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46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome(GDMN)

MedGen UID:
1727162
•Concept ID:
C5436061
•
Disease or Syndrome
Synonyms: 46,XY GONADAL DYSGENESIS WITH MINIFASCICULAR NEUROPATHY; 46,XY gonadal dysgenesis, partial, with minifascicular neuropathy
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 recessive inheritance (Orphanet)
 
Gene (location): DHH (12q13.12)
 
Monarch Initiative: MONDO:0011766
OMIM®: 607080
Orphanet: ORPHA168563

Definition

46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome is a rare, genetic, developmental defect during embryogenesis disorder characterized by partial (unilateral testis, persistence of Müllerian duct structures) or complete (streak gonads only) gonadal dysgenesis, usually manifesting with primary amenorrhea in individuals with female phenotype but 46,XY karyotype, and sensorimotor dysmyelinating minifascicular polyneuropathy, which presents with numbness, weakness, exercise-induced muscle cramps, sensory disturbances and reduced/absent deep tendon reflexes. Germ cell tumors (seminoma, dysgerminoma, gonadoblastoma) may develop from the gonadal tissue. [from ORDO]

Clinical features

From HPO
Gonadal dysgenesis
MedGen UID:
9075
•Concept ID:
C0018051
•
Congenital Abnormality
A congenital disorder characterized by the presence of extremely hypoplastic gonads preventing the development of secondary sex characteristics.
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Primary amenorrhea
MedGen UID:
115918
•Concept ID:
C0232939
•
Disease or Syndrome
Abnormally late or absent menarche in a female with normal secondary sexual characteristics.
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Polyneuropathy
MedGen UID:
57502
•Concept ID:
C0152025
•
Disease or Syndrome
A generalized disorder of peripheral nerves.
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Hyporeflexia
MedGen UID:
195967
•Concept ID:
C0700078
•
Finding
Reduction of neurologic reflexes such as the knee-jerk reaction.
See: Feature record | Search on this feature
Impaired distal vibration sensation
MedGen UID:
381262
•Concept ID:
C1853767
•
Finding
A decrease in the ability to perceive vibration in the distal portions of the limbs.
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Decreased number of peripheral myelinated nerve fibers
MedGen UID:
346872
•Concept ID:
C1858285
•
Finding
A loss of myelinated nerve fibers in the peripheral nervous system (in general, this finding can be observed on nerve biopsy).
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Impaired distal tactile sensation
MedGen UID:
867225
•Concept ID:
C4021583
•
Finding
A reduced sense of touch (tactile sensation) on the skin of the distal limbs. This is usually tested with a wisp of cotton or a fine camel's hair brush, by asking patients to say 'now' each time they feel the stimulus.
See: Feature record | Search on this feature
Hypergonadotropic hypogonadism
MedGen UID:
184926
•Concept ID:
C0948896
•
Disease or Syndrome
Reduced function of the gonads (testes in males or ovaries in females) associated with excess pituitary gonadotropin secretion and resulting in delayed sexual development and growth delay.
See: Feature record | Search on this feature
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGV46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome

Recent clinical studies

Diagnosis

New observations on minifascicular neuropathy with sex-dependent gonadal dysgenesis: a case series with nerve ultrasound assessment.
Brito LA, Nóbrega PR, Dias DA, Barreto ARF, Freitas HC, Kok F, Rodrigues CL
Neurol Sci 2023 Oct;44(10):3691-3696. Epub 2023 May 4 doi: 10.1007/s10072-023-06792-y. PMID: 37140833
Convergent pathological and ultrasound features in hereditary syndromic and non-syndromic minifascicular neuropathy related to DHH.
Boso F, Zanette G, Baldinotti F, Bertelloni S, Taioli F, Monaco S, Fabrizi GM, Cavallaro T
J Peripher Nerv Syst 2020 Dec;25(4):423-428. Epub 2020 Nov 4 doi: 10.1111/jns.12417. PMID: 33107133

Prognosis

Convergent pathological and ultrasound features in hereditary syndromic and non-syndromic minifascicular neuropathy related to DHH.
Boso F, Zanette G, Baldinotti F, Bertelloni S, Taioli F, Monaco S, Fabrizi GM, Cavallaro T
J Peripher Nerv Syst 2020 Dec;25(4):423-428. Epub 2020 Nov 4 doi: 10.1111/jns.12417. PMID: 33107133

Clinical prediction guides

New observations on minifascicular neuropathy with sex-dependent gonadal dysgenesis: a case series with nerve ultrasound assessment.
Brito LA, Nóbrega PR, Dias DA, Barreto ARF, Freitas HC, Kok F, Rodrigues CL
Neurol Sci 2023 Oct;44(10):3691-3696. Epub 2023 May 4 doi: 10.1007/s10072-023-06792-y. PMID: 37140833
Convergent pathological and ultrasound features in hereditary syndromic and non-syndromic minifascicular neuropathy related to DHH.
Boso F, Zanette G, Baldinotti F, Bertelloni S, Taioli F, Monaco S, Fabrizi GM, Cavallaro T
J Peripher Nerv Syst 2020 Dec;25(4):423-428. Epub 2020 Nov 4 doi: 10.1111/jns.12417. PMID: 33107133

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