ESPE Abstracts (2022) 95 P2-275

ESPE2022 Poster Category 2 Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology (30 abstracts)

A female with 46,XX gonadal dysgenesis presenting with hypergonadotropic hypogonadism and normal height

Young Ju Choi , Min Jeong Jang , In Young Cho , Min Ho Jung & Byung-Kyu Suh

Department of Pediatrics, College of Medicine, The Catholic University of Korea, Seoul, Republic of South Korea

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.

Volume 95

60th Annual ESPE (ESPE 2022)

Rome, Italy
15 Sep 2022 - 17 Sep 2022

European Society for Paediatric Endocrinology 

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