Full Report

Format

Full Report
Summary (Text)
Summary (XML)

Send to:

Choose Destination

File
Clipboard
Collections

Sex Development Disorder

MedGen UID:: 20725
•Concept ID:: C0036875
•: Congenital Abnormality

Synonyms:

Disorders of Sex Development; Disorders of Sexual Development; Sex Development Disorders; Sexual Development Disorder; Sexual Development Disorders

Definition

In gonochoristic organisms, congenital conditions in which development of chromosomal, gonadal, or anatomical sex is atypical. Effects from exposure to abnormal levels of GONADAL HORMONES in the maternal environment, or disruption of the function of those hormones by ENDOCRINE DISRUPTORS are included. [from MeSH]

Term Hierarchy

GTR
MeSH
Orphanet

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVSex Development Disorder

Phenotypic abnormality
- Abnormality of prenatal development or birth
  - Fetal anomaly
    - Congenital Systemic Disorder
      - Abnormality of the genitourinary system
        Sex Development Disorder
        46,XX disorder of sex development
        46,XX testicular disorder of sex development
        46,XX sex reversal 1
        46,XX sex reversal 2
        46,XX sex reversal 3
        Hyperandrogenization syndrome
        Ovarian dysgenesis 1
        46,XY disorder of sex development
        11p partial monosomy syndrome
        46,XY sex reversal 1
        46,XY sex reversal 4
        Androgen resistance syndrome
        Androgen insensitivity syndrome, mild
        Complete androgen insensitivity syndrome
        Partial androgen insensitivity syndrome
        Drash syndrome
        Denys-Drash Syndrome, Incomplete
        Frasier syndrome
        Gonadal dysgenesis, male
        Gonadoblastoma
        Hypogonadism with anosmia
        Hypogonadotropic hypogonadism 1 with or without anosmia
        Hypogonadotropic hypogonadism 2 with or without anosmia
        Hypogonadotropic hypogonadism 3 with or without anosmia
        Hypogonadotropic hypogonadism 4 with or without anosmia
        Hypogonadotropic hypogonadism 5 with or without anosmia
        Hypogonadotropic hypogonadism 6 with or without anosmia
        Penile agenesis
        Adrenogenital syndrome
        Congenital adrenal hyperplasia
        3 beta-Hydroxysteroid dehydrogenase deficiency
        Adrenal Gland Hyperplasia II
        Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
        Classic congenital adrenal hyperplasia
        Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
        Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
        Congenital lipoid adrenal hyperplasia due to STAR deficency
        Deficiency of steroid 11-beta-monooxygenase
        Deficiency of steroid 17-alpha-monooxygenase
        Macronodular adrenal hyperplasia
        Micronodular adrenal hyperplasia
        Multinodular Adrenal Hyperplasia
        Non-classic congenital adrenal hyperplasia
        Cortisone reductase deficiency
        Glucocorticoid resistance
        MIRAGE syndrome
        Gonadal dysgenesis
        Gonadal dysgenesis with female appearance, male
        Infantilism, Sexual
        Mixed gonadal dysgenesis
        Turner syndrome
        Monosomy X
        Mosaic Turner syndrome
        Turner syndrome due to structural X chromosome anomalies
        Sex chromosome disorder of sex development
        45,X/46,XY mixed gonadal dysgenesis
        48,XXXY syndrome
        49,XXXXY syndrome
        Freemartinism
        Klinefelter syndrome
        Tetragametic chimerism
        XXYY syndrome

Follow this link to review classifications for Sex Development Disorder in Orphanet.

Professional guidelines

PubMed

Consensus statement on concussion in sport: the 6th International Conference on Concussion in Sport-Amsterdam, October 2022.

Patricios JS, Schneider KJ, Dvorak J, Ahmed OH, Blauwet C, Cantu RC, Davis GA, Echemendia RJ, Makdissi M, McNamee M, Broglio S, Emery CA, Feddermann-Demont N, Fuller GW, Giza CC, Guskiewicz KM, Hainline B, Iverson GL, Kutcher JS, Leddy JJ, Maddocks D, Manley G, McCrea M, Purcell LK, Putukian M, Sato H, Tuominen MP, Turner M, Yeates KO, Herring SA, Meeuwisse W
Br J Sports Med 2023 Jun;57(11):695-711. doi: 10.1136/bjsports-2023-106898. PMID: 37316210

Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society Clinical Practice Guideline.

Speiser PW, Arlt W, Auchus RJ, Baskin LS, Conway GS, Merke DP, Meyer-Bahlburg HFL, Miller WL, Murad MH, Oberfield SE, White PC
J Clin Endocrinol Metab 2018 Nov 1;103(11):4043-4088. doi: 10.1210/jc.2018-01865. PMID: 30272171 Free PMC Article

Polycystic ovary syndrome: definition, aetiology, diagnosis and treatment.

Escobar-Morreale HF
Nat Rev Endocrinol 2018 May;14(5):270-284. Epub 2018 Mar 23 doi: 10.1038/nrendo.2018.24. PMID: 29569621

See all (2130)

Recent clinical studies

Etiology

Epididymis cell atlas in a patient with a sex development disorder and a novel NR5A1 gene mutation.

Shi JW, Zhou YW, Chen YF, Ye M, Qiao F, Tian JW, Zhang MY, Lin HC, Xie GC, Fok KL, Jiang H, Liu Y, Chen H
Asian J Androl 2023 Jan-Feb;25(1):103-112. doi: 10.4103/aja202226. PMID: 35546286 Free PMC Article

Large scale across-breed genome-wide association study reveals a variant in HMGA2 associated with inguinal cryptorchidism risk in dogs.

Blades M, Freyer J, Donner J, Chodroff Foran R, Forman OP
PLoS One 2022;17(5):e0267604. Epub 2022 May 26 doi: 10.1371/journal.pone.0267604. PMID: 35617214 Free PMC Article

Disorders of sex development: Genetic characterization of a patient cohort.

García-Acero M, Moreno-Niño O, Suárez-Obando F, Molina M, Manotas MC, Prieto JC, Forero C, Céspedes C, Pérez J, Fernandez N, Rojas A
Mol Med Rep 2020 Jan;21(1):97-106. Epub 2019 Nov 12 doi: 10.3892/mmr.2019.10819. PMID: 31746433 Free PMC Article

Gonadal malignancy in 202 female patients with disorders of sex development containing Y-chromosome material.

Jiang JF, Xue W, Deng Y, Tian QJ, Sun AJ
Gynecol Endocrinol 2016;32(4):338-41. Epub 2015 Nov 26 doi: 10.3109/09513590.2015.1116509. PMID: 26608236

Adult care of children from pediatric urology: part 2.

Woodhouse CR, Lipshultz L, Hwang K, Mouriquand P, Creighton S
J Urol 2012 Sep;188(3):717-23. Epub 2012 Jul 19 doi: 10.1016/j.juro.2012.05.001. PMID: 22818132

See all (5)

Diagnosis

Magnetic Resonance Imagery Findings in Androgen Insensitivity: A case series.

Mukhopadhyay I, Aggarwal R, Mutreja D, Maheswari S
Sultan Qaboos Univ Med J 2021 Aug;21(3):472-476. Epub 2021 Aug 29 doi: 10.18295/squmj.4.2021.012. PMID: 34522415 Free PMC Article

A novel SRD5A2 mutation in an Iranian family with sex development disorder.

Hashemi-Gorji F, Salehpour S, Miryounesi M, Mirfakhraie R, Yassaee VR
Andrologia 2021 Feb;53(1):e13847. Epub 2020 Oct 25 doi: 10.1111/and.13847. PMID: 33099786

Disorders of sex development: Genetic characterization of a patient cohort.

Diagnosis of female 17α-hydroxylase deficiency after gonadectomy: a case report.

Mikami Y, Takai Y, Obata-Yasuoka M, Kumagai R, Yagyu H, Shigematsu K, Huang H, Uemura N, Shinsaka M, Saitoh M, Baba K, Seki H
J Med Case Rep 2019 Jul 30;13(1):235. doi: 10.1186/s13256-019-2166-9. PMID: 31358067 Free PMC Article

Autopsy findings of ectodermal dysplasia and sex development disorder in a fetus with 19q12q13 microdeletion.

Mottet N, Cabrol C, Metz JP, Toubin C, Arbez-Gindre F, Valduga M, McElreavey K, Riethmuller D, Van Maldergem L, Piard J
Eur J Med Genet 2019 Sep;62(9):103539. Epub 2018 Sep 18 doi: 10.1016/j.ejmg.2018.09.006. PMID: 30240710

See all (10)

Jiang JF, Xue W, Deng Y, Tian QJ, Sun AJ
Gynecol Endocrinol 2016;32(4):338-41. Epub 2015 Nov 26 doi: 10.3109/09513590.2015.1116509. PMID: 26608236

See all (1)

MedGen

National Center for Biotechnology Information

Send to:

Sex Development Disorder

Definition

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Supplemental Content

Table of contents

Practice guidelines

Related information

Recent activity