ArticleClinical and translational science2022
Differences of adrenal-derived androgens in 5α-reductase deficiency versus androgen insensitivity syndrome.
Article in Clinical and translational science, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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8 citing papers in PubMed, 10 citations in OpenAlex.
- Development and Validation of a High-performance Liquid Chromatography-Tandem Mass Spectrometry Method for Detecting Adrenocortical Hormones and Establishment of Age-stratified Reference Intervals in Reproductive-aged Women from Guangxi, China.Annals of laboratory medicine · 2026Article
- Exploring the clinical implications of novel SRD5A2 variants in 46,XY disorders of sex development.Asian journal of andrology · 2025Article
- A Very Early Diagnosis of Complete Androgen Insensitivity Syndrome Due to a Novel Variant in the AR Gene: A Neonatal Case Study.Biomedicines · 2024Article
- [Value of the human chorionic gonadotropin stimulation test in the diagnosis of disorder of sexual development in children].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2024Article
- Androgen insensitivity syndrome: a review.Journal of endocrinological investigation · 2023Review
- Genetic control of typical and atypical sex development.Nature reviews. Urology · 2023Review
- Inclusion of 11-Oxygenated Androgens in a Clinical Routine LC-MS/MS Setup for Steroid Hormone Profiling.International journal of molecular sciences · 2022Article
- Differences of adrenal-derived androgens in 5α-reductase deficiency versus androgen insensitivity syndrome.Clinical and translational science · 2022Article
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10 authors at 4 institutions in 2 countries.
Funding
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Abstract
Steroid 5α-reductase type 2 deficiency (5α-RD2) and androgen insensitivity syndrome (AIS) are difficult to distinguish clinically and biochemically, and adrenal-derived androgens have not been investigated in these conditions using modern methods. The objective of the study was to compare Chinese patients with 5α-RD2, AIS, and healthy men. Sixteen patients with 5α-RD2, 10 patients with AIS, and 39 healthy men were included. Serum androgen profiles were compared in these subjects using liquid chromatography/tandem mass spectrometry (LC-MS/MS). Based on clinical features and laboratory tests, 5α-RD2 and AIS were diagnosed and confirmed by genotyping. Dihydrotestosterone (DHT) and testosterone (T) were both significantly lower in patients with 5α-RD2 than AIS (p < 0.0001). The T/DHT ratio was higher in 5α-RD2 (4.5-88.6) than AIS (13.4-26.7) or healthy men (7.6-40.5). Using LC-MS/MS, a cutoff T/DHT value of 27.3 correctly diagnosed 5α-RD2 versus AIS with sensitivity 93.8% and specificity 100%. Among the adrenal-derived 11-oxygenated androgens, 11β-hydroxyandrostenedione (11OHA4) and 11-ketoandrostenedione (11KA4) were also lower in patients with 5α-RD2 than those of patients with AIS. In contrast, 11β-hydroxytestosterone (11OHT) was higher in 5α-RD2 than AIS. Furthermore, a 11OHT/11OHA4 cutoff value of 0.048 could also distinguish 5α-RD2 from AIS. Thus, both elevated T/DHT values above 27.3 and the unexpected 11-oxygenated androgen profile, with a 11OHT/11OHA4 ratio greater than 0.048, distinguished 5α-RD2 from AIS. These data suggest that the metabolism of both gonadal and adrenal-derived androgens is altered in 5α-RD2.
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