Kallmann syndrome

Kallmann syndrome
Other namesKallmann's hereditary anosmia
SpecialtyEndocrinology
SymptomsAbsent or delayed puberty, infertility, inability to smell
ComplicationsOsteoporosis
Usual onsetPresent at birth
DurationLifelong
TreatmentHormone replacement therapy
Gonadotropin therapy
Frequency1:30,000 (males), 1:125,000 (females)

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.[1] 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.[2][3][4] 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.[2] A range of other physical symptoms affecting the face, hands and skeletal system can also occur.[3]

  1. ^ Young, J. (1999-08-01). "Antimullerian Hormone in Patients with Hypogonadotropic Hypogonadism". Journal of Clinical Endocrinology & Metabolism. 84 (8): 2696–2699. doi:10.1210/jcem.84.8.5972. ISSN 0021-972X. PMID 10443662.
  2. ^ a b Cite error: The named reference US Library of Medicine Genetics Home Reference was invoked but never defined (see the help page).
  3. ^ a b Cite error: The named reference pmid:20301509 was invoked but never defined (see the help page).
  4. ^ Boehm U, Bouloux PM, Dattani MT, de Roux N, Dodé C, Dunkel L, Dwyer AA, Giacobini P, Hardelin JP, Juul A, Maghnie M, Pitteloud N, Prevot V, Raivio T, Tena-Sempere M, Quinton R, Young J (September 2015). "Expert consensus document: European Consensus Statement on congenital hypogonadotropic hypogonadism--pathogenesis, diagnosis and treatment". Nature Reviews. Endocrinology. 11 (9): 547–64. doi:10.1038/nrendo.2015.112. hdl:11567/821921. PMID 26194704.