Peer-reviewed article
Incomplete male puberty: a new nosographic entity.
La Vignera S, Condorelli RA ·
Summary
Written by AI, not yet AICS's view · claude-haiku-4-5-20251001This is a medical review of incomplete male puberty, a condition where boys develop normal secondary sexual characteristics but fail to achieve adequate testicular volume due to Sertoli cell dysfunction. The paper examines the pathophysiology, diagnostic biomarkers (Inhibin B and AMH), and clinical management strategies. It identifies risk factors including cryptorchidism, maternal metabolic disorders, and exposure to endocrine-disrupting chemicals. The authors propose early screening during infancy and childhood to enable timely intervention.
Key points
- Inhibin B below 60 pg/mL during minipuberty (months 1-6 of life) predicts poor spermatogenic outcomes
- Bilateral Sertoli cell impairment occurs in 70% of unilateral cryptorchidism cases
- Risk factors include offspring of diabetic or hypothyroid mothers and prenatal exposure to endocrine-disrupting chemicals
- A structured surveillance protocol combining early hormonal screening, serial orchidometry, and Sertoli cell stimulation tests can identify the condition before irreversible failure
- Early recognition enables timely intervention and counselling
Limitations
This is a narrative literature review without systematic methodology for manuscript selection, so the synthesis may reflect publication bias and subjective interpretation. The document focuses on diagnosis and pathophysiology rather than evaluating the effectiveness of proposed interventions or surveillance protocols.
Abstract
Purpose Incomplete male puberty is a recently proposed nosographic entity defined by the development of normal secondary sexual characteristics in boys who nonetheless fail to achieve adequate testicular volume (<12 mL) during puberty due to underlying Sertoli cell dysfunction. The condition typically goes unrecognised until the first spermiogram reveals azoospermia or severe oligozoospermia. This review examines the pathophysiology, available diagnostic tools, and clinical management strategies. Methods A comprehensive literature search was conducted across SciSpace, PubMed, and Google Scholar covering Sertoli cell biology, AMH and Inhibin B as biomarkers, minipuberty physiology, endocrine disruptors, cryptorchidism, maternal metabolic disorders, and nutritional influences on testicular development. More than 500 relevant publications were retrieved and synthesised. This is a narrative review; no standardized or systematic methodology was applied for manuscript selection. Results Minipuberty (months 1-6 of life) represents the earliest and most informative diagnostic window: Inhibin B peaks at 378 ± 23 pg/mL and AMH rises sharply, both reflecting Sertoli cell mass and function. Inhibin B below 60 pg/mL during this window predicts poor spermatogenic outcomes. Pubertal testicular volume progression below the P10 centile, or failure to reach ≥12 mL in adulthood, constitutes a cardinal sign. High-risk categories include cryptorchidism (bilateral Sertoli impairment in 70% of unilateral cases), offspring of diabetic or hypothyroid mothers, and boys exposed to endocrine-disrupting chemicals in utero. Conclusion A structured surveillance protocol combining early infancy hormonal screening during minipuberty, serial orchidometry throughout childhood, and targeted Sertoli cell stimulation tests can identify incomplete male puberty years before irreversible spermatogenic failure. Early recognition enables timely intervention and counselling.