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14-September-2008 18:02:46 - Kallmann syndrome Kallman syndrome Classification and external resources The structure of GNRH1 from PDB 1YY1 ICD-10 E23.0 ICD-9 253.4 OMIM 308700 147950 244200 138850 607002 DiseasesDB 7091 eMedicine med/1216 med/1342 MeSH D017436 Kallmann syndrome is an example of hypogonadism decreased functioning of the sex hormone-producing glands caused by a deficiency of gonadotropin-releasing hormone GnRH, which is created by the hypothalamus. Kallmann syndrome is also known as hypothalamic hypogonadism, familial hypogonadism with anosmia, or hypogonadotropic hypogonadism, reflecting its disease mechanism. Kallmann syndrome is a form of tertiary hypogonadism reflecting the fact the primary cause of the defect in sex hormone production lies within the pituitary and hypothalamus rather than a physical defect of the testes or ovaries themselves. Kallmann syndrome was described in 1944 by Franz Josef Kallmann, a German-American geneticist.12 However, others - such as the Spanish doctor Aureliano Maestre de San Juan - had noticed a correlation between anosmia and hypogonadism in 1856. The most well known person who has Kallmann syndrome in modern times is the jazz vocalist Jimmy Scott. In 2004, Canadian writer Brian Brett published a memoir, Uproar's Your Only Music, about growing up with Kallmann syndrome. Contents 1 Features 2 Diagnosis 3 Pathophysiology 4 Treatment 5 Epidemiology 6 Psychological Issues 7 Practical Issues 8 References 9 External links Features Kallmann syndrome is characterized by: Hypogonadotropic hypogonadism a lack of the pituitary hormones LH and FSH Congenital present from birth anosmia complete inability to smell or hyposmia decreased ability to smell It can occasionally be associated with optic problems, such as colour blindness or optic atrophy, nerve deafness, cleft palate, cryptorchidism, renal agenesis, and mirror movement disorder. However, it is not clear at this time how or if these other problems have the same cause as the hypogonadism and anosmia. These problems are more often present in those without Kallmann syndrome. Males present with delayed puberty and may have micropenis although congenital micropenis is not present in the majority of male KS cases. Females present with delayed puberty i.e. primary amenorrhea and lack of secondary sex characteristics, such as breast development. Diagnosis The diagnosis is often one of exclusion found during the workup of delayed puberty. The presence of anosmia together with micropenis in boys should suggest Kallmann syndrome although micropenis alone may have other causes. Pathophysiology Under normal conditions, GnRH travels from the hypothalamus to the pituitary gland via the hypophyseal portal system, where it triggers production and release of gonadotropins LH and FSH from the gonadotropes. When GnRH is low, the pituitary does not create the normal amount of gonadotropins. The gonadotropins normally increase the production of gonadal steroids, so when they are low, these steroids will be low as well. In Kallmann syndrome, the GnRH neurons do not migrate properly from the olfactory placode to the hypothalamus during development. The olfactory bulbs also fail to form or have hypoplasia, leading to anosmia or hyposmia. Kallmann syndrome can be inherited as an X-linked recessive trait, in which case there is a defect in the KAL1 gene, which maps to chromosome Xp22.3.3 KAL encodes a neural cell adhesion molecule, anosmin-1. Anosmin-1 is normally expressed in the brain, facial mesenchyme, mesonephros and metanephros. It is required to promote migration of GnRH neurons into the hypothalamus. It also allows migration of olfactory neurons from the olfactory bulbs to the hypothalamus. An autosomal dominant gene on chromosome 8 8p12 KAL-2 or FGFR-1 fibroblast growth factor receptor 1 is thought to cause about 10% of cases. There is some recent evidence to suggest a degree of linkage between the KAL-1 and FGFR-1 genes. An additional autosomal cause of Kallmann syndrome has been reported4 by a mutations in the prokineticin receptor-2 gene PROKR2KAL-3 at position 20p13 and its ligand prokineticin 2 PROK2KAL-4 at position 3p21.1. It was noted that mutations in these genes brought about various degrees of olfactory and reproductive dysfunction, but not the other symptoms seen in KAL-1 and KAL-2 forms of Kallmann Syndrome. The authors of the paper suggested that up to 30% of all Kallmann Syndrome cases can be linked to known genetic mutations. Treatment Treatment is directed at restoring the deficient hormones -- known as hormone therapy HT. Males are administered human chorionic gonadotropin hCG or testosterone. Females are treated with oestrogen and progestins. To induce fertility in males or females, GnRH aka LHRH is administered by an infusion pump, or hCG/hMG/FSH/LH combinations are administered through regular injections. Fertility is only maintained whilst actually being treated with these hormones. Once fertility treatment stops it is necessary to revert to the normal HRT of testosterone for men and oestrogen + progestins for women. The main health risk, for both men and women, of untreated Kallmann Syndrome is osteoporosis. Therefore, regular bone density scans every 2 years or so are advisable, even if being treated with HRT. Additional medication specifically for osteoporosis is necessary in some cases. Epidemiology Kallmann syndrome occurs at a rate of 1 in 10,000 male births and 1 in 50,000 female births. It may be inherited as an X-linked condition, an autosomal dominant condition or as an autosomal recessive condition. Statistics are sparse, but it seems that autosomal dominant is the most common form of hery. One recent paper 5 quoted an incidence in males of 0.025%, or 1 in 4,000, with the female incidence being 3 to 5 times less. Even though mutations in the KAL-1 gene on the X chromosome can cause Kallmann syndrome, only 11-14% of patients with Kallmann syndrome have detectable KAL-1 mutations. Autosomal dominant mutations have been described with the FGFR-1 8p12 gene, sometimes referred to as the KAL-2 gene. This is thought to cause about 10% of cases. However, the majority of KS cases 70% would seem to be the result of autosomal dominant genes even though the identity of those genes is not yet known. Autosomal recessive mutations of the GnRH receptor gene 4q13.2 have also been reported.5 This defect appears to produce a wider spectrum of physical symptoms than with the other gene defects, and the defect lies in the ability of the pituitary gland to recognize GnRH, rather than the ability of the hypothalamus to produce GnRH. It is debatable as to whether this is in fact Kallmann syndrome since the GnRH receptor development is not related to anosmia. There may also be no obvious family history of inheritance sporadic cases. However, it is possible for Kallmann syndrome genes to be passed on to children of a sporadic case. Psychological Issues From personal experience and from speaking to other people with Kallmann syndrome the psychological effects of having this condition can outweigh the significance of any physical symptoms. The social stigma of being left behind by your peer group at a vital stage of physical and emotional development can leave lasting damage to some people. Some people with Kallmann syndrome find it difficult to fit into social groups and may have trouble in forming relationships both on the physical and emotional level. This might be more profound in people who are diagnosed later in life. Practical Issues The lack of sense of smell may not be important when compared to the lack of sexual development it does give rise to a few situations where care should be taken. These can include: Personal hygiene. Gas leaks within the home. Fitting gas detectors within the home is recommended. Food drink spoilage. Extra care should be taken over expiry dates for food and drink. References ^ Kallmann FJ, Schönfeld WA, Barrera SE. The genetic aspects of primary eunuchoidism. Am J Ment Defic 1943-1944;48:203-236. ^ synd/2549 at Who Named It ^ MacColl G, Bouloux P, Quinton R 2002. Kallmann syndrome: adhesion, afferents, and anosmia. Neuron 34 5: 675-8. doi:10.1016/S0896-62730200720-1. PMID 12062015. ^ Dode C, et al. Kallmann syndrome: mutations in the genes encoding prokineticin-2 and prokineticin receptor-2. PLoS Genet.2: e175, 2006. ^ a b Quinton R. Topical Endocrinology 22. 15-20 External links Updated information web site on Kallmann syndrome Information web site on Kallmann's syndrome Man, 33, seeks puberty The case of Lawrence Koomson a physician who was treated for the condition as filmed in the documentary. BBC v d e Endocrine pathology: endocrine diseases E00-35, 240-259 Pancreas/ glucose metabolism Diabetes mellitus types: type 1, type 2, MODY, complications: coma, angiopathy, ketoacidosis, nephropathy, neuropathy, retinopathy Hypoglycemia - Hyperinsulinism - Zollinger-Ellison syndrome - insulin receptor Rabson-Mendenhall syndrome - Insulin resistance Hypothalamic/ pituitary axes Pituitary Hyperpituitarism Acromegaly, Hyperprolactinaemia, SIADH Hypopituitarism Sheehan's syndrome, Kallmann syndrome, Growth hormone deficiency, Diabetes insipidus Adiposogenital dystrophy - Empty sella syndrome - Pituitary apoplexy - ACTH deficiency Thyroid Hypothyroidism Iodine deficiency, Cretinism, Congenital hypothyroidism, Goitre, Myxedema Hyperthyroidism Graves disease, Toxic multinodular goitre, Teratoma with thyroid tissue or Struma ovarii Thyroiditis De Quervain's thyroiditis, Hashimoto's thyroiditis, Riedel's thyroiditis Euthyroid sick syndrome - Thyroid hormone resistance - Thyroid nodule Parathyroid Hypoparathyroidism Pseudohypoparathyroidism - Hyperparathyroidism Primary, Secondary, Tertiary Adrenal Adrenocortical hyperfunction: Cushing's syndrome Nelson's syndrome, Pseudo-Cushing's syndrome - Hyperaldosteronism Conn syndrome, Bartter syndrome CAH Lipoid, 3β, 11β, 17α, 21α Adrenal insufficiency Addison's disease, Waterhouse-Friderichsen syndrome - Hypoaldosteronism Gonads ovarian Polycystic ovary syndrome, Premature ovarian failure testicular 5-alpha-reductase deficiency, 17-beta-hydroxysteroid dehydrogenase deficiency general Hypogonadism, Delayed puberty, Precocious puberty Other Androgen insensitivity syndrome - Autoimmune polyendocrine syndrome - Carcinoid syndrome - Gigantism - Short stature Laron syndrome, Psychogenic dwarfism - Multiple endocrine neoplasia 1, 2 - Progeria - Woodhouse-Sakati syndrome - thymus Abscess of thymus, Thymus hyperplasia see also congenital, neoplasia Retrieved from http://en..org/wiki/Kallmann_syndrome Categories: Endocrinology | Syndromes | Genetic disorders Views Article Discussion this page History Personal tools Log in / create account Navigation Main page Contents Featured content Current events Random article Search Go Search Interaction Community portal Recent changes Contact Donate to Help Toolbox What links here Related changes Upload file Special pages Printable version Permanent link Cite this page Languages Deutsch Español Français Italiano עברית Nederlands Polski Suomi This page was last modified on 4 July 2008, at 00:17
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