Kallmann syndrome
Kallmann syndrome (KS) is a genetic disorder that prevents a person from starting or fully completing puberty. Kallmann syndrome is a form of a group of conditions termed hypogonadotropic hypogonadism. To distinguish it from other forms of hypogonadotropic hypogonadism, Kallmann syndrome has the additional symptom of a total lack of sense of smell (anosmia) or a reduced sense of smell. If left untreated, people will have poorly defined secondary sexual characteristics, show signs of hypogonadism, almost invariably are infertile and are at increased risk of developing osteoporosis. A range of other physical symptoms affecting the face, hands and skeletal system can also occur.
The underlying cause is a failure in the correct production or activity of gonadotropin-releasing hormone by the hypothalamus. This results in low levels of the sex hormones testosterone in males or oestrogen and progesterone in females. Diagnosis normally occurs during teenage years when puberty fails to start.
Lifelong treatment for all sexes is normally required. Hormone replacement therapy (HRT) is the major form of treatment with the aim to replace the missing testosterone or oestrogen and progesterone. Specialised fertility treatments are also available.
The condition is more commonly diagnosed in males than in females. A 2011 study of the Finnish population produced an estimated incidence of 1 in 48,000 people overall, with 1 in 30,000 for males and 1 in 125,000 for females. Kallmann syndrome was first described by name in a paper published in 1944 by Franz Josef Kallmann, a German-American geneticist. The link between anosmia and hypogonadism had already been noted by Spanish doctor Aureliano Maestre de San Juan in 1856.
Q178694
genetic
Concept
Q101065
puberty
Concept
Q1641332
hypogonadotropic hypogonadism
Concept
Q468433
total lack of sense of smell
Concept
Q1641423
reduced sense of smell
UNK
Q1784017
secondary sexual characteristics
Concept
Q938107
hypogonadism
Concept
Q179399
infertile
Concept
Q165328
osteoporosis
Concept
Q318896
gonadotropin-releasing hormone
Concept
Q164386
hypothalamus
Concept
Q1318776
testosterone
Concept
Q277954
oestrogen
Concept
Q26963
progesterone
Concept
Q3354346
Hormone replacement therapy
Concept
Q84659
Franz Josef Kallmann
PER
Q183
German
LOC
Q30
American
LOC
Q3126128
geneticist
Concept
Q4822241
Aureliano Maestre de San Juan
PER
Q1165179
Kallmann syndrome
Concept
Q1165179
Kallmann syndrome
Concept
Q1165179
Kallmann syndrome
Concept
Q1165179
Kallmann syndrome
Concept
2011-01-01T00:00:00Z^^http://www.w3.org/2001/XMLSchema#dateTime
2011
DATE
1944-01-01T00:00:00Z^^http://www.w3.org/2001/XMLSchema#dateTime
1944
DATE
1856-01-01T00:00:00Z^^http://www.w3.org/2001/XMLSchema#dateTime
1856
DATE
+1^^http://www.w3.org/2001/XMLSchema#decimal
1
NUMBER
+1^^http://www.w3.org/2001/XMLSchema#decimal
1
NUMBER
+1^^http://www.w3.org/2001/XMLSchema#decimal
1
NUMBER
+125.000^^http://www.w3.org/2001/XMLSchema#decimal
125,000
NUMBER
symptoms and signs
symptoms and signs
symptoms and signs
country of citizenship
country of citizenship
occupation