Kallmann syndrome
| Kallmann syndrome | |
|---|---|
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| The structure of GNRH1 (from PDB: 1YY1) |
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| Classification and external resources | |
| Specialty | endocrinology |
| ICD-10 | E23.0 |
| ICD-9-CM | 253.4 |
| OMIM | 308700 147950 244200 138850 607002 146110 136350 615271 615270 614880 1527600 162330 164160 608137 608892 300473 603286 613301 604808 603725 606807 602748607984 |
| DiseasesDB | 7091 |
| eMedicine | med/1216 med/1342 |
| MeSH | D017436 |
Kallmann syndrome is a rare genetic condition that is characterized by a failure to start or a failure to complete puberty. It is also accompanied by a lack of sense of smell (anosmia) or a highly reduced sense of smell (hyposmia). The condition can occur in both males and females but is more commonly diagnosed in males. Left untreated, patients with Kallmann syndrome will almost invariably be infertile.
Kallmann syndrome occurs due to a failure of the hypothalamus to release GnRH at the appropriate time as a result of the GnRH releasing neurones not migrating into the correct location during embryonic development.
Kallmann syndrome is a form of hypogonadotropic hypogonadism (HH). Approximately 50% of HH cases occur with no sense of smell and are classified as Kallmann syndrome. Apart from the sense of smell there is no difference in the diagnosis or treatment between a case of HH or a case of Kallmann syndrome.
The terminology used when describing cases of HH can vary. The term congenital hypogonadotropic hypogonadism (CHH) is now often used. Other terms used include idiopathic / isolated hypogonadotropic hypogonadism (IHH), normosmic hypogonadotropic hypogonadism (nHH) or hypothalamic hypogonadism. The term HH can be used to cover all cases, including Kallmann syndrome.
The term isolated GnRH deficiency (IGD) has increasingly been used to describe this group of conditions as it highlights the primary cause of these conditions and distinguishes them from other conditions such as Klinefelter syndrome or Turner syndrome which share some similar symptoms but have a totally different etiology.
The term hypogonadism describes a low level of circulating sex hormones; testosterone in males and estrogen and progesterone in females. Hypogonadism can occur through a number of different methods. The use of the term hypogonadotropic relates to the fact that the hypogonadism found in HH is caused by a disruption in the production of the gonadotropin hormones normally released by the anterior pituitary gland known as luteinising hormone (LH) and follicle stimulating hormone (FSH).
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