ESPE2023 Poster Category 2 Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology (27 abstracts)
Novel genetic variant in NR5A1 (SF1) gene with clinical presentation of Hypergonadotropic hypogonadism
Maria Sredkova-Ruskova 1 , Silvia Andonova 2 , Todor Ruskov 1 , Tsvetina Veleva 1 , Trayan Delchev 1 , Alexey Savov 2 & Daniela Avdjieva-Tzavella 1
1University Pediatrics Hospital, Sofia, Bulgaria. 2National Genetic Laboratory, UHOG “Maichin dom”, Sofia, Bulgaria
Background/Objectives: Hypergonadotropic hypogonadism (HH) is characterised by primary gonadal failure with excess of pituitary gonadotropin secretion. The causes can be congenital or acquired. Herein, we report a case of a 10-years-old-boy with obesity, development of HH during follow-up and a novel genetic variant in NR5A1 (SF1) gene with de novo origin.
Methods: The child presented with obesity (started at the age of 5 years with gradual increase of the weight) and development of eunochoid body shape. At the age of 10 years his BMI was 28.19 kg/m2, with normal height of 138 cm. The pubertal development was Tanner stage 3 with testes’ size of 4 ml. In the next 3 years his BMI increased to 32 kg/m2 despite recommended change in the lifestyle. Pubarche advanced to stage 4 with no increase of testes' size. Gradually he developed lab constellation of HH with elevated pituitary goandotropins and estradiol levels, decreased testosterone and borderline SHBG levels. The karyotype was 46,XY. Treatment with testosterone has been started at the age of 13 years with reducing of weight with 10 kg for 6 months. DNA from K2EDTA blood was extracted from the proband and his parents. Sanger sequencing of coding regions and intron-exon boundaries of NR5A1(SF1) gene was performed after PCR amplification.
Results: A heterozygous genetic variant NR5A1:c.371_374del (p.Pro124ArgfsTer171) with de novo origin was identified in the patient.
Conclusion: SF-1 regulates a constellation of genes that are required for gonadotrope function. Further studies are needed to identify the mechanisms by which these effects are mediated. In our opinion NR5A1(SF1) mutation screening needs to be included in differential diagnosis of HH.
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