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Isolated congenital hypogonadotropic hypogonadism

MedGen UID:
1842176
Concept ID:
C5679849
Disease or Syndrome
Synonym: IDIOPATHIC HYPOGONADOTROPIC HYPOGONADISM
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.
Oligogenic inheritance
MedGen UID:
253949
Concept ID:
C1136026
Genetic Function
Source: Orphanet
A type of multifactorial inheritance governed by the simultaneous action of a few gene loci. It is recommended this term be used for traits governed by three loci, although it is noted that usage of this term in the literature is not uniform.
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.
Unknown inheritance
MedGen UID:
989040
Concept ID:
CN307042
Finding
Source: Orphanet
Hereditary clinical entity whose mode of inheritance is unknown.
 
Monarch Initiative: MONDO:0016553
Orphanet: ORPHA238666

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

Professional guidelines

PubMed

Nair S, Jadhav S, Lila A, Jagtap V, Bukan A, Pandit R, Ekbote A, Dharmalingam M, Kumar P, Kalra P, Gandhi P, Walia R, Sankhe S, Raghavan V, Shivane V, Menon P, Bandgar T, Shah N
Clin Endocrinol (Oxf) 2016 Jul;85(1):100-9. Epub 2016 Feb 12 doi: 10.1111/cen.13009. PMID: 26708526

Recent clinical studies

Etiology

Kallali W, Messiaen C, Saïdi R, Lessim S, Viaud M, Dulon J, Nedelcu M, Samara D, Houang M, Donadille B, Courtillot C, de Filippo G, Carel JC, Christin-Maitre S, Touraine P, Netchine I, Polak M, Léger J
Orphanet J Rare Dis 2021 Nov 4;16(1):469. doi: 10.1186/s13023-021-02099-3. PMID: 34736502Free PMC Article

Diagnosis

Camacho M, Castelo-Branco C
Reprod Sci 2022 Oct;29(10):2859-2863. Epub 2022 Feb 23 doi: 10.1007/s43032-022-00897-z. PMID: 35199317Free PMC Article
Kallali W, Messiaen C, Saïdi R, Lessim S, Viaud M, Dulon J, Nedelcu M, Samara D, Houang M, Donadille B, Courtillot C, de Filippo G, Carel JC, Christin-Maitre S, Touraine P, Netchine I, Polak M, Léger J
Orphanet J Rare Dis 2021 Nov 4;16(1):469. doi: 10.1186/s13023-021-02099-3. PMID: 34736502Free PMC Article

Therapy

Ulloa-Aguirre A, Lira-Albarrán S
Prog Mol Biol Transl Sci 2016;143:121-174. Epub 2016 Sep 13 doi: 10.1016/bs.pmbts.2016.08.003. PMID: 27697201

Clinical prediction guides

Kallali W, Messiaen C, Saïdi R, Lessim S, Viaud M, Dulon J, Nedelcu M, Samara D, Houang M, Donadille B, Courtillot C, de Filippo G, Carel JC, Christin-Maitre S, Touraine P, Netchine I, Polak M, Léger J
Orphanet J Rare Dis 2021 Nov 4;16(1):469. doi: 10.1186/s13023-021-02099-3. PMID: 34736502Free PMC Article

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