genetic study of female with premature ovarian failure and 46 XX gonadal dysgenesis

Inas Mazen; Amin heba; Mekkawi Mona; Mohamed Samir; Anu Bashamboo; Kenneth Mclreavey

doi:10.1530/endoabs.118.PO7

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Endocrine Abstracts (2026) 118 PO7 | DOI: 10.1530/endoabs.118.PO7

IDSD2026 Poster Abstracts Poster Abstracts (93 abstracts)

Genetic study of female with premature ovarian failure and 46 XX gonadal dysgenesis

Inas Mazen ¹ , Amin heba ² , Mekkawi Mona ³ , Mohamed Samir ¹ , Anu Bashamboo ⁴ & Kenneth Mclreavey ⁴

Author affiliations

¹Department of Clinical Genetics, Human Genetics and genome Research National Research Center,Cairo. Egypt; ²Department of Medical molecular Genetics, Human Genetics and genome Research National Research Center,Cairo. Egypt; ³Department of Human Cytogenetics, Human Genetics and genome Research National Research Center,Cairo. Egypt; ⁴Institute Pasteur, Human Reproductive genetics, Paris, France

Background: The genetics of premature ovarian failure (POF) are diverse, involving genetic and chromosomal abnormalities that disrupt ovarian function. Key genetic causes include X-chromosome abnormalities (like Turner syndrome), expansions in the FMR1 gene (associated with fragile X syndrome), and mutations in other genes like AIRE, FSH, and FOXL2 which are involved in folliculogenesis, DNA repair, and hormonal signaling. Genetic testing, including karyotyping and gene sequencing, is essential for diagnosing POF and providing personalized reproductive and genetic counseling, especially in cases with a family history of the condition.

Methods: Karyotype and exome sequencing were performed for all idiopathic 46 xx female ( 18 patients) presenting with primary amenorrhea with lack of secondary sexual characters and premature ovarian failure

Aim of the study: Is to detect variants associated with idiopathic premature ovarian failure and 46 xx gonadal dysgenesis

Results and conclusion: This is the first genetic study of patients with POI and gonadal dysgenesis in an Egyptian population. It showed a high yield of novel and previously reported mutations which highlights unique genetic architecture. this helped in providing an accurate genetic counselling.