Idiopathic Hypogonadotropic Hypogonadism

Idiopathic hypogonadotropic hypogonadism (IHH) is congenital gonadotropin-releasing-hormone (GnRH) deficiency with low LH/FSH and low sex steroids, causing delayed/absent puberty and infertility. Kallmann syndrome is IHH combined with anosmia/hyposmia (GnRH-neuron migration defect). Non-Kallmann IHH has normal smell. Clinical: absent puberty, eunuchoid body proportions, infertility, low libido. Treatment: pulsatile GnRH or gonadotropins (hCG/FSH) to induce puberty/fertility; testosterone/estrogen replacement.

Common Symptoms

Delayed/absent puberty; infertility; low libido; erectile dysfunction; amenorrhea; anosmia (Kallmann); eunuchoid proportions

Causes and Pathogenesis

Congenital GnRH-neuron migration/secretion defects (KAL1, FGFR1, GNRHR mutations) cause low LH/FSH and consequent hypogonadism.

Treatment

Pulsatile GnRH; hCG + FSH for fertility; sex-steroid replacement for puberty/virilization/feminization

Preventive Measures

Genetic counseling; early endocrine evaluation of delayed puberty; bone health.

Department to Visit

It is recommended to visit the Endocrinology department; an appointment can be booked on this platform before the visit.

Warm reminder: The above information is for health science reference only and cannot replace professional medical diagnosis. If you have related symptoms, please seek medical attention at a regular hospital promptly.