Hypogonadism Differential Diagnoses

Updated: Aug 03, 2022
  • Author: Maria G Vogiatzi, MD; Chief Editor: George T Griffing, MD  more...
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Diagnostic Considerations

For adolescents with delayed puberty, the differential diagnosis is mainly between constitutional delay of puberty and hypogonadism. Constitutional delay is by far more common than hypogonadism and is frequently associated with a positive family history.

If hypogonadism is suspected, measurement of serum LH and FSH concentrations can be used to distinguish between hypogonadotropic and hypergonadotropic hypogonadism and guide further evaluation and management. Serum LH and FSH levels are elevated in cases of hypergonadotropic hypogonadism.

Hypergonadotropic hypogonadism indicates a primary gonadal defect (congenital or acquired), while hypogonadotropic hypogonadism suggests a hypothalamic/pituitary process (congenital or acquired). The differential diagnosis between hypogonadotropic hypogonadism and constitutional delay can be challenging because low LH values can be seen in both.

A history of anosmia and/or the presence of microphallus raise concerns for the presence of hypogonadotropic hypogonadism.

Turner syndrome should be considered in short females with absent sexual development. However, a small number of patients experience spontaneous puberty (approximately 10%) and can later present with primary or secondary amenorrhea.

Arrested puberty in the presence of gynecomastia in a male raises concern for gonadal failure. Klinefelter syndrome needs to be ruled out in such cases.

Differential Diagnoses