Delayed puberty versus hypogonadism: a challenge for the pediatrician

Area of Science:

• Pediatrics
• Endocrinology
• Genetics

Background:

• Constitutional delay of growth and puberty (CDGP) is the most frequent cause of delayed puberty (DP), primarily affecting males and characterized by short stature and delayed skeletal maturation.
• DP is often a normal variant with favorable final height and reproductive capacity, but it necessitates exclusion of other underlying conditions.
• Family history and physical examination offer initial clues to the etiology of DP.

Purpose of the Study:

• To outline the diagnostic approach to delayed puberty.
• To differentiate Constitutional delay of growth and puberty from other causes of delayed puberty, including hypogonadotropic hypogonadism and hypergonadotropic hypogonadism.
• To highlight the importance of excluding organic causes before diagnosing CDGP.

Main Methods:

• Review of clinical presentation, family history, and physical examination findings.
• Hormonal assays including testosterone, estradiol, FSH, and LH levels.
• Consideration of imaging studies like MRI for central nervous system abnormalities and genetic analysis for chromosomal disorders.

Main Results:

• CDGP presents with linear growth delay followed by a pubertal growth spurt, and often a delayed bone age.
• Functional hypogonadotropic hypogonadism can be transient and associated with conditions like celiac disease or anorexia nervosa.
• Permanent hypogonadotropic hypogonadism may stem from CNS abnormalities or genetic syndromes (e.g., Kallmann syndrome).
• Hypergonadotropic hypogonadism is suggested by low sex hormones and elevated FSH/LH, potentially indicating chromosomal abnormalities like Turner or Klinefelter syndrome.

Conclusions:

• Constitutional delay of growth and puberty is a diagnosis of exclusion, requiring thorough investigation to rule out other causes of delayed puberty.
• Accurate diagnosis involves a combination of clinical assessment, hormonal profiling, and potentially advanced imaging and genetic testing.
• Psychological support may be beneficial for adolescents experiencing difficulties related to CDGP.