Kallmann syndrome

Also known as: Hypogonadotropic hypogonadism with anosmia

Congenital hypogonadotropic hypogonadism with absent sense of smell.

Medical specialty: Endocrinology
Subspecialty: Endocrinology / Reproductive endocrinology
Sex & age distribution: Male: affected, 4–5 times more common; Female: affected; Children: yes, delayed puberty at adolescence
Gene(s) involved: ANOS1, CHD7, DUSP6, FEZF1, FGF8, FGFR1, HS6ST1, IL17RD, PROK2, PROKR2, SEMA3A, SOX10, SPRY4, WDR11

Etiology & mechanism

Defective migration of GnRH neurons.

Gene(s) involved (14)

ANOS1CHD7DUSP6FEZF1FGF8FGFR1HS6ST1IL17RDPROK2PROKR2SEMA3ASOX10SPRY4WDR11

Symptoms & signs (10)

absent pubertyanosmiacleft palatecryptorchidismhearing losshypogonadismmicropenismirror movementsprimary amenorrhearenal agenesis

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.