Absent or delayed puberty, infertility, inability to smell
Complications
Osteoporosis
Usual onset
Present at birth
Duration
Lifelong
Treatment
Hormone replacement therapy Gonadotropin therapy
Frequency
1:30,000 (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. 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.[1][2][3] 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.[1] A range of other physical symptoms affecting the face, hands and skeletal system can also occur.[2]
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.[3]
Lifelong treatment for both 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.[4]
The condition is more commonly diagnosed in males than in females.[5] 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.[6] Kallmann syndrome was first described by name in a paper published in 1944 by Franz Josef Kallmann, a German-American geneticist.[7][8] The link between anosmia and hypogonadism had already been noted by Spanish doctor Aureliano Maestre de San Juan in 1856.[9][10]
^ abCite error: The named reference US Library of Medicine Genetics Home Reference was invoked but never defined (see the help page).
^ abCite error: The named reference pmid:20301509 was invoked but never defined (see the help page).
^ abBoehm 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.
^Dunkel L, Quinton R (June 2014). "Transition in endocrinology: induction of puberty". European Journal of Endocrinology. 170 (6): R229–39. doi:10.1530/EJE-13-0894. PMID 24836550.
^Lima Amato LG, Latronico AC, Gontijo Silveira LF (June 2017). "Molecular and Genetic Aspects of Congenital Isolated Hypogonadotropic Hypogonadism". Endocrinology and Metabolism Clinics of North America. 46 (2): 283–303. doi:10.1016/j.ecl.2017.01.010. PMID 28476224.
^Laitinen EM, Vaaralahti K, Tommiska J, Eklund E, Tervaniemi M, Valanne L, Raivio T (June 2011). "Incidence, phenotypic features and molecular genetics of Kallmann syndrome in Finland". Orphanet Journal of Rare Diseases. 6 (Jun 17): 41. doi:10.1186/1750-1172-6-41. PMC 3143089. PMID 21682876.
^Kallmann FJ, Schönfeld WA, Barrera SE (1943–1944). "The genetic aspects of primary eunuchoidism". Am J Ment Defic. 48: 203–236.
^synd/2549 at Who Named It?
^Maestre de San Juan, Aureliano (1856). "Teratolagia: falta total de los nervios olfactorios con anosmia en un individuo en quien existia una atrofia congenita de los testiculos y miembro viril". El Siglo Médico. 3: 211–221.
^Cite error: The named reference Kim_2005 was invoked but never defined (see the help page).
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