ESPE Abstracts

Introduction: Genes on the X chromosome (BMP15, FMR1) and autosomal chromosomes (FOXL2, RSPO1, WNT4) are known to influence ovarian development. 46,XX gonadal dysgenesis is a rare disease caused by chromosomal abnormalities, genetic mutations, and postnatal ovarian damage, leading to premature ovarian failure.

Case Report: A 16-year-old female presented with primary amenorrhea and poor breast development. She was born at 40 weeks of gestation with a birth weight of 3.79 kg. She had no personal or family medical history. Her physical and intellectual development were normal. On physical examination, her height was 0.29 standard deviation score (SDS), weight 1.73 SDS, and body mass index 2.10 SDS. She revealed no feature of Turner syndrome or dysmorphism. On pubertal assessment, her breasts were Tanner stage 1 and her pubic hair was Tanner stage 3. Bone age measured 13 years. Hormonal studies revealed: serum follicle-stimulating hormone 104.9 IU/l, luteinizing hormone 26.4 IU/l, estradiol <4.0 pg/mL. Serum β-human chorionic gonadotropin, prolactin, testosterone, and thyroid hormones were within normal limits. Chromosome analysis revealed a 46,XX karyotype. A pelvic ultrasonography showed a streak uterus (fundus 21 mm, cervix 5 mm), with the absence of bilateral ovaries. Multidisciplinary management including hormonal replacement is necessary. Additionally, advanced diagnostic approaches using array-comparative genomic hybridization and next generation sequencing are prerequisites for genetic counseling.

Conclusion: Further research on the genetic and non-genetic pathogenesis of 46,XX gonadal dysgenesis can contribute to better strategies for diagnosing and treating this rare disease.