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Updated: Apr 18, 2026
09:40
A Seminiferous Tubule Squash Technique for the Cytological Analysis of Spermatogenesis Using the Mouse Model
Published on: February 6, 2018
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[Pasqualini's syndrome: hypoandrogenism with spermatogenesis]
Hernán Valdés Socin1, Albert Beckers
1Servicio de Endocrinología, Centro Universitario de Lieja, Bélgica.
Medicina
|February 1, 2015
Summary
Pasqualini syndrome, or "fertile eunuch" syndrome, involves hypoandrogenism with preserved spermatogenesis. Genetic studies revealed luteinizing hormone (LH) mutations causing infertility, treatable with human chorionic gonadotropin (hCG).
Area of Science:
- Endocrinology
- Reproductive Biology
- Genetics
Background:
- Pasqualini syndrome, first described in 1950, is characterized by hypoandrogenism with preserved spermatogenesis.
- It presents as eunuchoidism despite normal testicular volume and spermatogenesis, with immature Leydig cells.
Observation:
- Early observations noted absent luteinizing hormone (LH) in patients' plasma and urine.
- Subsequent research identified biologically inactive LH due to inactivating mutations in the LHB gene as the cause.
Findings:
- Genetic and functional studies confirmed a deficit in LH activity as the physiopathogenic mechanism.
- Mutations in the LHB gene were found to result in LH with immunological activity but biological inactivity.
Implications:
- Understanding Pasqualini syndrome allows for therapeutic interventions to reverse hypoandrogenism.
- Treatment with human chorionic gonadotropin (hCG) and in-vitro fertilization techniques can restore fertility.
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