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Синдром Калмана

ORPHA:478· ICD-10 E23.0· Kallmann syndrome

Визначення(English summary)

Kallmann syndrome (KS) is a developmental genetic disorder characterized by the association of congenital hypogonadotropic hypogonadism (CHH) due to gonadotropin-releasing hormone (GnRH) deficiency, and anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs).

Поширеність
1-9 / 100 000
Успадкування
Autosomal dominant, Autosomal recessive, Multigenic/multifactorial, X-linked recessive
Вік початку
Adolescent, Childhood