Incomplete male puberty: a new nosographic entity

Area of Science:

• Pediatric Endocrinology
• Reproductive Biology
• Endocrinology

Background:

• Incomplete male puberty is characterized by normal secondary sexual development but inadequate testicular volume (<12 mL) due to Sertoli cell dysfunction.
• This condition often goes undiagnosed until infertility is investigated, typically revealing azoospermia or severe oligozoospermia.

Purpose of the Study:

• To review the pathophysiology, diagnostic tools, and management strategies for incomplete male puberty.
• To highlight the importance of early identification and intervention.

Main Methods:

• A comprehensive literature search was conducted across major scientific databases (SciSpace, PubMed, Google Scholar).
• The review synthesized over 500 publications on Sertoli cell biology, biomarkers (AMH, Inhibin B), minipuberty, and risk factors for testicular dysfunction.
• This is a narrative review, without a standardized methodology for manuscript selection.

Main Results:

• Minipuberty (1-6 months of life) is a critical diagnostic window, with peak Inhibin B and AMH levels reflecting Sertoli cell function.
• Low Inhibin B (<60 pg/mL) during minipuberty predicts poor spermatogenic outcomes.
• Key risk factors include cryptorchidism, maternal diabetes/hypothyroidism, and in utero exposure to endocrine disruptors.

Conclusions:

• A structured surveillance protocol, including infant hormonal screening, serial orchidometry, and Sertoli cell stimulation tests, can detect incomplete male puberty early.
• Early recognition facilitates timely intervention, potentially preventing irreversible spermatogenic failure and enabling appropriate counseling.