Kallmann syndrome is a congenital form of hypogonadism caused by low levels of hypogonadotropic hormones. In addition to incomplete or delayed puberty and infertility, it characteristically manifests with hyposmia or anosmia from birth. The decrease in gonadal function is due to a failure in the differentiation or migration of neurons that arise embryologically in the olfactory mucosa and normally take up residence in the hypothalamus to serve as gonadotropin-releasing hormone neurons. Although no definitive biomarker is available, a family history of delayed puberty may be present, and case reports have identified genetic differences in patients. Decreased levels of sex steroids result from the deficit in gonadotropin-releasing hormone and lead to the prominent signs and symptoms of a lack of sexual maturity and the absence of secondary sexual characteristics. Typical diagnosis occurs when a child fails to begin puberty. The condition, first described in the modern era in 1944, is a rare, X-linked genetic disease that is estimated to affect 1 in 48,000 individuals and is 4 times more prevalent in males compared to females. Treatment involves life-long hormone replacement therapy and may include surgery for male patients to correct undescended testicles. Patients have an increased risk of developing osteoporosis later in life due to decreased sexual hormone production and are often prescribed vitamin D supplementation and bisphosphonates. This activity reviews the evaluation and treatment of Kallmann syndrome and discusses the role of the interprofessional team in evaluating and treating patients with this condition.
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Relevant across 8 specialties.
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