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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).
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).
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.

Professional guidelines

PubMed

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

Patel K, Dessi D, Trivedi S
J Assoc Physicians India 2023 Jan;71(1):1. PMID: 37116050
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
Abantanga FA
Pediatr Surg Int 2003 Aug;19(6):446-50. Epub 2003 May 14 doi: 10.1007/s00383-002-0939-4. PMID: 12750933
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
Lamesch AJ
Langenbecks Arch Chir 1994;379(2):105-8. PMID: 7910927

Diagnosis

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
Patel K, Dessi D, Trivedi S
J Assoc Physicians India 2023 Jan;71(1):1. PMID: 37116050
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
Coulam CB
Obstet Gynecol 1979 Jan;53(1):44-9. PMID: 569795
Zäh W, Kalderon AE, Tucci JR
Acta Endocrinol Suppl (Copenh) 1975;197:1-39. PMID: 1094776

Therapy

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
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
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
Tuch BE, Kidson WJ, Milroy BC, Kern IB, Steinbeck AW
Med J Aust 1979 Jul 28;2(2):93-6. doi: 10.5694/j.1326-5377.1979.tb112742.x. PMID: 573846
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

Prognosis

Adachi M, Fukami M, Kagami M, Sho N, Yamazaki Y, Tanaka Y, Asakura Y, Hanakawa J, Muroya K
J Pediatr Endocrinol Metab 2019 Feb 25;32(2):191-196. doi: 10.1515/jpem-2018-0464. PMID: 30676999
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
Lamesch AJ
Langenbecks Arch Chir 1994;379(2):105-8. PMID: 7910927
Duke BO
Ann Trop Med Parasitol 1991 Feb;85(1):103-10. doi: 10.1080/00034983.1991.11812536. PMID: 1888206
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

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
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
Duke BO
Ann Trop Med Parasitol 1991 Feb;85(1):103-10. doi: 10.1080/00034983.1991.11812536. PMID: 1888206
Acquafredda A, Vassal J, Job JC
Pediatrics 1987 Aug;80(2):209-14. PMID: 3112728
Smith MA, Clegg JA
Z Parasitenkd 1981;66(1):9-15. doi: 10.1007/BF00941940. PMID: 7198848

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