ECE2021 Audio Eposter Presentations Reproductive and Developmental Endocrinology (55 abstracts)
Phenotypic expression of a defects in androgen synthesis of action
Wajdi Safi 1 , Bochra Ben Rhouma 2 , Fatma Abdelhedi 2 , Thouraya Kammoun 3 , Neila Belghuith 2 , Nabila Rekik 1 , Hassen Kammoun 2 , Mouna Mnif Feki 1 & Mohamed Abid 1
1Faculty of Sciences of Sfax, Tunisia, Department of Endocrinology, Sfax, Tunisia; 2Hedi Chaker Hospital, Sfax; Tunisia, Laboratory of Molecular and Functional Genetics, Sfax, Tunisia; 3Hedi Chaker hospital, Sfax; Tunisia, Pediatric Department, Sfax, Tunisia
Sexual differentiation is a sequential process where several genes are involved, therefore a defect at any stage can lead to a divergence between genetic, gonadal and phenotypic sex. The objective of our work is to analyze the clinical and hormonal characteristics of 13 XY patients, explored between 1989 and 2007 and belonging to 10 different families. The average age of our patients was 18.9 years (2–33 years). The reason for consultation was sexual ambiguity in two cases, puberty delay in 5 cases, primary amenorrhea in 5 cases and inguinal hernia in the remaining case. Consanguinity was found in 50% of cases and the notion of similar cases in the family in 70% of cases. Insensitivity to androgens was suspected in 5 cases with elevated testosterone levels averaging 4 ng/ml (extreme 6–12 ng/ml) with a high LH level averaging 20 mIU/ml (extreme 32–63 mIU/ml). The molecular study confirmed the presence of a P752Z androgen receptor mutation (at exon 5 of the gene) in the 2 familial cases. A gonadotropin receptor abnormality was suspected in 5 cases with elevated LH levels on average at 15 mIU/ml (range 27–43 mIU/ml) and FSH levels at 11 mIU/ml (range 12–24 mIU/ml) contrasting with low testosterone level on average at 0.3 ng/ml (extreme 0.01–0.9 ng/ml) not stimulable by HCG. The absence of Leydig cells in the histological study of the testes confirmed the diagnosis in the 5 patients. The molecular study confirmed the presence of a Q525X missense mutation in the second extracellular loop of the LH receptor in 3 cases, among them two with familial incidence. The female phenotype in 46, XY DSD patients is a rare phenomenon of various etiolgies. Its management is a medical, social and psychological emergency and depends as much on the genetic anomaly and hormonal profile but also on the age of diagnosis, the sex of breeding and the psychological profile.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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