Gonadal hypoplasia

MedGen UID:: 65992
•Concept ID:: C0239761
•: Congenital Abnormality; Finding

Synonym:	Underdeveloped gonad

HPO:	HP:0008639

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVGonadal hypoplasia

Fetal anomaly
- Congenital Systemic Disorder
  - Abnormality of the genitourinary system
    - Abnormality of the genital system
      - Abnormal reproductive system morphology
        Abnormal internal genitalia
        Gonadal hypoplasia

Conditions with this feature

DE SANCTIS-CACCHIONE SYNDROME

MedGen UID:: 75550
•Concept ID:: C0265201
•: Disease or Syndrome

A rare autosomal recessive inherited syndrome. It is characterized by xeroderma pigmentosum, mental retardation, dwarfism, hypogonadism, and neurologic abnormalities.

See: Condition Record

DE SANCTIS-CACCHIONE SYNDROME

Professional guidelines

PubMed

Diagnosis and management of precocious sexual maturation: an updated review.

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

Ovarian Aging: Molecular Mechanisms and Medical Management.

Tesarik J, Galán-Lázaro M, Mendoza-Tesarik R
Int J Mol Sci 2021 Jan 29;22(3) doi: 10.3390/ijms22031371. PMID: 33573050 Free PMC Article

Micropenis: etiology, diagnosis and treatment approaches.

Hatipoğlu N, Kurtoğlu S
J Clin Res Pediatr Endocrinol 2013;5(4):217-23. doi: 10.4274/Jcrpe.1135. PMID: 24379029 Free PMC Article

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