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Testes, rudimentary

MedGen UID:
336448
•Concept ID:
C1848901
•
Anatomical Abnormality
Synonym: TESTES, RUDIMENTARY
 
Monarch Initiative: MONDO:0010106
OMIM®: 273150

Clinical features

From HPO
Decreased testicular size
MedGen UID:
66027
•Concept ID:
C0241355
•
Finding
Reduced volume of the testicle (the male gonad).
See: Feature record | Search on this feature
Hypoplastic male external genitalia
MedGen UID:
338952
•Concept ID:
C1852534
•
Finding
Underdevelopment of part or all of the male external reproductive organs (which include the penis, the scrotum and the urethra).
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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Professional guidelines

PubMed

45,X/46,XY mosaicism: contrast of prenatal and postnatal diagnosis.
Wheeler M, Peakman D, Robinson A, Henry G
Am J Med Genet 1988 Mar;29(3):565-71. doi: 10.1002/ajmg.1320290314. PMID: 3376999

Recent clinical studies

Etiology

Case Report of Male Pseudohermaphroditism (Androgen Insensitivity Syndrome): Congenital Disorder of Sexual Differentiation.
Patel K, Dessi D, Trivedi S
J Assoc Physicians India 2023 Jan;71(1):1. PMID: 37116050
Partial androgen insensitivity syndrome in a 68-year-old patient.
Sezgin T, Dönmez Mİ, Dirican A, Deniz İ, Savut B
Endocr J 2019 Jun 28;66(6):575-577. Epub 2019 Mar 28 doi: 10.1507/endocrj.EJ18-0578. PMID: 30918167
Groin and scrotal swellings in children aged 5 years and below: a review of 535 cases.
Abantanga FA
Pediatr Surg Int 2003 Aug;19(6):446-50. Epub 2003 May 14 doi: 10.1007/s00383-002-0939-4. PMID: 12750933
Androgens and male physiology the syndrome of 5alpha-reductase-2 deficiency.
Imperato-McGinley J, Zhu YS
Mol Cell Endocrinol 2002 Dec 30;198(1-2):51-9. doi: 10.1016/s0303-7207(02)00368-4. PMID: 12573814
Monorchidism or unilateral anorchidism.
Lamesch AJ
Langenbecks Arch Chir 1994;379(2):105-8. PMID: 7910927

Diagnosis

Persistent Müllerian Duct Syndrome Diagnosed Incidentally: A Case Report.
Fatima N, Kiran Z, Shabbir KU, Baloch AA
J Pak Med Assoc 2023 Nov;73(11):2280-2283. doi: 10.47391/JPMA.9172. PMID: 38013548
Partial androgen insensitivity syndrome in a 68-year-old patient.
Sezgin T, Dönmez Mİ, Dirican A, Deniz İ, Savut B
Endocr J 2019 Jun 28;66(6):575-577. Epub 2019 Mar 28 doi: 10.1507/endocrj.EJ18-0578. PMID: 30918167
Male and female aphallia associated with severe urinary tract dysplasia.
Friedman AA, Zelkovic PF, Reda EF, Franco I, Palmer LS
J Pediatr Urol 2016 Aug;12(4):268.e1-7. Epub 2016 Jun 11 doi: 10.1016/j.jpurol.2016.04.040. PMID: 27522318
Testicular regression syndrome.
Coulam CB
Obstet Gynecol 1979 Jan;53(1):44-9. PMID: 569795
Mixed gonadal dysgenesis.
Zäh W, Kalderon AE, Tucci JR
Acta Endocrinol Suppl (Copenh) 1975;197:1-39. PMID: 1094776

Therapy

Androgens and male physiology the syndrome of 5alpha-reductase-2 deficiency.
Imperato-McGinley J, Zhu YS
Mol Cell Endocrinol 2002 Dec 30;198(1-2):51-9. doi: 10.1016/s0303-7207(02)00368-4. PMID: 12573814
Gender identity reversal in an adolescent with mixed gonadal dysgenesis.
Birnbacher R, Marberger M, Weissenbacher G, Schober E, Frisch H
J Pediatr Endocrinol Metab 1999 Sep-Oct;12(5):687-90. doi: 10.1515/jpem.1999.12.5.687. PMID: 10703543
Pediatric laparoscopy for nonpalpable testes with new miniaturized instruments.
Humke U, Siemer S, Bonnet L, Ziegler M
J Endourol 1998 Oct;12(5):445-50. doi: 10.1089/end.1998.12.445. PMID: 9847068
Congenital bilateral anorchia in childhood: a clinical, endocrine and therapeutic evaluation of twenty-one cases.
Aynsley-Green A, Zachmann M, Illig R, Rampini S, Prader A
Clin Endocrinol (Oxf) 1976 Jul;5(4):381-91. doi: 10.1111/j.1365-2265.1976.tb01966.x. PMID: 786507
On round-headed human spermatozoa.
Kullander S, Rausing A
Int J Fertil 1975;20(1):33-40. PMID: 4383

Prognosis

Enhancer of the rudimentary gene homologue (ERH) expression pattern in sporadic human breast cancer and normal breast tissue.
Zafrakas M, Losen I, Knüchel R, Dahl E
BMC Cancer 2008 May 23;8:145. doi: 10.1186/1471-2407-8-145. PMID: 18500978Free PMC Article
Phenotype characteristics of transgenic male mice expressing human aromatase under ubiquitin C promoter.
Li X, Mäkelä S, Streng T, Santti R, Poutanen M
J Steroid Biochem Mol Biol 2003 Sep;86(3-5):469-76. doi: 10.1016/s0960-0760(03)00376-5. PMID: 14623546
Monorchidism or unilateral anorchidism.
Lamesch AJ
Langenbecks Arch Chir 1994;379(2):105-8. PMID: 7910927
Observations and reflections on the immature stages of Onchocerca volvulus in the human host.
Duke BO
Ann Trop Med Parasitol 1991 Feb;85(1):103-10. doi: 10.1080/00034983.1991.11812536. PMID: 1888206
45,X/46,XY mosaicism: contrast of prenatal and postnatal diagnosis.
Wheeler M, Peakman D, Robinson A, Henry G
Am J Med Genet 1988 Mar;29(3):565-71. doi: 10.1002/ajmg.1320290314. PMID: 3376999

Clinical prediction guides

Phenotype characteristics of transgenic male mice expressing human aromatase under ubiquitin C promoter.
Li X, Mäkelä S, Streng T, Santti R, Poutanen M
J Steroid Biochem Mol Biol 2003 Sep;86(3-5):469-76. doi: 10.1016/s0960-0760(03)00376-5. PMID: 14623546
Altered structure and function of reproductive organs in transgenic male mice overexpressing human aromatase.
Li X, Nokkala E, Yan W, Streng T, Saarinen N, Wärri A, Huhtaniemi I, Santti R, Mäkelä S, Poutanen M
Endocrinology 2001 Jun;142(6):2435-42. doi: 10.1210/endo.142.6.8211. PMID: 11356692
Observations and reflections on the immature stages of Onchocerca volvulus in the human host.
Duke BO
Ann Trop Med Parasitol 1991 Feb;85(1):103-10. doi: 10.1080/00034983.1991.11812536. PMID: 1888206
Rudimentary testes syndrome revisited.
Acquafredda A, Vassal J, Job JC
Pediatrics 1987 Aug;80(2):209-14. PMID: 3112728
Improved culture of Fasciola hepatica in vitro.
Smith MA, Clegg JA
Z Parasitenkd 1981;66(1):9-15. doi: 10.1007/BF00941940. PMID: 7198848

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