Sudden infant death with dysgenesis of the testes syndrome
| Sudden infant death with dysgenesis of the testes syndrome | |
|---|---|
 | |
| Specialty | Medical genetics |
| Symptoms | Sudden cardiorespiratory arrest leading to death and testes dysplasia |
| Complications | Death |
| Usual onset | Early infancy |
| Duration | Rest of the infant's short lifespan |
| Causes | Genetic mutation |
| Differential diagnosis | Sudden infant death syndrome |
| Prevention | None |
| Prognosis | Bad, infants with the disorder usually die before the age of 1. |
| Frequency | very rare, only 22 cases have been described in medical literature. |
| Deaths | 22 |
Sudden infant death with dysgenesis of the testes syndrome is a very rare hereditary disorder which is characterized by sudden, deadly cardiorespiratory arrest and testes dysgenesis. This condition is most common among the Old Order Amish in Pennsylvania.[1]
Signs and symptoms[edit]
Biologically male infants with the disorder are often born with abnormally developed testes. Usually, the genitalia appears female or doesn't look either male or female. This isn't the case for biologically female infants, since they have normal reproductive organ development. Infants with this disorder also have an abnormally developed brainstem, which controls basic body functions. This often results in additional symptoms, including slow heart rate, breathing anomalies, irregular body temperature regulation, tongue and eye movement abnormalities, exaggerated startle reflex, and feeding difficulties, these symptoms usually lead to the early death characteristic of this disorder, which is often caused by cardio-respiratory arrest. An additional symptom not associated with the brainstem is the presence of an unusual cry which is unnervingly similar to the cry of a goat.[2]
Additional symptoms include severe gastroesophageal reflux and bronchial and laryngeal spasms.[3]
Causes[edit]
This condition is caused by autosomal recessive loss-of-function mutations in the TSPYL1 gene, in chromosome 6.[4][5][6]
Epidemiology[edit]
Only 22 cases have been described in medical literature, 21 of them came from 9 sibships in the Old Order Amish community in Lancaster County, Pennsylvania.[7] Only 1 of the 22 came from a non-Amish individual; a female infant with presumably consanguineous parents.[8][9]
References[edit]
- ^ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Sudden infant death dysgenesis of the testes syndrome". www.orpha.net. Retrieved 2022-06-06.
{{cite web}}: CS1 maint: numeric names: authors list (link) - ^ "Sudden infant death with dysgenesis of the testes syndrome: MedlinePlus Genetics". medlineplus.gov. Retrieved 2022-06-06.
- ^ "Sudden infant death with dysgenesis of the testes syndrome". www.uniprot.org. Retrieved 2022-06-06.
- ^ "Sudden infant death with dysgenesis of the testes syndrome - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Retrieved 2022-06-06.
- ^ Hering, Robert; Frade-Martinez, Rosario; Bajanowski, Thomas; Poets, Christian F.; Tschentscher, Frank; Riess, Olaf (January 2006). "Genetic investigation of the TSPYL1 gene in sudden infant death syndrome". Genetics in Medicine. 8 (1): 55–58. doi:10.1097/01.gim.0000195898.15290.03. ISSN 1530-0366. PMID 16418600.
- ^ Puffenberger, Erik G.; Hu-Lince, Diane; Parod, Jennifer M.; Craig, David W.; Dobrin, Seth E.; Conway, Andrew R.; Donarum, Elizabeth A.; Strauss, Kevin A.; Dunckley, Travis; Cardenas, Javier F.; Melmed, Kara R. (2004-08-10). "Mapping of sudden infant death with dysgenesis of the testes syndrome (SIDDT) by a SNP genome scan and identification of TSPYL loss of function". Proceedings of the National Academy of Sciences. 101 (32): 11689–11694. doi:10.1073/pnas.0401194101. ISSN 0027-8424. PMC 511011. PMID 15273283.
- ^ Puffenberger, Erik G.; Hu-Lince, Diane; Parod, Jennifer M.; Craig, David W.; Dobrin, Seth E.; Conway, Andrew R.; Donarum, Elizabeth A.; Strauss, Kevin A.; Dunckley, Travis; Cardenas, Javier F.; Melmed, Kara R. (2004-08-10). "Mapping of sudden infant death with dysgenesis of the testes syndrome (SIDDT) by a SNP genome scan and identification of TSPYL loss of function". Proceedings of the National Academy of Sciences of the United States of America. 101 (32): 11689–11694. doi:10.1073/pnas.0401194101. ISSN 0027-8424. PMC 511011. PMID 15273283.
- ^ Slater, Brady; Glinton, Kevin; Dai, Hongzheng; Lay, Erica; Karaviti, Lefkothea; Mizerik, Elizabeth; Murali, Chaya N.; Lalani, Seema R.; Bacino, Carlos A.; Rossetti, Linda Z. (November 2020). "Sudden infant death with dysgenesis of the testes syndrome in a non-Amish infant: A case report". American Journal of Medical Genetics. Part A. 182 (11): 2751–2754. doi:10.1002/ajmg.a.61842. ISSN 1552-4833. PMID 32885560. S2CID 221497621.
- ^ "OMIM Entry - # 608800 - Sudden infant death with dysgenesis of the testes syndrome; SIDDT". omim.org. Retrieved 2022-06-06.