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Encyclopedia > Kallmann syndrome
Kallmann syndrome
ICD-10 E23.0
ICD-9 253.4

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 gonadotropic hypogonadism, reflecting its disease mechanism. The following codes are used with International Statistical Classification of Diseases and Related Health Problems. ... The following is a list of codes for International Statistical Classification of Diseases and Related Health Problems. ... Hypogonadism is a medical term for a defect of the reproductive system which results in lack of function of the gonads (ovaries or testes). ... Gonadotropin-releasing hormone 1 (GNRH1 also called LHRH) is a peptide hormone responsible for the release of FSH and LH from the anterior pituitary. ... In the anatomy of mammals, the hypothalamus is a region of the brain located below the thalamus, forming the major portion of the ventral region of the diencephalon and functioning to regulate certain metabolic processes and other autonomic activities. ... In the anatomy of mammals, the hypothalamus is a region of the brain located below the thalamus, forming the major portion of the ventral region of the diencephalon and functioning to regulate certain metabolic processes and other autonomic activities. ... Hypogonadism is a medical term for a defect of the reproductive system which results in lack of function of the gonads (ovaries or testes). ... Anosmia is the lack of olfaction, or a loss of the sense of smell. ... Gonadotropins are protein hormones secreted by gonadotrope cells of the pituitary gland of vertebrates. ... Hypogonadism is a medical term for a defect of the reproductive system which results in lack of function of the gonads (ovaries or testes). ...


Kallman syndrome was described in 1944 by Franz Josef Kallmann, a German geneticist. However, others - such as the Spanish doctor Aureliano Maestre de San Juan - had noticed a correlation between anosmia and hypogonadism 80 years previously. 1944 (MCMXLIV) was a leap year starting on Saturday (the link is to a full 1944 calendar). ... Franz Josef Kallmann (July 24, 1897 Neumarkt, Silesia – May 12, 1965 New York), a German-born American psychiatrist, was one of the pioneers in the study of the genetic basis of psychiatric disorders. ... Look up geneticist in Wiktionary, the free dictionary. ...

Contents


Features

Kallmann syndrome is characterized by:

It can also be associated with optic problems, such as color 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). Hypogonadism is a medical term for a defect of the reproductive system which results in lack of function of the gonads (ovaries or testes). ... The pituitary gland, or hypophysis, is an endocrine gland about the size of a pea that sits in the small, bony cavity (sella turcica) at the base of the brain. ... To meet Wikipedias quality standards, this article or section may require cleanup. ... Follicle stimulating hormone (FSH) is a hormone produced by gonadotropes in the anterior pituitary gland. ... Anosmia is the lack of olfaction, or a loss of the sense of smell. ... Color blindness in humans is the inability to perceive differences between some or all colors that other people can distinguish. ... Cryptorchidism is a medical term referring to absence from the scrotum of one or both testes. ... The absence of one (unilateral) or both (bilateral) kidneys at birth. ... Micropenis is a medical term that describes an unusually small penis in a human male. ...


Females present with delayed puberty (i.e. primary amenorrhea) and lack of secondary sex characteristics, such as breast development. A peafowl displays its secondary sexual characteristics (long, colored feathers). ... Thelarche is the first stage of human breast development, usually occurring at the beginning of puberty in girls. ...


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 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. The pituitary gland, or hypophysis, is an endocrine gland about the size of a pea that sits in the small, bony cavity (sella turcica) at the base of the brain. ... The hypophyseal portal system is the system of blood vessels that supplies blood to part of the hypothalamus and the anterior pituitary (also called the adenohypophysis) and allows endocrine communication between the two structures. ... Gonadotropins are protein hormones secreted by gonadotrope cells of the pituitary gland of vertebrates. ... To meet Wikipedias quality standards, this article or section may require cleanup. ... Follicle stimulating hormone (FSH) is a hormone produced by gonadotropes in the anterior pituitary gland. ... Gonadotropes are cells in the anterior pituitary which produce the gonadotropins luteinizing hormone or follicle-stimulating hormone. ... A sex steroid is a steroid hormone which interacts with vertebrate androgen or estrogen receptors. ...


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.


Kallman 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. 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. The KAL1 gene is a human gene which is located on the X chromosome at Xp22. ... Anosmin-1 is a protein found in humans and other organisms which is responsible for normal development. ... Comparative brain sizes In animals, the brain, or encephalon (Greek for in the head), is the control center of the central nervous system. ... The face of Leonardo da Vincis Mona Lisa, one of the most recognized faces in the world A human face The face is the front part of the head, in humans from forehead to chin including the head, hair, forehead, eyebrow, eyes, nose, cheek, mouth, lips, teeth, skin, and... Mesenchyme (also known as embryonic connective tissue) is the mass of tissue that develops mainly from the mesoderm (the middle layer of the trilaminar germ disc) of an embryo. ... The mesonephros (Latin for middle kidney) is one of three excretory organs that develop in vertebrates. ... Human kidneys viewed from behind with spine removed The kidneys are bean-shaped excretory organs in vertebrates. ... Gonadotropin Releasing Hormone (GnRH) is a peptide hormone responsible for the release of FSH and LH from the anterior pituitary. ... In the anatomy of mammals, the hypothalamus is a region of the brain located below the thalamus, forming the major portion of the ventral region of the diencephalon and functioning to regulate certain metabolic processes and other autonomic activities. ...


Treatment

Treatment is directed at restoring the deficient hormones -- known as hormone replacement therapy (HRT). Males are administered human chorionic gonadotropin (hCG) or testosterone. Females are treated with oestrogen and progestins. Hormone replacement therapy (HRT) is a system of medical treatment for perimenopausal and postmenopausal women, based on the assumption that it may prevent discomfort and health problems caused by diminished circulating estrogen hormones. ... Human chorionic gonadotropin (hCG) is a peptide hormone produced in pregnancy, that is made by the embryo soon after conception and later by the trophoblast (part of the placenta). ... Testosterone is a steroid hormone from the androgen group. ... Estrogens (or oestrogens) are a group of steroid compounds that function as the primary female sex hormone. ... A progestin is a synthetic progestagen. ...


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. An infusion pump or perfusor infuses fluids, medication or nutrients into a patients circulatory system. ...


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. Osteoporosis is a disease of bone in which bone mineral density (BMD) is reduced, bone microarchitecture is disrupted, and the amount and variety of non-collagenous proteins in bone is changed. ...


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 heredity.


Even though mutations in the KAL gene on the X chromosome can cause Kallmann syndrome, only 11-14% of patients with Kallmann syndrome have detectable KAL mutations. Mutations in autosomal gene FGFR1 have been found in some cases. As yet no recessive gene has been identified.


There may also be no obvious family history of inheritance (sporadic cases). However, it is possible for Kallmann's gene(s) to be passed on to children of a sporadic case.


Resources

  • Kallmann FJ, Schönfeld WA, Barrera SE. The genetic aspects of primary eunuchoidism. Am J Ment Defic 1943-1944;48:203-236.
  • OMIM 308700 (Kallmann syndrome 1), OMIM 147950 (Kallmann syndrome 2)
  • Kallmann's Syndrome Mailing List

The Mendelian Inheritance in Man project is a database that catalogues all the known diseases with a genetic component, and - when possible - links them to the relevant genes in the human genome. ... The Mendelian Inheritance in Man project is a database that catalogues all the known diseases with a genetic component, and - when possible - links them to the relevant genes in the human genome. ...

External links

  • Man, 33, seeks puberty (BBC)

 
 

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