients with TS who had been referred to the Endocrinology department and Pediatric department at Hedi Chaker hospital, Sfax, Tuni...

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hrp0092p3-229 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

Primary Amenorrhea Revealing Leydig Cell Hypoplasia

Gargouri Imen , Hadjkacem Faten , Safi Wajdi , Othman Wafa Ben , Mnif Mouna , Hachicha Mongia , Kamoun Thouraya , Rhoum Bochra Ben , Belguith Neila , Abid Mohamed

Introduction: Leydig cell hypoplasia (LCH) or agenesis, is an autosomal recessive condition and a well-defined form of 46,XY disorder of sex development (DSD) resulting from inadequate foetal testicular Leydig cell differentiation.Inactivating mutations in the luteinizing hormone/chorionic gonadotropin receptor (LHCGR) gene account for the underlying LCH pathogenicityCase report: We studied a 15-ye...

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ESPE Abstracts

Familial Occurrence of Turner Syndrome in two Tunisian Families

Primary Amenorrhea Revealing Leydig Cell Hypoplasia

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