Kallmann syndrome 2
Overview
A rare inherited condition characterized by hypogonadism and impaired or absent sense of smell. The condition occurs as a result of failure of a part of the hypothalamus which results in hormonal imbalance. Type 2 is caused by a genetic defect located at chromosome 8p11.2-p11.1.
Symptoms
* Reduced sense of smell * Absent sense of smell * Reduced hormone production by testes * Reduced hormone production by ovaries * Delayed puberty * Small genitalia * Delayed growth
Diagnosis
The diagnosis is often one of exclusion found during the workup of delayed puberty. The presence of anosmia together with delayed puberty in either boys or girls should suggest Kallmann syndrome.
Treatment
Treatment is directed at restoring the deficient hormones -- known as hormone therapy (HT). Males are administered human chorionic gonadotropin (hCG) or testosterone. Females are treated with oestrogen and progestins. To induce fertility in males or females, GnRH (aka LHRH) is administered by an infusion pump, or hCG/hMG/FSH/LH combinations are administered through regular injections. Fertility is only maintained whilst actually being treated with these hormones. Once fertility treatment stops it is necessary to revert to the normal HRT of testosterone for men and oestrogen + progestins for women. The main health risk, for both men and women, of untreated Kallmann Syndrome is osteoporosis. Therefore, regular bone density scans (every 2 years or so) are advisable, even if being treated with HRT. Additional medication specifically for osteoporosis is necessary in some cases.