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| Disease found: | Kallman Syndrome |
| Current as of: | October 8, 2024 |
| Disease Overview: | Genetically heterogeneous impairment in the normal development and migration of GnRH neurons from the olfactory epithelium to the hypothalamus, leading to hypogonadotrophic hypogonadism and failure to undergo puberty [more info] |
| Signs and Symptoms: | Affects both boys and girls; boys more common. Presents with failure to undergo puberty, infertility, and anosmia; affected boys may have undersized genitalia or cryptorchidism at birth. Adrenarche can still occur. May be associated with renal agenesis, cleft palate, ataxia, deafness, mirrored movements. [more info] |
| Diagnosis: | Failure to undergo puberty in the setting of low serum FSH, LH, and sex hormones suggests hypogonadotrophic hypogonadism; MRI brain may or may not show olfactory bulb abnormalities. [more info] Clinical and lab findings are sufficient for diagnosis but genetic testing for commonly affected genes is available. |
| Treatment: | Hormone replacement therapy to induce puberty and maintain normal hormone levels (as appropriate for patient's sex) is indicated. Males should receive testosterone therapy, and females should receive estrogen and progestin. Pulsatile GnRH analog therapy may be given to try to induce male fertility / folliculogenesis in females if fertility is desired. [more info] |
| Clinical Management: | Fertility may be achieved in both males and females with appropriate hormone therapy if desired; patients should be aware they may become fertile. Patients may have low bone health depending on extent of prior low sex hormone levels; consider bone mineral density screening based on patient-specific risk factors. Treatment is usually life-long; 10-15% of patients may show spontaneous reversal of hypogonadotrophic hypogonadism; hormone levels should be routinely checked throughout life. [more info] |
| Referral: | Referral to endocrinology is recommmended. William Crowley MD, Massachusetts General Hospital, Boston MA 02114 (617-726-3038) is a contact for research advancements in Kallmann Syndrome. [more info]. Referral to Medical Genetics Department, if available. Initial virtual care is also available through organizations like TeleRare Health. |
| Clinical Trials: | A small number of trials are currently recruiting. |