Endocrinology · Endocrinology / Reproductive endocrinology
Kallmann syndrome
also: Hypogonadotropic hypogonadism with anosmia
Congenital hypogonadotropic hypogonadism with absent sense of smell.
- 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
- Alternative names & eponyms
- Hypogonadotropic hypogonadism with anosmia
Etiology & mechanism
Defective migration of GnRH neurons.
Gene(s) involved (14)
Symptoms & signs (10)
In plain terms, someone with Kallmann syndrome may experience the following — click any to explore related syndromes:
Same gene(s)
Other syndromes that involve one of this syndrome's genes.
Overlapping symptoms
Other syndromes that share symptoms with this one.
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Shares symptoms with
3 shared
Kallmann syndrome with neurological involvement
anosmia, cleft palate, hypogonadism
2 shared
Bardet–Biedl syndrome
anosmia, hypogonadism
2 shared
Branchio-oto-renal syndrome
hearing loss, renal agenesis
2 shared
Stickler syndrome
cleft palate, hearing loss
2 shared
Swyer syndrome
absent puberty, primary amenorrhea
2 shared
Turner syndrome
hearing loss, primary amenorrhea
1 shared
Aarskog–Scott syndrome
cryptorchidism
1 shared
Alport syndrome with diffuse leiomyomatosis
hearing loss
1 shared
Alström syndrome
hearing loss
1 shared
Androgen insensitivity syndrome
primary amenorrhea
Shares genes with
11 shared
Kallmann syndrome with neurological involvement
ANOS1, CHD7, FGF8, FGFR1, HS6ST1, IL17RD, PROK2, PROKR2, SEMA3A, SOX10, WDR11
1 shared
Brugada syndrome
SEMA3A
1 shared
CHARGE syndrome
CHD7
1 shared
Chronic intestinal pseudo-obstruction syndrome
SOX10
1 shared
Pfeiffer syndrome
FGFR1
1 shared
Pituitary stalk interruption syndrome
PROKR2
1 shared
Waardenburg syndrome
SOX10
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