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Insensibilidade parcial aos androgênios
ORPHA:90797CID-10 · E34.5CID-11 · LD2A.4OMIM 307300DOENÇA RARA

A síndrome de insensibilidade parcial aos andrógenos (PAIS) é uma condição do desenvolvimento sexual (DSD), diferente da insensibilidade completa aos andrógenos (CAIS). Ela é caracterizada por um desenvolvimento genital incomum em pessoas que, geneticamente, são XY, mas que possuem testículos desenvolvidos normalmente e uma resposta parcial aos níveis de andrógenos (hormônios masculinos) esperados para a idade.

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Introdução

O que você precisa saber de cara

📋

A síndrome de insensibilidade parcial aos andrógenos (PAIS) é uma condição do desenvolvimento sexual (DSD), diferente da insensibilidade completa aos andrógenos (CAIS). Ela é caracterizada por um desenvolvimento genital incomum em pessoas que, geneticamente, são XY, mas que possuem testículos desenvolvidos normalmente e uma resposta parcial aos níveis de andrógenos (hormônios masculinos) esperados para a idade.

Pesquisas ativas
1 ensaio
1 total registrados no ClinicalTrials.gov
Publicações científicas
205 artigos
Último publicado: 2026 Mar 19

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
Unknown
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.0
Worldwide
Início
All ages
🏥
SUS: Sem cobertura SUSScore: 0%
CID-10: E34.5
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Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

Partes do corpo afetadas

📏
Crescimento
5 sintomas
🧬
Pele e cabelo
1 sintomas
🫘
Rins
1 sintomas
🦴
Ossos e articulações
1 sintomas

+ 24 sintomas em outras categorias

Características mais comuns

90%prev.
Disfunção sexual masculina
Muito frequente (99-80%)
90%prev.
Infertilidade masculina
Muito frequente (99-80%)
90%prev.
Aumento do nível de hormônio antimülleriano
Muito frequente (99-80%)
90%prev.
Aplasia do ovário
Muito frequente (99-80%)
90%prev.
Nível elevado de hormônio luteinizante circulante
Muito frequente (99-80%)
90%prev.
Aplasia do útero
Muito frequente (99-80%)
32sintomas
Muito frequente (7)
Frequente (5)
Ocasional (14)
Sem dados (6)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 32 características clínicas mais associadas, ordenadas por frequência.

Disfunção sexual masculinaMale sexual dysfunction
Muito frequente (99-80%)90%
Infertilidade masculinaMale infertility
Muito frequente (99-80%)90%
Aumento do nível de hormônio antimüllerianoIncreased antimullerian hormone level
Muito frequente (99-80%)90%
Aplasia do ovárioAplasia of the ovary
Muito frequente (99-80%)90%
Nível elevado de hormônio luteinizante circulanteElevated circulating luteinizing hormone level
Muito frequente (99-80%)90%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico205PubMed
Últimos 10 anos83publicações
Pico201912 papers
Linha do tempo
2026Hoje · 2026📈 2019Ano de pico🧪 2021Primeiro ensaio clínico
Publicações por ano (últimos 10 anos)

Encontrou um erro ou informação desatualizada? Sugira uma correção →

Genética e causas

O que está alterado no DNA e como passa nas famílias

Genes associados

1 gene identificado com associação a esta condição. Padrão de herança: X-linked recessive.

ARAndrogen receptorDisease-causing germline mutation(s) inAltamente restrito
FUNÇÃO

Steroid hormone receptors are ligand-activated transcription factors that regulate eukaryotic gene expression and affect cellular proliferation and differentiation in target tissues (PubMed:19022849). Transcription factor activity is modulated by bound coactivator and corepressor proteins like ZBTB7A that recruits NCOR1 and NCOR2 to the androgen response elements/ARE on target genes, negatively regulating androgen receptor signaling and androgen-induced cell proliferation (PubMed:20812024). Tran

LOCALIZAÇÃO

NucleusCytoplasm

VIAS BIOLÓGICAS (6)
RUNX2 regulates osteoblast differentiationActivated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3HSP90 chaperone cycle for steroid hormone receptors (SHR) in the presence of ligandNuclear Receptor transcription pathwaySUMOylation of intracellular receptors
MECANISMO DE DOENÇA

Androgen insensitivity syndrome

An X-linked recessive form of pseudohermaphroditism due end-organ resistance to androgen. Affected males have female external genitalia, female breast development, blind vagina, absent uterus and female adnexa, and abdominal or inguinal testes, despite a normal 46,XY karyotype.

OUTRAS DOENÇAS (7)
Kennedy diseasehypospadias 1, X-linkedandrogen insensitivity syndromepartial androgen insensitivity syndrome
HGNC:644UniProt:P10275

Variantes genéticas (ClinVar)

569 variantes patogênicas registradas no ClinVar.

🧬 AR: NM_000044.6(AR):c.2591T>G (p.Leu864Arg) ()
🧬 AR: NM_000044.6(AR):c.2168T>C (p.Leu723Ser) ()
🧬 AR: NM_000044.6(AR):c.2073C>A (p.Asp691Glu) ()
🧬 AR: NM_000044.6(AR):c.2329_2333dup (p.Lys778fs) ()
🧬 AR: NM_000044.6(AR):c.1487del (p.Asp496fs) ()
Ver todas no ClinVar

Classificação de variantes (ClinVar)

Distribuição de 52 variantes classificadas pelo ClinVar.

26
18
8
Patogênica (50.0%)
VUS (34.6%)
Benigna (15.4%)
VARIANTES MAIS SIGNIFICATIVAS
AR: NM_000044.6(AR):c.610G>T (p.Glu204Ter) [Pathogenic]
AR: NM_000044.6(AR):c.154_220del (p.Ala52fs) [Pathogenic]
AR: NM_000044.6(AR):c.2612C>G (p.Ala871Gly) [Likely pathogenic]
AR: NM_000044.6(AR):c.2270A>G (p.Asn757Ser) [Pathogenic/Likely pathogenic]
AR: NM_000044.6(AR):c.2317G>A (p.Glu773Lys) [Likely pathogenic]

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Pipeline de tratamentos
Pipeline regulatório — de medicamentos já aprovados a drogas em pesquisa exploratória.
·Pré-clínico1
Medicamentos catalogadosEnsaios clínicos· 0 medicamentos · 1 ensaio
Carregando informações de tratamento...

Onde tratar no SUS

Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)

🇧🇷 Atendimento SUS — Insensibilidade parcial aos androgênios

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Selecione um estado ou use sua localização para ver resultados.

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Pesquisa ativa

Ensaios clínicos abertos e novidades científicas recentes

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1 pesquisa recrutando participantes. Converse com seu médico sobre a possibilidade de participar.

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Publicações mais relevantes

Timeline de publicações
85 papers (10 anos)
#1

Laparoscopic transabdominal pre-peritoneal hernia repair with bilateral orchidectomy in partial androgen insensitivity syndrome.

Journal of minimal access surgery2026 Mar 19

Partial androgen insensitivity syndrome (PAIS) is a rare X-linked recessive disorder in which individuals with a 46,XY karyotype exhibit a phenotypically female appearance due to end-organ resistance to androgens. We present a 21-year-old phenotypic female with left groin pain and a palpable right labial mass. Clinical findings included normal breast development, scant pubic and axillary hair, primary amenorrhea, clitoromegaly resembling a microphallus and bifid scrotum-like labia. Imaging revealed a left inguinal undescended testis with hernia and a right testis in the right labia majora, with absent uterus and ovaries. Karyotyping confirmed a 46,XY genotype. After multidisciplinary counselling, the patient chose to retain female gender identity and initiate lifelong oestrogen therapy. Laparoscopic transabdominal pre-peritoneal (TAPP) hernia repair with synchronous bilateral orchidectomy was performed. Recovery was uneventful with excellent cosmesis. This is the first reported case of PAIS managed with combined laparoscopic TAPP hernia repair and bilateral orchidectomy, underscoring the importance of individualised gender-affirming management and the versatility of minimally invasive surgery.

#2

Genetic variants, clinical characteristics, and surgical treatments of 46 children with androgen insensitivity syndrome.

Asian journal of andrology2026 Mar 01

Androgen insensitivity syndrome (AIS) is a condition that emerges from mutations in the androgen receptor ( AR ) gene, leading to functional defects and subsequent abnormal development of the urogenital sinus. The aim of this study was to investigate the relationship between genotype and phenotype, surgical treatments, and complications of AIS patients. We retrospectively evaluated the medical records of patients who were diagnosed with AIS after genetic testing and underwent initial surgery at Beijing Children's Hospital, Capital Medical University (Beijing, China), from August 2007 to August 2023. A total of 46 patients were included in this study. Four novel variants, p.Y572S, p.L57dup, p.L882del, and p.V888A, were identified. AR variants are concentrated in the ligand-binding domain (LBD) region (60.9%) and are predominantly missense mutations (78.3%). There was no significant difference in the phenotypes between the LBD group and the non-LBD group ( P > 0.05). Nonsense or frameshift mutations may accompany more severe phenotypes or complete androgen insensitivity syndrome (CAIS; P = 0.011). For CAIS patients with inguinal hernias, we recommend that hernia ligation surgery should be performed during childhood and that gonadectomy should be considered during adolescence or postadolescence. Preoperative hormone stimulation (PHS) had a positive effect on penile growth ( P = 0.0014). Compared with patients with severe hypospadias, those patients with partial androgen insensitivity syndrome (PAIS) experience fewer complications from urethroplasty. If the conditions for a one-stage operation are not adequately met, it is advisable to perform staged surgery.

#3

Clinical, Hormonal, and Genetic Spectrum of 46 XY Disorders of Sexual Development (DSD) Patients.

Indian journal of pediatrics2025 Aug

To evaluate the clinical, hormonal and genetic characteristics of 46XY disorders of sexual development (DSD) patients from South India. 46XY DSD patients with a provisional diagnosis of 17β-hydroxysteroid dehydrogenase 3 (17BHSD3) deficiency, 5 alpha-reductase type 2 deficiency (5ARD2) or partial androgen insensitivity syndrome (PAIS) based on clinical and hormonal analysis were included in this study. All the patients underwent detailed clinical and hormonal evaluations. Targeted next-generation sequencing for all three genes (AR, HSD17B3, and SRD5A2) in parallel was carried out for all the included patients and their parents. Based upon the clinical and hormonal analysis, among the 37 children with 46XY DSD in the present study, 21 children were diagnosed with 5ARD2, 10 with PAIS, and six with 17BHSD3 deficiency. However, genetic analysis revealed pathogenic mutations in nine patients - six in the AR gene, two in the SRD5A2 gene, and one in the HSD17B3 gene. The concordance rate between provisional hormonal and genetic diagnosis was only 22.2%. Two out of six subjects with AR gene variants were positive for somatic mosaicism. In the present study, a positive genetic diagnosis was detected in nine patients (24%), including five novel variants. In this study, mutations in the AR gene was the most reported. The authors did not find the testosterone: dihydrotestosterone (T: DHT) ratio to be an accurate hormonal diagnostic tool.

#4

Case Report: Laparoscopic vaginoplasty in a case of partial androgen insensitivity syndrome and a literature review of 16 cases in China.

Frontiers in surgery2025

We examined the clinical features, diagnosis, treatment, and future gender choice of patients with partial androgen insensitivity syndrome (PAIS). The clinical features, specialty examinations, three-stage surgical examination, and treatment process of a patient with PAIS were comprehensively reviewed. Additionally, 16 PAIS case reports were collected from Chinese databases and analyzed. Seventeen PAIS cases were included in this study. All patients presented with primary amenorrhea (17/17) and displayed specific clinical features such as a male social identity or appearance (3/17), an underdeveloped phallus or clitoromegaly (16/17), abnormal urethral development (7/17), and breast development (4/17). Twelve cases were managed as women, both surgically and with hormone replacement therapy. The patient in this case report underwent three surgical procedures involving laparoscopic examination and clitoroplasty, left orchidopexy, and laparoscopic vaginoplasty using peritoneum and an acellular dermal matrix. PAIS is a rare disorder of sex development (DSD) with a 46,XY karyotype and is a congenital X-linked recessive disease. Therefore, a deeper understanding of the pathogenesis of androgen insensitivity syndrome allows more accurate diagnosis, personalized treatment, and organized follow-up of the condition, thereby avoiding gender dysphoria.

#5

Partial Androgen Insensitivity Syndrome and Congenital Adrenal Hyperplasia-A Case Report of the Coexistence of Two Rare Diseases in One Patient.

Reports (MDPI)2025 Oct 23

Background and Clinical Significance: In a single phenotypically female patient, we describe the rare co-occurrence of partial androgen insensitivity syndrome (PAIS) and congenital adrenal hyperplasia (CAH). Partial androgen insensitivity syndrome (PAIS) is one of disorder of sex development (DSD) with a 46 XY karyotype. Congenital adrenal hyperplasia (CAH) is a genetic defect in adrenal steroidogenesis. Case presentation: We present the case of a 26-year-old female patient who was observed to have abnormally formed external genitourinary organs. She was diagnosed at the neonatal period. Tests performed showed a 46 XY karyotype, an absence of sex chromatin with a weakly positive DNA test for the SRY gene, an absence of uterine primordium with the presence of male gonads in the perineal skin folds, and a urethral outlet at the base of an undeveloped genital process. The daily urinary steroid excretion profile was normal. The patient was diagnosed with partial androgen insensitivity syndrome (PAIS). As a 4-year-old child, she underwent a bilateral gonadectomy due to possible further virilization and also the risk of testicular malignancy. Despite treatment, progressive androgenization was observed, the cause of which turned out to be congenital adrenal hyperplasia (CAH) in the course of P450 oxidoreductase (POR) disorder. Conclusions: In this article, we highlight the exceptional rarity of the co-occurrence of PAIS and CAH, underscoring the need for a multidisciplinary and individualized approach in the absence of clear guidelines regarding surgical timing and gender identity. Careful clinical evaluation and ongoing observation are essential for accurate diagnosis and optimal patient care.

Publicações recentes

Ver todas no PubMed

📚 EuropePMC87 artigos no totalmostrando 83

2026

Laparoscopic transabdominal pre-peritoneal hernia repair with bilateral orchidectomy in partial androgen insensitivity syndrome.

Journal of minimal access surgery
2026

Genetic variants, clinical characteristics, and surgical treatments of 46 children with androgen insensitivity syndrome.

Asian journal of andrology
2025

Case Report: Laparoscopic vaginoplasty in a case of partial androgen insensitivity syndrome and a literature review of 16 cases in China.

Frontiers in surgery
2025

Partial Androgen Insensitivity Syndrome and Congenital Adrenal Hyperplasia-A Case Report of the Coexistence of Two Rare Diseases in One Patient.

Reports (MDPI)
2025

Familial novel androgen receptor gene variant associated with bilateral cryptorchidism and severe male infertility: A case report.

Urology case reports
2025

Genital masculinizing reconstruction for untreated intersex individuals in adulthood: a case report.

Translational andrology and urology
2025

Gynecomastia and Its Management In Boys With Partial Androgen Insensitivity Syndrome.

The Journal of clinical endocrinology and metabolism
2024

Recommendations for 46,XY Disorders/Differences of Sex Development Across Two Decades: Insights from North American Pediatric Endocrinologists and Urologists.

Archives of sexual behavior
2023

A 10-YEAR STUDY OF CHILDREN WITH GONADAL TUMORS AND DISORDERS OF SEX DIFFERENTIATION, IN ROMANIA.

Acta endocrinologica (Bucharest, Romania : 2005)
2025

Clinical, Hormonal, and Genetic Spectrum of 46 XY Disorders of Sexual Development (DSD) Patients.

Indian journal of pediatrics
2024

The role of pre- and postnatal investigations in suspected isolated hypospadias.

Journal of gynecology obstetrics and human reproduction
2024

MYRF mutation leads to a single manifestation of sexual development and mimics partial androgen insensitivity syndrome: a case report and literature review.

Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology
2024

A case of mild partial androgen insensitivity syndrome in a juvenile boy.

The Journal of international medical research
2024

Adult Outcome After Partial Androgen Insensitivity Syndrome: Diagnosed and Assigned Female in Infancy.

Journal of clinical research in pediatric endocrinology
2023

Urethral reconstruction using amniotic membrane allograft in hereditary androgen insensitivity syndrome: a case series.

Journal of surgical case reports
2023

Serum steroid metabolite profiling by LC-MS/MS in two phenotypic male patients with HSD17B3 deficiency: Implications for hormonal diagnosis.

The Journal of steroid biochemistry and molecular biology
2023

A Case Report on Ambiguous Genitalia: A Diagnostic, Therapeutic, and Cosmetic Challenge.

Cureus
2023

Pubertal and Gonadal Outcomes in 46,XY Individuals with Partial Androgen Insensitivity Syndrome Raised as Girls.

Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation
2022

Case report: Identification of a frameshift mutation in GC enrichment and the GCC repeat region of the androgen insensitivity receptor (AR) gene in a patient with complete androgen insensitivity syndrome by whole-exome sequencing (WES) combined with specific PCR and deep sequencing.

Frontiers in genetics
2023

Clinical characteristics, AR gene variants, and functional domains in 64 patients with androgen insensitivity syndrome.

Journal of endocrinological investigation
2022

Total corpora mobilization for penile reconstruction.

International braz j urol : official journal of the Brazilian Society of Urology
2022

Leydig and Sertoli cell function in individuals with genital ambiguity, 46,XY karyotype, palpable gonads and normal testosterone secretion: a case-control study.

Sao Paulo medical journal = Revista paulista de medicina
2022

Ventral clitoroplasty preserves dorsal nerves in case of partial androgen insensitivity syndrome: 4 years follow-up.

The journal of obstetrics and gynaecology research
2021

Identification of Potential Genes in Pathogenesis and Diagnostic Value Analysis of Partial Androgen Insensitivity Syndrome Using Bioinformatics Analysis.

Frontiers in endocrinology
2022

Clinical, Biochemical, and Molecular Characterization of Indian Children with Clinically Suspected Androgen Insensitivity Syndrome.

Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation
2021

One hundred twelve cases of 46, XY DSD patients after initial gender assignment: a short-term survey of gender role and gender dysphoria.

Orphanet journal of rare diseases
2021

One-stage sex reassignment surgery at the delayed presentation in a patient with partial androgen insensitivity syndrome: A case report.

International journal of surgery case reports
2021

Late Diagnosis of Partial Androgen Insensitivity Syndrome in a Peruvian Child.

Cureus
2021

[Feminizing genitoplasty for prepubertal children and teenagers female].

Progres en urologie : journal de l'Association francaise d'urologie et de la Societe francaise d'urologie
2021

Disorders of sex development and female reproductive capacity: A literature review.

Systems biology in reproductive medicine
2022

Masculinizing surgery in disorders/differences of sex development: clinician- and participant-evaluated appearance and function.

BJU international
2021

Gender identity disorder (GID) in adolescents and adults with differences of sex development (DSD): A systematic review and meta-analysis.

Journal of pediatric urology
2020

The FKBP4 Gene, Encoding a Regulator of the Androgen Receptor Signaling Pathway, Is a Novel Candidate Gene for Androgen Insensitivity Syndrome.

International journal of molecular sciences
2020

The LH/FSH ratio is not a sex-dimorphic marker after infancy: data from 6417 healthy individuals and 125 patients with Differences of Sex Development.

Human reproduction (Oxford, England)
2020

Post-operative complications following feminizing genitoplasty in moderate to severe genital atypia: Results from a multicenter, observational prospective cohort study.

Journal of pediatric urology
2020

Generation of human induced pluripotent stem cell (SKLRMi001-A) from a patient with partial androgen insensitivity syndrome (PAIS).

Stem cell research
2021

"Idiopathic" partial androgen insensitivity syndrome in 11 grandsons of women treated by diethylstilbestrol during gestation: a multi-generational impact of endocrine disruptor contamination?

Journal of endocrinological investigation
2020

Community perspectives on difference of sex development (DSD) diagnoses: A crowdsourced survey.

Journal of pediatric urology
2020

Clinical, hormonal and genetic characteristics of androgen insensitivity syndrome in 39 Chinese patients.

Reproductive biology and endocrinology : RB&amp;E
2019

Complete Androgen Insensitivity Syndrome: Dilemmas for Further Management after Gonadectomy.

Journal of human reproductive sciences
2019

Hypogonadism and Cryptorchidism.

Frontiers in endocrinology
2019

Disorders of Sex Development: A 10 Years Experience with 73 Cases from the Kashmir Valley.

Indian journal of endocrinology and metabolism
2019

Next-Generation Sequencing Reveals Novel Genetic Variants (SRY, DMRT1, NR5A1, DHH, DHX37) in Adults With 46,XY DSD.

Journal of the Endocrine Society
2019

Gonadal Tissue Cryopreservation for Children with Differences of Sex Development.

Hormone research in paediatrics
2019

Mobile DNA in Endocrinology: LINE-1 Retrotransposon Causing Partial Androgen Insensitivity Syndrome.

The Journal of clinical endocrinology and metabolism
2019

Initial assessment of a child with suspected disorder of sex development.

JPMA. The Journal of the Pakistan Medical Association
2019

Gonadal Tissue Cryopreservation for a Girl With Partial Androgen Insensitivity Syndrome.

Journal of the Endocrine Society
2019

Establishing reproductive potential and advances in fertility preservation techniques for XY individuals with differences in sex development.

Clinical endocrinology
2019

Partial androgen insensitivity syndrome in a 68-year-old patient.

Endocrine journal
2019

Dihydrotestosterone induces minor transcriptional alterations in genital skin fibroblasts of children with and without androgen insensitivity.

Endocrine journal
2019

Postnatal germ cell development during first 18 months of life in testes from boys with non-syndromic cryptorchidism and complete or partial androgen insensitivity syndrome.

Journal of pediatric surgery
2018

Partial androgen insensitivity syndrome presenting as pubertal gynecomastia: clinical and hormonal findings and a novel mutation in the androgen receptor gene.

Endocrinology, diabetes &amp; metabolism case reports
2018

Long-term Healthcare of People with Disorders of Sex Development: Predictors of Pubertal Outcomes of Partial Androgen Insensitivity Syndrome - Authors' Reply.

EBioMedicine
2018

Long-term healthcare of people with disorders of sex development: Predictors of pubertal outcomes of partial androgen insensitivity syndrome.

EBioMedicine
2018

Management of Gonads in Adults with Androgen Insensitivity: An International Survey.

Hormone research in paediatrics
2018

Predicting puberty in partial androgen insensitivity syndrome: Use of clinical and functional androgen receptor indices.

EBioMedicine
2018

Growth Hormone Deficiency Causing Micropenis: Lessons Learned From a Well-Adjusted Adult.

Pediatrics
2018

Partial androgen insensitivity syndrome caused by a deep intronic mutation creating an alternative splice acceptor site of the AR gene.

Scientific reports
2018

Comparison between two inhibin B ELISA assays in 46,XY testicular disorders of sex development (DSD) with normal testosterone secretion.

Journal of pediatric endocrinology &amp; metabolism : JPEM
2018

Partial androgen insensitivity syndrome due to somatic mosaicism of the androgen receptor.

Journal of pediatric endocrinology &amp; metabolism : JPEM
2017

Identification of the Underlying Androgen Receptor Defect in the Dallas Reifenstein Family.

Journal of the Endocrine Society
2017

Another Look at Hereditary Partial Androgen Insensitivity Syndrome in an Indigenous Community in the Northern Territory of Australia.

Journal of paediatrics and child health
2017

Re: Topical Dihydrotestosterone to Treat Micropenis Secondary to Partial Androgen Insensitivity Syndrome (PAIS) before, during, and after Puberty-A Case Series.

The Journal of urology
2017

Creation of a Neovagina by Laparoscopic Modified Davydov Vaginoplasty in Patients with Partial Androgen Insensitivity Syndrome.

Journal of minimally invasive gynecology
2017

Controversies of Sex Re-assignment in Genetic Males with Congenital Inadequacy of the Penis.

Indian journal of pediatrics
2017

AR mutations in 28 patients with androgen insensitivity syndrome (Prader grade 0-3).

Science China. Life sciences
2017

Heterozygous Nonsense Mutation in the Androgen Receptor Gene Associated with Partial Androgen Insensitivity Syndrome in an Individual with 47,XXY Karyotype.

Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation
2017

Efficacy and Safety of Continuous Subcutaneous Infusion of Recombinant Human Gonadotropins for Congenital Micropenis during Early Infancy
.

Hormone research in paediatrics
2017

Novel mutations of the SRD5A2 and AR genes in Thai patients with 46, XY disorders of sex development.

Journal of pediatric endocrinology &amp; metabolism : JPEM
2016

Identification of an AR Mutation-Negative Class of Androgen Insensitivity by Determining Endogenous AR Activity.

The Journal of clinical endocrinology and metabolism
2016

The Long-Term Outcome of Boys With Partial Androgen Insensitivity Syndrome and a Mutation in the Androgen Receptor Gene.

The Journal of clinical endocrinology and metabolism
2016

Gender identity and gender of rearing in 46 XY disorders of sexual development.

Indian journal of endocrinology and metabolism
2017

46,XY disorder of sex development (DSD) due to 17β-hydroxysteroid dehydrogenase type 3 deficiency.

The Journal of steroid biochemistry and molecular biology
2016

A Novel Mutation in Human Androgen Receptor Gene Causing Partial Androgen Insensitivity Syndrome in a Patient Presenting with Gynecomastia at Puberty.

Journal of clinical research in pediatric endocrinology
2016

Sigmoid vaginoplasty in testicular feminising syndrome: surgical technique, outcome and review of the literature.

BMJ case reports
2016

Endocrine and molecular investigations in a cohort of 25 adolescent males with prominent/persistent pubertal gynecomastia.

Andrology
2016

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

Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology
2016

Topical dihydrotestosterone to treat micropenis secondary to partial androgen insensitivity syndrome (PAIS) before, during, and after puberty - a case series.

Journal of pediatric endocrinology &amp; metabolism : JPEM
2015

Partial androgen insensitivity syndrome with persistent müllerian remnants. A case report.

Endocrinologia y nutricion : organo de la Sociedad Espanola de Endocrinologia y Nutricion
2015

Invasive Ductal Carcinoma in a 46,XY Partial Androgen Insensitivity Syndrome Patient on Hormone Therapy.

Journal of pediatric and adolescent gynecology
2015

Subjective need for psychological support (PsySupp) in parents of children and adolescents with disorders of sex development (dsd).

European journal of pediatrics
2015

Kennedy's disease and partial androgen insensitivity syndrome. Report of 4 cases and literature review.

Endocrinologia y nutricion : organo de la Sociedad Espanola de Endocrinologia y Nutricion
2015

Screening for mutations in 17β-hydroxysteroid dehydrogenase and androgen receptor in women presenting with partially virilised 46,XY disorders of sex development.

European journal of endocrinology
Ver todos os 87 no EuropePMC

Associações

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Doenças relacionadas

Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico

Ordenadas pelo número de sintomas em comum.

Referências e fontes

Bases de dados externas citadas neste artigo

Publicações científicas

Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.

  1. Laparoscopic transabdominal pre-peritoneal hernia repair with bilateral orchidectomy in partial androgen insensitivity syndrome.
    Journal of minimal access surgery· 2026· PMID 41859946mais citado
  2. Genetic variants, clinical characteristics, and surgical treatments of 46 children with androgen insensitivity syndrome.
    Asian journal of andrology· 2026· PMID 41504504mais citado
  3. Clinical, Hormonal, and Genetic Spectrum of 46 XY Disorders of Sexual Development (DSD) Patients.
    Indian journal of pediatrics· 2025· PMID 38761274mais citado
  4. Case Report: Laparoscopic vaginoplasty in a case of partial androgen insensitivity syndrome and a literature review of 16 cases in China.
    Frontiers in surgery· 2025· PMID 41450767mais citado
  5. Partial Androgen Insensitivity Syndrome and Congenital Adrenal Hyperplasia-A Case Report of the Coexistence of Two Rare Diseases in One Patient.
    Reports (MDPI)· 2025· PMID 41283580mais citado
  6. Familial novel androgen receptor gene variant associated with bilateral cryptorchidism and severe male infertility: A case report.
    Urol Case Rep· 2025· PMID 41142184recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:90797(Orphanet)
  2. OMIM OMIM:307300(OMIM)
  3. MONDO:0010720(MONDO)
  4. GARD:5692(GARD (NIH))
  5. Variantes catalogadas(ClinVar)
  6. Busca completa no PubMed(PubMed)
  7. Q2037224(Wikidata)

Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.

Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar

Insensibilidade parcial aos androgênios
Compêndio · Raras BR

Insensibilidade parcial aos androgênios

ORPHA:90797 · MONDO:0010720
Prevalência
Unknown
Herança
X-linked recessive
CID-10
E34.5 · Síndrome de resistência a andrógenos
CID-11
Ensaios
1 ativos
Início
All ages
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C0268301
EuropePMC
Wikidata
Papers 10a
DiscussaoAtiva

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