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Sudden infant death-dysgenesis of the testes syndrome(SIDDT)

MedGen UID:
332428
Concept ID:
C1837371
Disease or Syndrome
Synonym: Sudden infant death with dysgenesis of the testes syndrome
SNOMED CT: Sudden infant death with dysgenesis of testes syndrome (711157000)
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).
 
Gene (location): TSPYL1 (6q22.1)
 
Monarch Initiative: MONDO:0012124
OMIM®: 608800
Orphanet: ORPHA168593

Definition

Sudden infant death with dysgenesis of the testes syndrome (SIDDT) is characterized by sudden cardiac or respiratory arrest, disordered testicular development, and neurologic dysfunction, and is uniformly fatal before 1 year of age (Slater et al., 2020). [from OMIM]

Additional description

From MedlinePlus Genetics
Sudden infant death with dysgenesis of the testes syndrome (SIDDT) is a rare condition that is fatal in the first year of life; its major features include abnormalities of the reproductive system in males, feeding difficulties, and breathing problems.

Infants with SIDDT who are genetically male, with one X chromosome and one Y chromosome in each cell, have underdeveloped or abnormal testes. They may also have external genitalia that appear female-typical or that do not look clearly male or clearly female. In affected infants who are genetically female, with two X chromosomes in each cell, development of the internal and external reproductive organs is normal.

SIDDT is associated with abnormal development of the brain, particularly the brainstem, which is the part of the brain that is connected to the spinal cord. The brainstem regulates many basic body functions, including heart rate, breathing, eating, and sleeping. It also relays information about movement and the senses between the brain and the rest of the body. Many features of SIDDT appear to be related to brainstem malfunction, including a slow or uneven heart rate, abnormal breathing patterns, difficulty controlling body temperature, unusual tongue and eye movements, an exaggerated startle reflex to sudden lights or loud noises, and feeding difficulties. Affected infants also have an unusual cry that has been described as similar to the bleating of a goat, which is probably a result of abnormal nerve connections between the brain and the voicebox (larynx).

The brainstem abnormalities lead to death in the first year of life, when affected infants suddenly stop breathing or their heart stops beating (cardiorespiratory arrest).  https://medlineplus.gov/genetics/condition/sudden-infant-death-with-dysgenesis-of-the-testes-syndrome

Clinical features

From HPO
Sudden death
MedGen UID:
8257
Concept ID:
C0011071
Pathologic Function
Rapid and unexpected death.
Cryptorchidism
MedGen UID:
8192
Concept ID:
C0010417
Congenital Abnormality
Cryptorchidism, or failure of testicular descent, is a common human congenital abnormality with a multifactorial etiology that likely reflects the involvement of endocrine, environmental, and hereditary factors. Cryptorchidism can result in infertility and increases risk for testicular tumors. Testicular descent from abdomen to scrotum occurs in 2 distinct phases: the transabdominal phase and the inguinoscrotal phase (summary by Gorlov et al., 2002).
Testicular dysgenesis
MedGen UID:
86232
Concept ID:
C0302885
Finding
Partial development of the penile shaft
MedGen UID:
373319
Concept ID:
C1837379
Finding
Dysplastic testes
MedGen UID:
324777
Concept ID:
C1837380
Finding
Ambiguous genitalia, male
MedGen UID:
867446
Concept ID:
C4021823
Finding
Ambiguous genitalia in an individual with XY genetic gender.
Bradycardia
MedGen UID:
140901
Concept ID:
C0428977
Finding
A slower than normal heart rate (in adults, slower than 60 beats per minute).
Growth delay
MedGen UID:
99124
Concept ID:
C0456070
Pathologic Function
A deficiency or slowing down of growth pre- and postnatally.
Feeding difficulties in infancy
MedGen UID:
436211
Concept ID:
C2674608
Finding
Impaired feeding performance of an infant as manifested by difficulties such as weak and ineffective sucking, brief bursts of sucking, and falling asleep during sucking. There may be difficulties with chewing or maintaining attention.
Gastroesophageal reflux
MedGen UID:
1368658
Concept ID:
C4317146
Finding
A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter.
Exaggerated startle response
MedGen UID:
329357
Concept ID:
C1740801
Finding
An exaggerated startle reaction in response to a sudden unexpected visual or acoustic stimulus, or a quick movement near the face.
Apnea
MedGen UID:
2009
Concept ID:
C0003578
Sign or Symptom
Lack of breathing with no movement of the respiratory muscles and no exchange of air in the lungs. This term refers to a disposition to have recurrent episodes of apnea rather than to a single event.
Laryngospasm
MedGen UID:
44071
Concept ID:
C0023066
Disease or Syndrome
A spasm (involuntary contraction) of the vocal cords that can make it difficult to speak or breathe.
Stridor
MedGen UID:
11613
Concept ID:
C0038450
Sign or Symptom
Stridor is a high pitched sound resulting from turbulent air flow in the upper airway.
Bronchoconstriction
MedGen UID:
36266
Concept ID:
C0079043
Organ or Tissue Function
Tightening of smooth muscle surrounding the bronchi and bronchioles with consequent wheezing and shortness of breath.
Cardiorespiratory arrest
MedGen UID:
154664
Concept ID:
C0600228
Pathologic Function
Cessation of breathing and/or cardiac function.
Abnormal pattern of respiration
MedGen UID:
332433
Concept ID:
C1837388
Finding
An anomaly of the rhythm or depth of breathing.
Hypothermia
MedGen UID:
5720
Concept ID:
C0020672
Finding
Reduced body temperature due to failed thermoregulation.
Abnormality of the voice
MedGen UID:
867406
Concept ID:
C4021776
Finding
Staccato cry
MedGen UID:
1376507
Concept ID:
C4476772
Finding
A type of cry that is abnormal because it is consists of unusually shortened and detached vocalizations.
Tongue fasciculations
MedGen UID:
65987
Concept ID:
C0239548
Finding
Fasciculations or fibrillation affecting the tongue muscle.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSudden infant death-dysgenesis of the testes syndrome
Follow this link to review classifications for Sudden infant death-dysgenesis of the testes syndrome in Orphanet.

Recent clinical studies

Etiology

Abualsaud D, Hashem M, AlHashem A, Alkuraya FS
Am J Med Genet A 2021 Sep;185(9):2789-2800. Epub 2020 Sep 19 doi: 10.1002/ajmg.a.61876. PMID: 32949114
Lavezzi AM, Pusiol T, Matturri L
Medicine (Baltimore) 2015 Feb;94(6):e487. doi: 10.1097/MD.0000000000000487. PMID: 25674737Free PMC Article
Schubert S, Haas C, Bartsch C, Mirshekarnejad M, Kohrs S, Roettinger I, Grosshennig A, Stuhrmann M, Scholz C, Schmidtke J
Mol Cell Probes 2015 Feb;29(1):31-4. Epub 2014 Nov 4 doi: 10.1016/j.mcp.2014.10.006. PMID: 25449952
Hering R, Frade-Martinez R, Bajanowski T, Poets CF, Tschentscher F, Riess O
Genet Med 2006 Jan;8(1):55-8. doi: 10.1097/01.gim.0000195898.15290.03. PMID: 16418600

Diagnosis

Abualsaud D, Hashem M, AlHashem A, Alkuraya FS
Am J Med Genet A 2021 Sep;185(9):2789-2800. Epub 2020 Sep 19 doi: 10.1002/ajmg.a.61876. PMID: 32949114
Slater B, Glinton K, Dai H, Lay E, Karaviti L, Mizerik E, Murali CN, Lalani SR, Bacino CA, Rossetti LZ
Am J Med Genet A 2020 Nov;182(11):2751-2754. Epub 2020 Sep 4 doi: 10.1002/ajmg.a.61842. PMID: 32885560
Hering R, Frade-Martinez R, Bajanowski T, Poets CF, Tschentscher F, Riess O
Genet Med 2006 Jan;8(1):55-8. doi: 10.1097/01.gim.0000195898.15290.03. PMID: 16418600
Rickert CH, Zahiragić L, Nolte KW, Bajanowski T, Brinkmann B, Paulus W
Acta Neuropathol 2004 Feb;107(2):119-26. Epub 2003 Nov 6 doi: 10.1007/s00401-003-0787-x. PMID: 14605833

Therapy

Lavezzi AM, Pusiol T, Matturri L
Medicine (Baltimore) 2015 Feb;94(6):e487. doi: 10.1097/MD.0000000000000487. PMID: 25674737Free PMC Article

Prognosis

Schubert S, Haas C, Bartsch C, Mirshekarnejad M, Kohrs S, Roettinger I, Grosshennig A, Stuhrmann M, Scholz C, Schmidtke J
Mol Cell Probes 2015 Feb;29(1):31-4. Epub 2014 Nov 4 doi: 10.1016/j.mcp.2014.10.006. PMID: 25449952

Clinical prediction guides

Schubert S, Haas C, Bartsch C, Mirshekarnejad M, Kohrs S, Roettinger I, Grosshennig A, Stuhrmann M, Scholz C, Schmidtke J
Mol Cell Probes 2015 Feb;29(1):31-4. Epub 2014 Nov 4 doi: 10.1016/j.mcp.2014.10.006. PMID: 25449952
Hering R, Frade-Martinez R, Bajanowski T, Poets CF, Tschentscher F, Riess O
Genet Med 2006 Jan;8(1):55-8. doi: 10.1097/01.gim.0000195898.15290.03. PMID: 16418600

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