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A possible role for reproductive hormones in newborn boys: progressive hypogonadism without the postnatal
K M Main1, I M Schmidt, N E Skakkebaek
1Department of Growth and Reproduction, The National University Hospital, Rigshospitalet, DK-2100 Copenhagen, Denmark. RH04639@RH.DK
Insights
Early infant testosterone is crucial for male genital development. Low reproductive hormones in infancy may indicate hypogonadism, detectable via early hormonal testing.
Area of Science:
- Pediatric Endocrinology
- Reproductive Endocrinology
- Neonatal Development
Background:
- Healthy male infants exhibit significant reproductive hormone production in early months, though its function remains unclear.
- Hypogonadism in infancy can manifest as impaired penile growth and scrotal involution.
- Understanding early hormonal roles is vital for diagnosing and managing congenital endocrine disorders.
Observation:
- We present cases of male infants diagnosed with hypogonadism (hypogonadotropic hypogonadism and panhypopituitarism).
- Affected infants displayed absent penile growth and scrotal regression.
- Hormonal assays revealed undetectable testosterone, low inhibin B, and low/undetectable gonadotropins (LH, FSH) in early infancy.
Findings:
- Testosterone replacement therapy successfully restored male genital development in affected infants.
- Gonadotropin deficiency can be diagnosed postnatally by measuring spontaneous reproductive hormone levels.
- Normal phallic and scrotal development in humans depends on adequate testosterone secretion during early infancy.
Implications:
- Early postnatal hormonal screening can aid in diagnosing gonadotropin deficiency within a critical developmental window.
- Prompt diagnosis and treatment of infantile hypogonadism are essential for normal sexual development.
- This study highlights the critical role of the fetal-maternal and infantile hypothalamic-pituitary-gonadal axis in early male development.
Abstract:
Healthy boys have a considerable production of reproductive hormones during the first postnatal months, the biological significance of which is poorly understood. We report on cases of male infants with hypogonadism (hypogonadotropic hypogonadism, n = 1; panhypopituitarism, n = 2) who showed lack of penile growth and involution of the scrotum. In two boys, diagnoses were obtained in early infancy and hormonal measurements at 3-4 months of age showed serum testosterone levels below detection limits in both low inhibin B (37 and 199 pg/mL, respectively; normal range, 193-563 pg/mL) and low to undetectable gonadotropins [LH, undetectable and 0.07 IU/L (normal range, 0.65-2.69 IU/L), respectively; FSH, 0.18 IU/L in both (range, 0.86-2.52 IU/L)]. In a third boy, gonadotropin deficiency was diagnosed at 3 yr of age by undetectable serum levels of FSH and LH both before and after stimulation with GnRH. All cases required hormonal treatment with testosterone, administered as suppositories in daily doses between 1 and 5 mg, which reintroduced male genital development. Our observations suggest that normal phallic and scrotal development in humans is dependent on intact testosterone secretion during early infancy. Additionally, the diagnosis of gonadotropin deficiency may be established in a short-time window postnatally by measurement of spontaneous serum concentrations of reproductive hormones.
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