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Hypogonadism with anosmia(KS)

MedGen UID:
102469
Concept ID:
C0162809
Disease or Syndrome
Synonyms: Anosmic hypogonadism; Anosmic idiopathic hypogonadotropic hypogonadism; Dysplasia olfactogenitalis of De Morsier (formerly); Hypogonadotropic hypogonadism-anosmia syndrome; Kallmann syndrome; KS
SNOMED CT: Hypogonadism with anosmia (93559003); Olfactogenital dysplasia (93559003); Anosmia eunuchoidism (93559003); Dysplasia olfactogenitalis of de Morsier (93559003); Kallman syndrome (93559003); Kallman's syndrome (93559003); Gonadotrophin deficiency with anosmia (93559003); Kallmann's syndrome (93559003)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Non-Mendelian inheritance
MedGen UID:
109109
Concept ID:
C0600599
Genetic Function
Source: Orphanet
A mode of inheritance that depends on genetic determinants in more than one gene.
X-linked recessive inheritance
MedGen UID:
375779
Concept ID:
C1845977
Finding
Source: Orphanet
A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.
 
Related genes: PROKR2, PROK2, CHD7, ANOS1, FGFR1, FGF8
 
Monarch Initiative: MONDO:0018800
OMIM®: 308700
Orphanet: ORPHA478

Disease characteristics

Isolated gonadotropin-releasing hormone (GnRH) deficiency (IGD) is characterized by inappropriately low serum concentrations of the gonadotropins LH (luteinizing hormone) and FSH (follicle-stimulating hormone) in the presence of low circulating concentrations of sex steroids. IGD is associated with a normal sense of smell (normosmic IGD) in approximately 40% of affected individuals and an impaired sense of smell (Kallmann syndrome) in approximately 60%. IGD can first become apparent in infancy, adolescence, or adulthood. Infant boys with congenital IGD often have micropenis and cryptorchidism. Adolescents and adults with IGD have clinical evidence of hypogonadism and incomplete sexual maturation on physical examination. Adult males with IGD tend to have prepubertal testicular volume (i.e., <4 mL), absence of secondary sexual features (e.g., facial and axillary hair growth, deepening of the voice), decreased muscle mass, diminished libido, erectile dysfunction, and infertility. Adult females have little or no breast development and primary amenorrhea. Although skeletal maturation is delayed, the rate of linear growth is usually normal except for the absence of a distinct pubertal growth spurt. [from GeneReviews]
Authors:
Ravikumar Balasubramanian  |  William F Crowley   view full author information

Additional description

From MedlinePlus Genetics
Kallmann syndrome is a condition characterized by delayed or absent puberty and an impaired sense of smell.

This disorder is a form of hypogonadotropic hypogonadism, which is a condition resulting from a lack of production of certain hormones that direct sexual development. These hormones are normally made in a part of the brain called the hypothalamus. Males born with hypogonadotropic hypogonadism often have an unusually small penis (micropenis) and undescended testes (cryptorchidism). At puberty, most affected individuals do not develop secondary sex characteristics, such as the growth of facial hair and deepening of the voice in males, the start of monthly periods (menstruation) and breast development in females, and a growth spurt in both sexes. Without treatment, most affected men and women are unable to have biological children (infertile).

In Kallmann syndrome, the sense of smell is either diminished (hyposmia) or completely absent (anosmia). This feature distinguishes Kallmann syndrome from most other forms of hypogonadotropic hypogonadism, which do not affect the sense of smell. Many people with Kallmann syndrome are not aware that they are unable to detect odors until the impairment is discovered through testing.

Kallmann syndrome can have a wide variety of additional signs and symptoms. These include a failure of one kidney to develop (unilateral renal agenesis), abnormalities of bones in the fingers or toes, a cleft lip with or without an opening in the roof of the mouth (a cleft palate), abnormal eye movements, hearing loss, and abnormalities of tooth development. Some affected individuals have a feature called bimanual synkinesis, in which the movements of one hand are mirrored by the other hand. Bimanual synkinesis can make it difficult to do tasks that require the hands to move separately, such as playing a musical instrument.  https://medlineplus.gov/genetics/condition/kallmann-syndrome

Professional guidelines

PubMed

Stamou MI, Georgopoulos NA
Metabolism 2018 Sep;86:124-134. Epub 2017 Nov 3 doi: 10.1016/j.metabol.2017.10.012. PMID: 29108899Free PMC Article

Recent clinical studies

Etiology

Barraud S, Delemer B, Poirsier-Violle C, Bouligand J, Mérol JC, Grange F, Higel-Chaufour B, Decoudier B, Zalzali M, Dwyer AA, Acierno JS, Pitteloud N, Millar RP, Young J
Neuroendocrinology 2021;111(1-2):99-114. Epub 2020 Feb 20 doi: 10.1159/000506640. PMID: 32074614

Diagnosis

Barraud S, Delemer B, Poirsier-Violle C, Bouligand J, Mérol JC, Grange F, Higel-Chaufour B, Decoudier B, Zalzali M, Dwyer AA, Acierno JS, Pitteloud N, Millar RP, Young J
Neuroendocrinology 2021;111(1-2):99-114. Epub 2020 Feb 20 doi: 10.1159/000506640. PMID: 32074614
Yu X, Lin Y, Wu H
Neural Plast 2020;2020:8860837. Epub 2020 Aug 28 doi: 10.1155/2020/8860837. PMID: 32908489Free PMC Article
Stamou MI, Georgopoulos NA
Metabolism 2018 Sep;86:124-134. Epub 2017 Nov 3 doi: 10.1016/j.metabol.2017.10.012. PMID: 29108899Free PMC Article
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Am J Dis Child 1977 Nov;131(11):1216-9. doi: 10.1001/archpedi.1977.02120240034007. PMID: 335879

Therapy

Guitelman A, Mancini AM, Aparicio NJ, Tropea L, Levalle O, Schally AV
Fertil Steril 1979 Sep;32(3):308-11. doi: 10.1016/s0015-0282(16)44239-1. PMID: 385362
Merriam GR, Beitins IZ, Bode HH
Am J Dis Child 1977 Nov;131(11):1216-9. doi: 10.1001/archpedi.1977.02120240034007. PMID: 335879
Schroffner WG, Furth ED
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Prognosis

Barraud S, Delemer B, Poirsier-Violle C, Bouligand J, Mérol JC, Grange F, Higel-Chaufour B, Decoudier B, Zalzali M, Dwyer AA, Acierno JS, Pitteloud N, Millar RP, Young J
Neuroendocrinology 2021;111(1-2):99-114. Epub 2020 Feb 20 doi: 10.1159/000506640. PMID: 32074614
Zhang Q, He HH, Janjua MU, Wang F, Yang YB, Mo ZH, Liu J, Jin P
Andrologia 2020 Aug;52(7):e13594. Epub 2020 May 12 doi: 10.1111/and.13594. PMID: 32400067
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Clinical prediction guides

Barraud S, Delemer B, Poirsier-Violle C, Bouligand J, Mérol JC, Grange F, Higel-Chaufour B, Decoudier B, Zalzali M, Dwyer AA, Acierno JS, Pitteloud N, Millar RP, Young J
Neuroendocrinology 2021;111(1-2):99-114. Epub 2020 Feb 20 doi: 10.1159/000506640. PMID: 32074614
Zhang Q, He HH, Janjua MU, Wang F, Yang YB, Mo ZH, Liu J, Jin P
Andrologia 2020 Aug;52(7):e13594. Epub 2020 May 12 doi: 10.1111/and.13594. PMID: 32400067
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Guitelman A, Mancini AM, Aparicio NJ, Tropea L, Levalle O, Schally AV
Fertil Steril 1979 Sep;32(3):308-11. doi: 10.1016/s0015-0282(16)44239-1. PMID: 385362

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