Kalmann syndrome
Kalmann’s syndrome is caused by insufficient secretion of gonadotropins and is manifested by hypogonadism in combination with anosmia.
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- Kalylat syndrome 1 (*308700, Xp22.3, KALI gene defect, K). Clinically: hypogonadism and anosmia. Laboratory: deficiency of GnRH, impaired secretion of FSH and LH, resistance of Leydig cells to gonadotropins.
- Kallmann syndrome 1 (*147950, R). Additionally: short stature, mental retardation, congenital heart disease, sensorineural hearing loss.
- Kalmann’s syndrome 3 (*244200, p). Additionally: cleft lip, cleft palate, hypotelorism.
- Kalmann’s syndrome with spastic paraplegia (308750, Xp22.3, KALI gene defect, X).
ICD. E23.0 Hypopituitarism
MIM. Kalmann syndrome (147950, 244200, 308700, 308750) Literature. Kallmann FJ et al: The genetic aspects of primary eunuchoidism. Am J. Ment. Defic. 48:203-236, 1944