Reproductive hormones in 46, XY differences/disorders of sex development and healthy populations

di mao; Chunxiu Gong

doi:10.1530/endoabs.110.EP1298

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Endocrine Abstracts (2025) 110 EP1298 | DOI: 10.1530/endoabs.110.EP1298

ECEESPE2025 ePoster Presentations Reproductive and Developmental Endocrinology (128 abstracts)

Reproductive hormones in 46, XY differences/disorders of sex development and healthy populations

di mao ¹ & Chunxiu Gong ²

Author affiliations

¹Department of Endocrinology, Genetics, Metabolism, Beijing Children’s Hospital, Capital Medical University, Department of Pediatrics, The Sixth Affiliated Hospital of Harbin Medical University, Harbin, China; ²Department of Endocrinology, Genetics, Metabolism, Beijing Children’s Hospital, Capital Medical University; Department of Pediatrics, The Sixth Affiliated Hospital of Harbin Medical University, Beijing, China

JOINT2083

Background: Reproductive hormones evaluation plays a critical role in diagnosing 46 XY Differences/Disorders of Sex Development (DSD). However, there is limited data on hormonal levels in both prepubertal and pubertal stages, particularly when compared to healthy cohorts.

Objective: The aim of this study was to investigate the differences in hormonal levels between 46 XY DSD patients and healthy controls during prepuberty and puberty, specifically focusing on luteinizing hormone (LH), follicle-stimulating hormone (FSH), testosterone (T), estradiol (E2), anti-müllerian hormone (AMH), and inhibin B (INHB).

Methods: In this retrospective, semi-longitudinal study, serum samples were collected from two cohorts: 46 XY DSD patients (i) 201 with steroid 5α-reductase deficiency (5aRD), (ii) 120 with Androgen Insensitivity Syndrome (AIS), (iii) 95 with NR5A1 mutations, and 52 healthy male controls. Hormonal measurements of LH, FSH, T, E2, AMH, and INHB were performed using chemiluminescent immunoassays (Immulite 2000, Siemens Healthcare, Sudbury, UK).

Results: Compared to age-matched healthy controls, patients with 5aRD exhibited significantly elevated LH and FSH levels between 1 and 9 years of age, higher LH and INHB levels from 9 to 11 years, and a notable increase in T levels. Between 11 and 13 years, 5aRD patients had higher levels of LH, T, E2, AMH, and INHB, with elevated LH, T, and E2 levels observed in those older than 13 years. AIS patients demonstrated increased levels of LH, T, and E2 between 1 and 9 years, higher T and INHB levels between 9 and 11 years, and elevated LH, T, and E2 levels in those aged over 11 years. NR5A1 mutation patients showed higher levels of LH, FSH, and T, along with lower AMH levels between 1 and 11 years. After 11 years, these patients exhibited elevated LH, FSH, and E2 levels, with decreased AMH and INHB levels.

Conclusions: Distinct hormonal secretion patterns were observed in all three 46 XY DSD conditions compared to healthy controls. The 5aRD patients exhibited signs of earlier pubertal development, characterized by elevated LH, INHB, and a rising trend in T levels between 9 and 11 years. The AIS cohort demonstrated features of androgen resistance in their hormonal profiles. In patients with NR5A1 mutations, early pubertal development was noted between 1 and 11 years, but the absence of a significant increase in T levels, alongside decreased AMH and INHB levels after 11 years, suggests the onset of gonadal dysfunction.