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Gonadal hypoplasia

MedGen UID:
Concept ID:
Congenital Abnormality; Finding
Synonym: Underdeveloped gonad
HPO: HP:0008639

Term Hierarchy

Conditions with this feature

MedGen UID:
Concept ID:
Disease or Syndrome
A rare autosomal recessive inherited syndrome. It is characterized by xeroderma pigmentosum, mental retardation, dwarfism, hypogonadism, and neurologic abnormalities.

Professional guidelines


Cheuiche AV, da Silveira LG, de Paula LCP, Lucena IRS, Silveiro SP
Eur J Pediatr 2021 Oct;180(10):3073-3087. Epub 2021 Mar 21 doi: 10.1007/s00431-021-04022-1. PMID: 33745030
Tesarik J, Galán-Lázaro M, Mendoza-Tesarik R
Int J Mol Sci 2021 Jan 29;22(3) doi: 10.3390/ijms22031371. PMID: 33573050Free PMC Article
Hatipoğlu N, Kurtoğlu S
J Clin Res Pediatr Endocrinol 2013;5(4):217-23. doi: 10.4274/Jcrpe.1135. PMID: 24379029Free PMC Article

Recent clinical studies


Hudson R, Laska M, Berger T, Heye B, Schopohl J, Danek A
Chem Senses 1994 Feb;19(1):57-69. doi: 10.1093/chemse/19.1.57. PMID: 8055259


Niwa A, Naito Y, Kuzuhara S
Intern Med 2008;47(21):1925-9. Epub 2008 Nov 4 doi: 10.2169/internalmedicine.47.1365. PMID: 18981639
László J, Györy G, Szilágyi G
Obstet Gynecol 1968 Feb;31(2):157-65. doi: 10.1097/00006250-196802000-00002. PMID: 5644246

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