Pubertal Dynamics of Sertoli and Leydig Cell Dysfunction in Klinefelter Syndrome
Authors' conclusion
Testicular insufficiency in KS begins approximately 18 months after pubertal onset, with Sertoli cell failure preceding Leydig cell decline. Early diagnosis and longitudinal monitoring are essential to guide endocrine management and to support individualized counselling regarding fertility preservation strategies, which should be considered according to pubertal stage rather than chronological age.
Study context
- Population
- Patients with Klinefelter syndrome (47, XXY) aged 9–25 years, followed from the prepubertal period at Lille University Hospital
- Participants
- 57 patients
- Exposure
- Prenatal vs postnatal diagnosis of klinefelter syndrome (KS)
- Outcome
- Onset and progression of testicular insufficiency (Sertoli and Leydig cell dysfunction) during puberty, by pubertal stage
Methodological detailssingle-centre, longitudinal
- Single-centre
- Longitudinal
Main finding
As reported in the abstract
Testicular insufficiency during puberty
- Spontaneous pubertal entry at physiological age, mean age
- 12.6 years
- Slow pubertal tempo, mean duration
- 4.08 years
- Sertoli cell dysfunction (rising FSH, declining AMH and inhibin B) appeared within months of pubertal onset
- 12 months
- Inhibin B never reached Tanner stage 5 reference range; fell below adult threshold (92 pg/mL) after pubertal onset
- 2 years
- Leydig cell dysfunction (elevated LH, low-normal testosterone) emerged after
- 36 months
- Sertoli cell insufficiency (FSH > 7.19 IU/L) at puberty completion
- 94%
- Leydig cell insufficiency (LH > 5.88 IU/L) at puberty completion
- 80%
Observational data: associations, not effects.
Further findings
| Outcome | P value |
|---|---|
| LH and inhibin B by diagnostic timingPostnatal vs Prenatal · higher LH with postnatal diagnosis | P = 0.03 |
| LH and inhibin B by diagnostic timingPostnatal vs Prenatal · lower inhibin B with postnatal diagnosis | P = 0.01 |
Original publication
Pubertal Dynamics of Sertoli and Leydig Cell Dysfunction in Klinefelter Syndrome. Clin Endocrinol (Oxf). Published 11 June 2026. doi:10.
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