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Gonadal disorder

MedGen UID:: 9074
•Concept ID:: C0018050
•: Disease or Syndrome

Synonym:	Gonadal disease

Monarch Initiative:	MONDO:0002259

Definition

A non-neoplastic or neoplastic disorder that affects the testis or the ovary. [from NCI]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVGonadal disorder

Pathological Conditions, Signs and Symptoms
- Pathological process
  - Disease
    - Disorder by Site
      - Disorder of endocrine system
        Gonadal disorder
        Delayed puberty
        Delayed adrenarche
        Delayed menarche
        Delayed thelarche
        Disorder of ovary
        Anovulation
        Anovulatory
        Oophoritis
        Ovarian cyst
        Benign Ovarian Cyst
        Calcified ovarian cyst
        Hemorrhagic ovarian cyst
        Ovarian Endometriotic Cyst
        Ovarian serous cystadenoma
        Polycystic ovaries
        Unilocular ovarian cyst
        Ovarian hyperstimulation syndrome
        Ovarian neoplasm
        Brenner Tumor
        Endometrioid carcinoma
        Familial ovarian carcinoma
        Fibroma of ovary
        Granulosa cell tumor
        Hereditary breast ovarian cancer syndrome
        Maligant granulosa cell tumor of ovary
        Meigs syndrome
        Ovarian benign neoplasm
        Ovarian cancer
        OVARIAN CANCER, EPITHELIAL, SOMATIC
        Ovarian carcinoma
        Ovarian cystadenoma
        Ovarian epithelial tumor
        Ovarian germ cell tumor
        Ovarian gonadoblastoma
        Ovarian Mixed Germ Cell-Sex Cord-Stromal Tumor
        Ovarian neuroendocrine neoplasm
        Ovarian papillary adenocarcinoma
        Ovarian sex cord-stromal tumor
        Ovarian Soft Tissue Neoplasm
        Ovarian Stromal Luteoma
        Ovarian teratoma
        Sertoli-Leydig cell tumor
        Thecoma
        Ovarian Non-Neoplastic Disorder
        Leuteoma of Pregnancy
        Menstrual problem
        Ovarian endometriosis
        ovarian failure
        Ovarian Fibromatosis and Massive Edema
        Ovarian Stromal Hyperplasia
        Ovarian stromal hyperthecosis
        Ovarian torsion
        Resistant ovary syndrome
        Premature ovarian failure
        Premature ovarian failure 1
        Premature ovarian failure 3
        Premature ovarian failure 4
        Premature ovarian failure 5
        Premature ovarian failure 6
        Premature ovarian failure 7
        Premature ovarian failure 2A
        Premature ovarian failure 2B
        Premature ovarian insufficiency
        Disorder of testis
        Cryptorchidism
        Bilateral cryptorchidism
        Unilateral cryptorchidism
        Orchitis
        Non-specific granulomatous orchitis
        Testicular neoplasm
        Benign neoplasm of testis
        Childhood testicular neoplasm
        Germ cell tumor of testis
        Juvenile type testicular granulosa cell tumor
        Malignant tumor of testis
        Sertoli cell neoplasm
        Testicular adrenal rest tumor
        Testicular Brenner tumor
        Testicular gonadoblastoma
        Testicular Mixed Germ Cell-Sex Cord-Stromal Tumor, Unclassified
        Testicular sex cord-stromal neoplasm
        Testicular teratoma
        Testicular Non-Neoplastic Disorder
        Ascending Testicle
        Retractile testis
        Spermatic cord torsion
        Testicular atrophy
        Testicular Hypotrophy
        Testicular infarct
        Hypogonadism
        Eunuchism
        Hypergonadotropic hypogonadism
        Congenital Hypergonadotropic Hypogonadism
        Follicle Stimulating Hormone Receptor Deficiency
        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
        Hypogonadotropic hypogonadism
        Acquired Hypogonadotropic Hypogonadism
        Congenital hypogonadotropic hypogonadism
        Hypogonadotropic Hypogonadism with Adrenal Hypoplasia Congenita
        Isolated Hypogonadotropic Hypogonadism
        Infantilism, Sexual
        Klinefelter syndrome
        Male hypogonadism
        Acquired testicular failure
        Congenital Testicular Failure
        Primary testicular failure
        Non-Neoplastic Gonadal Disorder
        Gonadal agenesis
        Gonadal dysgenesis
        Gonadal dysgenesis with female appearance, male
        Gonadal dysgenesis, male
        Mixed gonadal dysgenesis
        Ovarian dysgenesis 1
        Streak gonad
        Turner syndrome
        Precocious puberty
        Central precocious puberty
        Idiopathic central precocious puberty
        Secondary central precocious puberty
        Central precocious puberty 1
        Familial Male Precocious Puberty
        Gonadotropin independent precocious puberty
        Gonadotropin-independent familial sexual precocity
        Idiopathic Precocious Puberty
        Isosexual precocious puberty
        Precocious puberty in females
        Aromatase excess syndrome
        McCune-Albright syndrome
        Precocious puberty in males
        Premature pubarche
        Premature thelarche
        Reproductive Endocrine Neoplasm
        Sex Development Disorder
        46,XX disorder of sex development
        46,XX testicular disorder of sex development
        Hyperandrogenization syndrome
        46,XX sex reversal 1
        46,XY disorder of sex development
        11p partial monosomy syndrome
        46,XY sex reversal 1
        46,XY sex reversal 4
        Androgen resistance syndrome
        Drash syndrome
        Frasier syndrome
        Penile agenesis
        Adrenogenital syndrome
        Congenital adrenal hyperplasia
        Cortisone reductase deficiency
        Glucocorticoid resistance
        MIRAGE syndrome
        Sex chromosome disorder of sex development
        45,X/46,XY mixed gonadal dysgenesis
        48,XXXY syndrome
        49,XXXXY syndrome
        Freemartinism
        Tetragametic chimerism
        XXYY syndrome

Professional guidelines

PubMed

Recommendations from the 2023 international evidence-based guideline for the assessment and management of polycystic ovary syndrome.

Teede HJ, Tay CT, Laven JJE, Dokras A, Moran LJ, Piltonen TT, Costello MF, Boivin J, Redman LM, Boyle JA, Norman RJ, Mousa A, Joham AE; International PCOS Network
Eur J Endocrinol 2023 Aug 2;189(2):G43-G64. doi: 10.1093/ejendo/lvad096. PMID: 37580861

Recommendations From the 2023 International Evidence-based Guideline for the Assessment and Management of Polycystic Ovary Syndrome.

Teede HJ, Tay CT, Laven JJE, Dokras A, Moran LJ, Piltonen TT, Costello MF, Boivin J, Redman LM, Boyle JA, Norman RJ, Mousa A, Joham AE
J Clin Endocrinol Metab 2023 Sep 18;108(10):2447-2469. doi: 10.1210/clinem/dgad463. PMID: 37580314 Free PMC Article

Recommendations from the international evidence-based guideline for the assessment and management of polycystic ovary syndrome.

Teede HJ, Misso ML, Costello MF, Dokras A, Laven J, Moran L, Piltonen T, Norman RJ; International PCOS Network
Fertil Steril 2018 Aug;110(3):364-379. Epub 2018 Jul 19 doi: 10.1016/j.fertnstert.2018.05.004. PMID: 30033227 Free PMC Article

See all (11252)

Recent clinical studies

Etiology

Partial deletion of the NR5A1 (SF1) gene detected by synthetic probe MLPA in a patient with XY gonadal disorder of sex development.

Barbaro M, Cools M, Looijenga LH, Drop SL, Wedell A
Sex Dev 2011;5(4):181-7. Epub 2011 Jun 3 doi: 10.1159/000328821. PMID: 21654157

Diagnosis

Delayed puberty.

Butler G, Purushothaman P
Minerva Pediatr 2020 Dec;72(6):484-490. Epub 2020 Aug 4 doi: 10.23736/S0026-4946.20.05968-X. PMID: 32748610

Gene dosage imbalances in patients with 46,XY gonadal DSD detected by an in-house-designed synthetic probe set for multiplex ligation-dependent probe amplification analysis.

Barbaro M, Cicognani A, Balsamo A, Löfgren A, Baldazzi L, Wedell A, Oscarson M
Clin Genet 2008 May;73(5):453-64. Epub 2008 Apr 2 doi: 10.1111/j.1399-0004.2008.00980.x. PMID: 18384427

Prognosis

Delayed puberty.

Butler G, Purushothaman P
Minerva Pediatr 2020 Dec;72(6):484-490. Epub 2020 Aug 4 doi: 10.23736/S0026-4946.20.05968-X. PMID: 32748610

Clinical prediction guides

Delayed puberty.

Butler G, Purushothaman P
Minerva Pediatr 2020 Dec;72(6):484-490. Epub 2020 Aug 4 doi: 10.23736/S0026-4946.20.05968-X. PMID: 32748610

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