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Abnormal sex determination

MedGen UID:: 868597
•Concept ID:: C4022996
•: Anatomical Abnormality

HPO:	HP:0012244

Definition

Anomaly of primary or secondary sexual development or characteristics. [from HPO]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

Abnormal sex determination

Abnormality of prenatal development or birth
- Fetal anomaly
  - Congenital Systemic Disorder
    - Abnormality of the genitourinary system
      - Abnormality of the genital system
        Abnormal reproductive system morphology
        Abnormal sex determination
        Sex reversal

Professional guidelines

PubMed

Caring for individuals with a difference of sex development (DSD): a Consensus Statement.

Cools M, Nordenström A, Robeva R, Hall J, Westerveld P, Flück C, Köhler B, Berra M, Springer A, Schweizer K, Pasterski V; COST Action BM1303 working group 1
Nat Rev Endocrinol 2018 Jul;14(7):415-429. doi: 10.1038/s41574-018-0010-8. PMID: 29769693 Free PMC Article

Newborn screening of congenital adrenal hyperplasia.

Dulín Iñiguez E, Ezquieta Zubicaray B
Endocrinol Diabetes Nutr (Engl Ed) 2018 Jan;65(1):1-4. Epub 2017 Dec 11 doi: 10.1016/j.endinu.2017.11.001. PMID: 29241677

Pre-implantation genetic testing.

Grace J, El Toukhy T, Braude P
BJOG 2004 Nov;111(11):1165-73. doi: 10.1111/j.1471-0528.2004.00440.x. PMID: 15521860

Recent clinical studies

Etiology

Genetic studies in cases of abnormal sex determination and differentiation.

Boczkowski K
Pol Med Sci Hist Bull 1969 Oct;12(4):168-72. PMID: 5406893

Diagnosis

Study of H-Y antigen in abnormal sex determination with monoclonal antibody and an ELISA.

Moreira-Filho CA, Wachtel SS
Am J Med Genet 1985 Mar;20(3):525-34. doi: 10.1002/ajmg.1320200313. PMID: 3993678

Supplemental Content

Table of contents

Clinical resources

ClinicalTrials.gov

Practice guidelines

PubMed
See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
Bookshelf
See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

Consumer resources

MedlinePlus

Reviews

Related information

ClinVar
Related medical variations
PubMed
Related literature resources in PubMed

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