# Disgenesia gonadal parcial 46,XY

> Página oficial: https://raras.org/doenca/disgenesia-gonadal-parcial-46xy
> Fonte: Raras.org — Banco de Dados de Doenças Raras em Português (CC BY-NC-SA 4.0)
> Última atualização: 2026-05-07

## Identificadores

- **ORPHA**: 251510 — https://www.orpha.net/en/disease/detail/251510
- **CID-10**: Q56.1
- **OMIM**: none — https://omim.org/entry/none

## Descrição clínica

Doença/anomalia rara do desenvolvimento sexual (DDS) caracterizada por desenvolvimento gonadal atípico que resulta em ambiguidade genital de grau variável, variando de fenótipo quase feminino a fenótipo quase masculino num doente com cariótipo 46,XY.

## Epidemiologia e herança

- **Prevalência**: Unknown
- **Padrão de herança**: Autosomal dominant, Autosomal recessive, X-linked recessive, Y-linked

## Sinais e sintomas (84 fenótipos HPO)

- **Disgenesia gonadal** — HPO: HP:0000133 (Muito frequente (99-80%))
- **Rugosidade exagerada dos grandes lábios** — HPO: HP:0030913
- **Hipospadia penoscrotal** — HPO: HP:0000808
- **Ovoteste** — HPO: HP:0012861
- **Escroto bífido** — HPO: HP:0000048
- **Escroto pequeno** — HPO: HP:0000046
- **Anormalidade da fisiologia da tireoide** — HPO: HP:0002926
- **Microfalos** — HPO: HP:0030260
- **Hipoplasia do corpo cavernoso** — HPO: HP:4000094
- **Tetralogia de Fallot** — HPO: HP:0001636
- **Hipospadia perineal** — HPO: HP:0000051
- **Hérnia inguinal** — HPO: HP:0000023
- **Testículos displásicos** — HPO: HP:0008733
- **Hirsutismo** — HPO: HP:0001007
- **Disgerminoma** — HPO: HP:0100621
- **Cordee** — HPO: HP:0000041
- **Pequenos lábios fundidos** — HPO: HP:0000063
- **Comportamento autista** — HPO: HP:0000729
- **Hipoplasia do útero** — HPO: HP:0000013
- **Fissura palatina** — HPO: HP:0000175
- **Displasia renal** — HPO: HP:0000110
- **Dorso nasal deprimido** — HPO: HP:0000457
- **Palato ogival** — HPO: HP:0000218
- **Aumento da ureia nitrogenada no sangue** — HPO: HP:0003138
- **Agonadismo** — HPO: HP:0008633
- **Microtia** — HPO: HP:0008551
- **Hidronefrose** — HPO: HP:0000126
- **Micrognatia** — HPO: HP:0000347
- **Otite média recorrente** — HPO: HP:0000403
- **Atraso global do desenvolvimento** — HPO: HP:0001263
- **Grandes lábios hipoplásicos** — HPO: HP:0000059
- **Trigonocefalia** — HPO: HP:0000243
- **Filtro longo** — HPO: HP:0000343
- **Concentração elevada de creatinina circulante** — HPO: HP:0003259
- **Nariz proeminente** — HPO: HP:0000448
- **Sinfalangismo distal** — HPO: HP:0100263
- **Obstrução da junção ureteropélvica** — HPO: HP:0000074
- **Narinas antevertidas** — HPO: HP:0000463
- **Atresia anal** — HPO: HP:0002023
- **Fissura palpebral ascendente** — HPO: HP:0000582
- _...e mais 44 sintomas. Ver https://raras.org/doenca/disgenesia-gonadal-parcial-46xy._

## Genes associados (11)

- **DHX37** — Probable ATP-dependent RNA helicase DHX37 [Disease-causing germline mutation(s) in]
  - Função: ATP-binding RNA helicase that plays a role in maturation of the small ribosomal subunit in ribosome biogenesis (PubMed:30582406). Required for the release of the U3 snoRNP from pre-ribosomal particles
- **ZFPM2** — Zinc finger protein ZFPM2 [Disease-causing germline mutation(s) in]
  - Função: Transcription regulator that plays a central role in heart morphogenesis and development of coronary vessels from epicardium, by regulating genes that are essential during cardiogenesis. Essential cof
- **WT1** — Wilms tumor protein [Candidate gene tested in]
  - Função: Transcription factor that plays an important role in cellular development and cell survival (PubMed:7862533). Recognizes and binds to the DNA sequence 5'-GCG(T/G)GGGCG-3' (PubMed:17716689, PubMed:2525
- **SRY** — Sex-determining region Y protein [Disease-causing germline mutation(s) in]
  - Função: Transcriptional regulator that controls a genetic switch in male development (PubMed:11563911). It is necessary and sufficient for initiating male sex determination by directing the development of sup
- **VAMP7** — Vesicle-associated membrane protein 7 [Role in the phenotype of]
  - Função: Involved in the targeting and/or fusion of transport vesicles to their target membrane during transport of proteins from the early endosome to the lysosome. Required for heterotypic fusion of late end
- **NR5A1** — Steroidogenic factor 1 [Disease-causing germline mutation(s) in]
  - Função: Transcriptional activator. Essential for sexual differentiation and formation of the primary steroidogenic tissues (PubMed:27378692). Binds to the Ad4 site found in the promoter region of steroidogeni
- **GATA4** — Transcription factor GATA-4 [Disease-causing germline mutation(s) (loss of function) in]
  - Função: Transcriptional activator that binds to the consensus sequence 5'-AGATAG-3' and plays a key role in cardiac development and function (PubMed:24000169, PubMed:27984724, PubMed:35182466). In cooperation
- **MAP3K1** — Mitogen-activated protein kinase kinase kinase 1 [Disease-causing germline mutation(s) in]
  - Função: Component of a protein kinase signal transduction cascade (PubMed:9808624). Activates the ERK and JNK kinase pathways by phosphorylation of MAP2K1 and MAP2K4 (PubMed:9808624). May phosphorylate the MA
- **WWOX** — WW domain-containing oxidoreductase [Disease-causing germline mutation(s) in]
  - Função: Putative oxidoreductase. Acts as a tumor suppressor and plays a role in apoptosis. Required for normal bone development (By similarity). May function synergistically with p53/TP53 to control genotoxic
- **SOX9** — Transcription factor SOX-9 [Disease-causing germline mutation(s) in]
  - Função: Transcription factor that plays a key role in chondrocytes differentiation and skeletal development (PubMed:24038782). Specifically binds the 5'-ACAAAG-3' DNA motif present in enhancers and super-enha
- **NR0B1** — Nuclear receptor subfamily 0 group B member 1 [Role in the phenotype of]
  - Função: Nuclear receptor that lacks a DNA-binding domain and acts as a corepressor that inhibits the transcriptional activity of other nuclear receptors through heterodimeric interactions (PubMed:12482977, Pu

## Ensaios clínicos ativos (2)

- **NCT04708431** [RECRUITING]: Androgen Receptor, Implications for Health and Wellbeing: Natural History Study of Individuals With Androgen Insensitivity — https://clinicaltrials.gov/study/NCT04708431
- **NCT01793168** [RECRUITING]: Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford — https://clinicaltrials.gov/study/NCT01793168

## Doenças relacionadas (por similaridade fenotípica)

- [Disgenesia gonadal completa 46,XY](https://raras.org/doenca/disgenesia-gonadal-completa-46xy) — ORPHA:242 — 59 sintomas em comum
- [Doença do desenvolvimento sexual 46,XX](https://raras.org/doenca/doenca-do-desenvolvimento-sexual-46xx) — ORPHA:2982 — 27 sintomas em comum
- [Monossomia parcial do cromossomo 3](https://raras.org/doenca/monossomia-parcial-do-cromossomo-3) — ORPHA:261776 — 25 sintomas em comum
- [Disgenesia gonadal mista 45,X/46,XY](https://raras.org/doenca/disgenesia-gonadal-mista-45x46xy) — ORPHA:1772 — 25 sintomas em comum
- [Doença do desenvolvimento sexual 46,XY por deficiência de 17,20-liase isolada](https://raras.org/doenca/doenca-do-desenvolvimento-sexual-46xy-por-deficiencia-de-1720-liase-isolada) — ORPHA:90796 — 23 sintomas em comum
- [Disgenesia gonadal 46,XX](https://raras.org/doenca/disgenesia-gonadal-46xx) — ORPHA:243 — 21 sintomas em comum
- [Síndrome orelha-rótula-baixa estatura](https://raras.org/doenca/sindrome-orelha-rotula-baixa-estatura) — ORPHA:2554 — 21 sintomas em comum
- [Síndrome de blefarofimose-perturbação do desenvolvimento intelectual](https://raras.org/doenca/sindrome-de-blefarofimose-perturbacao-do-desenvolvimento-intelectual) — ORPHA:293642 — 20 sintomas em comum
- [Síndrome Kallmann](https://raras.org/doenca/sindrome-kallmann) — ORPHA:478 — 20 sintomas em comum
- [Síndrome Smith-Lemli-Opitz](https://raras.org/doenca/sindrome-smith-lemli-opitz) — ORPHA:818 — 20 sintomas em comum

## Importante

O Raras **não diagnostica e não prescreve**. Esta página é educativa e informativa.
Pacientes devem consultar profissionais de saúde qualificados para decisões clínicas.

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