Assuntos
Síndrome de Resistência a Andrógenos , Consenso , Humanos , Síndrome de Resistência a Andrógenos/diagnóstico , Síndrome de Resistência a Andrógenos/terapia , Masculino , Criança , Feminino , Adolescente , Diagnóstico Diferencial , Receptores Androgênicos/genética , Prognóstico , Identidade de Gênero , Androgênios/uso terapêuticoRESUMO
PURPOSE: Androgen insensitivity syndrome (AIS) is a disorder characterized by peripheral androgen resistance due to androgen receptor mutations in subjects with 46 XY karyotype. The severity of hormone resistance (complete, partial or mild) determines the wide spectrum of phenotypes. METHODS: We performed a literature review on Pubmed focusing on etiopathogenesis, molecular alterations, and diagnostic-therapeutic management. RESULTS: AIS is determined by a large variety of X-linked mutations that account for the wide phenotypic spectrum of subjects; it represents one of the most frequent disorders of sexual development (DSD). Clinical suspicion can arise at birth in partial AIS, due to the presence of variable degrees of ambiguity of the external genitalia, and at pubertal age in complete AIS, due to the development of female secondary sex characteristics, primary amenorrhea, and absence of female primary sex characteristics (uterus and ovaries). Laboratory tests showing elevated LH and testosterone levels despite mild or absent virilization may be helpful, but diagnosis can be achieved only after genetic testing (karyotype examination and androgen receptor sequencing). The clinical phenotype and especially the decision on sex assignment of the patient, if the diagnosis is made at birth or in the neonatal period, will guide the following medical, surgical and psychological management. CONCLUSIONS: For the management of AIS, a multidisciplinary team consisting of physicians, surgeons, and psychologists is highly recommended to support the patient and his/her family on gender identity choices and subsequent appropriate therapeutic decisions.
Assuntos
Síndrome de Resistência a Andrógenos , Humanos , Recém-Nascido , Masculino , Feminino , Síndrome de Resistência a Andrógenos/diagnóstico , Síndrome de Resistência a Andrógenos/genética , Síndrome de Resistência a Andrógenos/terapia , Receptores Androgênicos/genética , Identidade de Gênero , Mutação , AndrogêniosRESUMO
Background: Complete androgen insensitivity syndrome (CAIS) is a sexual differentiation disorder, caused by a defect in the androgen receptor gene (AR; OMIM# 313700). It is characterized by the resistance of target tissues to the action of testosterone, which prevents normal male genital development. The objective is to describe a family case of CAIS and highlight the importance of multidisciplinary medical management and early diagnosis of this syndrome. Clinical case: We present two cases of SICA in a Mexican family. Case 1: 18-year-old female patient with primary amenorrhea and a history of surgery at an early age, without performing gonadectomy. Case 2: 11-year-old female patient who, due to the history of her sister, underwent surgery at that age. In both patients, absence of uterus and ovaries, hypoplastic vagina and male gonads is reported. The 46,XY karyotype was detected with the GTG and CBG band technique and fluorescent in situ hybridization with the presence of the Y chromosome in 100% of the cells analyzed. Although both patients were identified with their assigned sex, they were referred to the institution's psychiatric clinic. Conclusions: The importance of multidisciplinary management for the diagnosis of SICA at an early age is discussed, in order to make decisions regarding the treatment and management of patients, avoiding malignant transformation of the male gonads.
Introducción: el síndrome de insensibilidad completa a los andrógenos (SICA) es un desorden de la diferenciación sexual, causado por un defecto en el gen receptor de andrógenos (AR; OMIM# 313700). Se caracteriza por la resistencia de los tejidos diana a la acción de la testosterona, lo que impide el desarrollo genital masculino de manera normal. El objetivo es describir un caso familiar de SICA y destacar la importancia del manejo médico multidisciplinario y el diagnóstico temprano de este síndrome. Caso clínico: presentamos dos casos de SICA en una familia mexicana. Caso 1: paciente de 18 años con amenorrea primaria y antecedente de intervención quirúrgica a edad temprana, sin realizarle gonadectomía. Caso 2: paciente de 11 años que debido al antecedente de su hermana fue intervenida quirúrgicamente a esa edad. En ambas pacientes, se reporta ausencia de útero y ovarios, vagina hipoplásica y gónadas masculinas. El cariotipo 46,XY fue detectado con técnica de bandas GTG y CBG e hibridación in situ fluorescente con presencia del cromosoma Y en el 100% de las células analizadas. Aunque ambas se identificaban con su sexo de asignación, fueron referidas a consulta de psiquiatría de la institución. Conclusiones: se discute la importancia del manejo multidisciplinario para el diagnóstico de SICA a edades tempranas con la finalidad de tomar decisiones respecto al tratamiento y manejo de las pacientes y evitar la malignización de las gónadas masculinas.
Assuntos
Síndrome de Resistência a Andrógenos , Humanos , Feminino , Masculino , Adolescente , Criança , Síndrome de Resistência a Andrógenos/diagnóstico , Síndrome de Resistência a Andrógenos/terapia , Síndrome de Resistência a Andrógenos/genética , Hibridização in Situ Fluorescente , OvárioRESUMO
El síndrome de insensibilidad a andrógenos (AIS en la sigla inglesa) es una entidad muy poco frecuente en endocrinología. Se caracteriza por la mutación del receptor de andrógenos de magnitud variable, por medio del cual individuos 46,XY no se virilizan normalmente, a pesar de conservar sus testículos y tener concentraciones de testosterona en rango masculino. El cuadro clínico es variable y depende la profundidad de la alteración del receptor. En un extremo, hay casos de insensibilidad androgénica completa (CAIS) con fenotipo femenino. En el otro extremo hay insensibilidad parcial (PAIS) que se extiende desde el fenotipo femenino, con o sin ambigüedad genital, hasta los casos de hombres infértiles o con subvirilización, que presentan insensibilidad androgénica más leve. En los fenotipos femeninos, los testículos suelen estar en posición ectópica y aquellos ubicados dentro del abdomen tienen riesgo de malignizarse, por lo que suelen extirparse. Estos son los casos de más difícil manejo, pues aparte de la necesidad de gonadectomía seguida de terapia hormonal femenina, existe una vagina estrecha y en fondo de saco ciego y que suele requerir corrección quirúrgica para permitir la actividad sexual. En este trabajo presentamos 5 casos de AIS vistos recientemente en 2 centros clínicos de Santiago y que ilustran la heterogeneidad de presentación. Además, hacemos una revisión actualizada de los criterios diagnósticos, los tratamientos más adecuados y el manejo global de esta condición.
The Androgen insensitivity syndrome (AIS, in its English acronym) is a very rare entity in endocrinology. It is characterized by a variable magnitude androgen receptor mutation, whereby 46, XY individuals are not normally virilized, despite retaining their testicles and having testosterone concentrations in the male range. The clinical picture is variable and depends on the depth of the receptor alteration. At one extreme, there are cases of complete androgenic insensitivity (CAIS) with a female phenotype. At the other extreme, there is partial insensitivity (PAIS) that extends from the female phenotype, with or without genital ambiguity, to cases of infertile or undervirilized men, who have milder androgenic insensitivity. In female phenotypes, the testes are usually in an ectopic position and those located within the abdomen are at risk of malignancy, and therefore are usually removed. These are the most difficult cases to manage because apart from the need for gonadectomy followed by female hormonal therapy, there is a narrow vagina and a deep blind pouch that usually requires surgical correction to allow sexual activity. In this work, we present 5 cases of AIS recently seen in 2 clinical centers in Santiago and that illustrate the heterogeneity of presentation. In addition, we make an updated review of the diagnostic criteria, the most appropriate treatments, and the overall management of this condition.
Assuntos
Humanos , Feminino , Adolescente , Adulto , Pessoa de Meia-Idade , Adulto Jovem , Síndrome de Resistência a Andrógenos/diagnóstico , Fenótipo , Transtornos do Desenvolvimento Sexual , Síndrome de Resistência a Andrógenos/genética , Síndrome de Resistência a Andrógenos/terapia , Testículo , Imageamento por Ressonância Magnética , Receptores Androgênicos , Tomografia Computadorizada por Raios X , Diagnóstico DiferencialRESUMO
BACKGROUND: Deficiency of 17ß-hydroxysteroid dehydrogenase type 3 (17ß-HSD3) is a rare autosomal recessive 46,XY disorder of sex development (DSD). It is due to pathogenetic variants in the HSD17B3 gene. Mutated genes encode an abnormal enzyme with absent or reduced ability to convert Δ4-androstenedione (Δ4-A) to testosterone (T) in the fetal testis. Affected individuals are usually raised as females and diagnosis is made at puberty, when they show virilization. METHODS: A girl with a presumptive diagnosis of complete androgen insensitivity syndrome underwent endocrine and genetic assessment. Long-term follow-up was reported. RESULTS: The diagnosis of 17ß-HSD3 deficiency was made (stimulated T/Δ4-A ratio: 0.15; HSD17B3 gene analysis: c.277+4A>T in intron 3/c.640_645del (p.Glu214_Glu215del) in exon 9. After extensive information, parents decided to maintain female sex. Gonadal removal was performed and histological evaluation demonstrated deep fibrosis of testicular tissue. Follow-up till 8.5 years of age showed somatic and neuro-psychological development fitting with the female sex. CONCLUSIONS: Management of a child with the rare 17ß-HSD3 deficiency remains challenging. Any decision must be carefully evaluated with parents. Long-term follow-up must be warranted by a multidisciplinary DSD team to evaluate the adequacy of the choices made on quality of life in later life.
Assuntos
17-Hidroxiesteroide Desidrogenases/genética , Síndrome de Resistência a Andrógenos/genética , Síndrome de Resistência a Andrógenos/terapia , 17-Hidroxiesteroide Desidrogenases/deficiência , Criança , Desenvolvimento Infantil/fisiologia , Pré-Escolar , Transtorno 46,XY do Desenvolvimento Sexual/genética , Feminino , Seguimentos , Humanos , Itália , Masculino , Procedimentos de Readequação Sexual/métodos , Testículo/cirurgiaRESUMO
In patients with Mayer-Rokitansky-Küster-Hauser syndrome and complete androgen insensitivity syndrome (CAIS), management of vaginal hypoplasia includes non-surgical or surgical vaginal elongation techniques. For these patients, primary vaginal dilation is considered a first-line option to avoid the risks of having surgery and complications that may occur due to these procedures. Non-surgical dilation is a highly successful treatment if treatment is initiated when the patient is emotionally mature and ready. Here, we present a case of CAIS with vaginal hypoplasia managed successfully with non-surgical dilation therapy.
Assuntos
Síndrome de Resistência a Andrógenos/terapia , Vagina/anormalidades , Adolescente , Tratamento Conservador , Dilatação , Feminino , Humanos , MasculinoRESUMO
Reports exist regarding a gradual approach to the care of patients with differences of sexual development. Each patient and family have different values and styles of learning that have to be taken into account. The goals of care should include education about the condition, counseling of the patient and family, and a complete outlining of treatment options. Motivated by a call from the 2010 Health Reform Law for the use of shared decision-making tools and the emphasis placed on these issues by the DSD Consensus Statement, we sought to develop and implement such tools for the DSD population.1-3 Thus, we developed an organized checklist for providers to share with a patients and families affected by CAIS, beginning with the initial visit. The development of the document enlisted input from physicians, clinical coordinator, advocacy groups and affected individuals. It allows providers to explain the process of care and develop a plan for delivery of that care over multiple visits spanning six months or more. The checklist is divided into five sections: 1) An overview addressing how much information is desired and in what manner the patient prefers to obtain information; 2) A preferred words list so that the patient can choose nomenclature that is most comfortable; 3) A list of topics to review over the course of multiple visits; 4) A list of questions to be answered by the providers or other resources over time, and; 5) A list of concerns to be addressed before surgical intervention is considered. An organized approach to long-term delivery of compassionate care and accurate information can be facilitated for patients with CAIS by the use of a shared decision-making checklist. Documentation of the care delivery process can stimulate referral to peer support and promote fully informed consent for treatment decisions. The use of the checklist should encourage trust in the provider, as well as aid in identifying and addressing stressors for the patient and family. The checklist will be updated and revised as new treatments and advanced technology emerges.
Assuntos
Síndrome de Resistência a Andrógenos/terapia , Lista de Checagem , Tomada de Decisão Compartilhada , Educação de Pacientes como Assunto , Humanos , MasculinoAssuntos
Síndrome de Resistência a Andrógenos/diagnóstico , Hérnia Inguinal/diagnóstico , Síndrome de Resistência a Andrógenos/complicações , Síndrome de Resistência a Andrógenos/terapia , Apendicite/diagnóstico por imagem , Celulite (Flegmão)/diagnóstico por imagem , Criança , Diagnóstico Diferencial , Feminino , Hérnia Inguinal/complicações , Hérnia Inguinal/cirurgia , Herniorrafia , Humanos , Masculino , Tomografia Computadorizada por Raios X , UltrassonografiaRESUMO
The term primary gonadal failure encompasses not only testicular insufficiency in 46,XY males and ovarian insufficiency in 46,XX females, but also those disorders of sex development (DSD) which result in gender assignment that is at variance with the genotype and gonadal type. In boys, causes of gonadal failure include Klinefelter and other aneuploidy syndromes, bilateral cryptorchidism, testicular torsion, and forms of 46,XY DSD such as partial androgen insensitivity. Causes in girls include Turner syndrome and other aneuploidies, galactosemia, and autoimmune ovarian failure. Iatrogenic causes in both boys and girls include the late effects of childhood cancer treatment, total body irradiation prior to bone marrow transplantation, and iron overload in transfusion-dependent thalassaemia. In this paper, a brief description of the physiology of testicular and ovarian development is followed by a section on the causes and practical management of gonadal impairment in boys and girls. Protocols for pubertal induction and post-pubertal hormone replacement - intramuscular, oral and transdermal testosterone in boys; oral and transdermal oestrogen in girls - are then given. Finally, current and future strategies for assisted conception and fertility preservation are discussed.
Assuntos
Síndrome de Resistência a Andrógenos/terapia , Transtornos do Desenvolvimento Sexual/terapia , Insuficiência Ovariana Primária/terapia , Criança , Feminino , Preservação da Fertilidade , Humanos , MasculinoRESUMO
OBJECTIVE: We provide a review of the literature about the Androgen Insensitivity Syndrome (AIS), its onset and associated developmental anomalies and the genetic alterations causing it. MATERIALS AND METHODS: We searched PubMed with a larger emphasis on the physiology, genetics and current management of AIS. RESULTS: AIS is an X-linked recessive Disorder of Sex Development (DSD). It is caused by mutations of the Androgen Receptor, and their large amount and heterogeneity (missense and nonsense mutations, splicing variants, deletions, and insertions) are responsible for the wide spectrum of possible phenotypes of patients, divided into Partial AIS (PAIS) and Complete AIS (CAIS). Once the clinical and laboratory investigations have laid the foundation for a diagnostic hypothesis, it is important to identify the actual karyotype of the individual and search for the mutation in the Androgen Receptor to diagnose with certainty the syndrome. Alternatively, in the absence of such evidence, the diagnosis should more properly be an AIS-like condition, which we describe as well in our report. CONCLUSIONS: The management of this DSD is based on pharmacotherapies, surgery and psychological support: all of them must be directed to facilitate the patient's life, considering his/her sexual identity.
Assuntos
Síndrome de Resistência a Andrógenos/genética , Mutação , Receptores Androgênicos/genética , Síndrome de Resistência a Andrógenos/diagnóstico , Síndrome de Resistência a Andrógenos/terapia , Humanos , MasculinoRESUMO
Androgenic insensitivity syndrome is the most common cause of disorders of sexual differentiation in 46,XY individuals. It results from alterations in the androgen receptor gene, leading to a frame of hormonal resistance, which may present clinically under 3 phenotypes: complete (CAIS), partial (PAIS) or mild (MAIS). The androgen receptor gene has 8 exons and 3 domains, and allelic variants in this gene occur in all domains and exons, regardless of phenotype, providing a poor genotype - phenotype correlation in this syndrome. Typically, laboratory diagnosis is made through elevated levels of LH and testosterone, with little or no virilization. Treatment depends on the phenotype and social sex of the individual. Open issues in the management of androgen insensitivity syndromes includes decisions on sex assignment, timing of gonadectomy, fertility, physcological outcomes and genetic counseling.
Assuntos
Síndrome de Resistência a Andrógenos/genética , Síndrome de Resistência a Andrógenos/terapia , Síndrome de Resistência a Andrógenos/fisiopatologia , Feminino , Terapia de Reposição Hormonal , Humanos , Masculino , FenótipoRESUMO
ABSTRACT Androgenic insensitivity syndrome is the most common cause of disorders of sexual differentiation in 46,XY individuals. It results from alterations in the androgen receptor gene, leading to a frame of hormonal resistance, which may present clinically under 3 phenotypes: complete (CAIS), partial (PAIS) or mild (MAIS). The androgen receptor gene has 8 exons and 3 domains, and allelic variants in this gene occur in all domains and exons, regardless of phenotype, providing a poor genotype - phenotype correlation in this syndrome. Typically, laboratory diagnosis is made through elevated levels of LH and testosterone, with little or no virilization. Treatment depends on the phenotype and social sex of the individual. Open issues in the management of androgen insensitivity syndromes includes decisions on sex assignment, timing of gonadectomy, fertility, physcological outcomes and genetic counseling.
Assuntos
Humanos , Masculino , Feminino , Síndrome de Resistência a Andrógenos/genética , Síndrome de Resistência a Andrógenos/terapia , Fenótipo , Síndrome de Resistência a Andrógenos/fisiopatologia , Terapia de Reposição HormonalRESUMO
El síndrome de insensibilidad a los andrógenos se caracteriza por un cariotipo 46 XY con gónadas masculinas pero con una presentación fenotípica variable, con presencia de genitales ambiguos, que puede ir desde una feminización de completa a leve (hipospadias); está causado por una anomalía genética en el receptor de andrógenos localizado en el cromosoma X, lo que genera una resistencia a la acción de los andrógenos. Se presenta un caso de síndrome de insensibilidad a los andrógenos con estudio cito-genético y su posterior seguimiento (AU)
The androgen insensitivity síndrome it is characterized by a karyotype 46 XY with male gonads, but with a variable phenotypic presentation, with the presence of ambiguous genitalia, Which can range from mild to complete feminization. It is caused by a genetic defect in the androgen receptor located on the X chromosome, which generates a resistance to the action of androgens. A case of androgen insensitivity syndrome is presented With cyto-genetic study, and the subsequent monitoring (AU)
Assuntos
Humanos , Masculino , Lactente , Hipospadia , Síndrome de Resistência a Andrógenos/terapia , Diferenciação Sexual , Cariótipo AnormalRESUMO
Genetic, gonadal, phenotypic and psychological genderis the basis for gender assignment to an individual. Derangement in genetic makeup, under or over exposure to sex hormones and problems related to sex hormone receptors will lead to abnormal development of the external and internal genitalia. Failure to respond for the endogenous androgen, Androgen Insensitivity Syndrome is one of the common causes of genital ambiguity and intersex. In this case series we have presented three girls from a family of seven children visited Tikur Anbassa Specialized Hospital (TASH) with a complaint of primary amenorrhea and diagnosed to have androgen insensitivity syndrome. Their clinical presentation, relevant laboratory and histopathologic findings, karyotype and genetic analysis results are summarized. Potential causes and treatment options are discussed.
Assuntos
Síndrome de Resistência a Andrógenos/genética , Irmãos , Adolescente , Síndrome de Resistência a Andrógenos/terapia , Etiópia , Feminino , Humanos , Masculino , Adulto JovemRESUMO
Androgen insensitivity syndrome (AIS) is an undervirilization syndrome in individuals with 46, XY karyotype. The undervirilization can be complete feminization or incomplete virilization with grades of ambiguity. AIS is caused by mutations in the androgen receptor, resulting in resistance to the physiologic activities of androgens. Differing degrees of resistance lead to three phenotypes: a complete form with female-appearing external genitalia, a partial form with a wide range of virilization, and a mild form with only minor undervirilization. AIS presents different challenges depending on whether resistance is complete or partial. Challenges include sex assignment, which impacts other medical decisions such as gonadectomy, hormonal replacement, and other surgical interventions. This review describes medical, psychosocial, and ethical concerns for each stage of development in complete and partial AIS, from the neonatal period to adulthood. These aspects of care should be addressed within an ethical framework by a multidisciplinary team, with the patients and families being the stakeholders in the decision-making process. We use the GRADE system when appropriate to appraise the existing evidence and provide recommendations and guidelines for management of AIS and appropriate transition of patients from pediatric to adult care.
Assuntos
Síndrome de Resistência a Andrógenos/terapia , Adolescente , Adulto , Síndrome de Resistência a Andrógenos/fisiopatologia , Síndrome de Resistência a Andrógenos/psicologia , Androgênios/uso terapêutico , Criança , Pré-Escolar , Revelação , Transtornos do Desenvolvimento Sexual , Estrogênios/uso terapêutico , Feminino , Genitália , Gônadas/cirurgia , Humanos , Lactente , Recém-Nascido , Consentimento Livre e Esclarecido , Masculino , Neoplasias/etiologia , Fenótipo , Puberdade , Fatores de Risco , Procedimentos de Readequação Sexual , Fatores de TempoRESUMO
AIM: To report on six cases of the diagnosis and treatment of patients with complete androgen insensitivity syndrome (CAIS) and a review of the relevant published work. METHODS: A retrospective analysis was performed on the clinical features, diagnosis and treatment of a total of six patients with CAIS who were admitted to our hospital between September 1985 and June 2012. All surgical patients were examined for sex chromosomes and sex hormone levels pre- and postoperatively, respectively, and underwent lower abdominal B ultrasounds and pathological examinations among other tests. RESULTS: Five of the patients were treated with castration, one patient aged 5 years was treated conservatively Tissue from surgical resections showed normal testicular tissue that comprised Leydig cells and Sertoli cells, and pathological examinations showed no sign of testicular cancer. Following corrective operations, postoperative complications, such as female secondary sexual characteristics, stagnation and osteoporosis, have not developed. Sex hormone level ratio changed significantly after being treated with castration compared with preoperative levels; mainly testosterone and estrogen decreased significantly (P < 0.05), while luteinizing hormone and follicle-stimulating hormone significantly increased (P < 0.05). However, prolactin did not change significantly (P > 0.05). CONCLUSION: The study show that removal of the testes in CAIS patients after puberty is safe and reliable. Meanwhile, it is essential to provide a hormone drug after being treated with castration. Further studies are needed to evaluate the safety and the quality of life for CAIS patients.
Assuntos
Síndrome de Resistência a Andrógenos/fisiopatologia , Adolescente , Adulto , Síndrome de Resistência a Andrógenos/diagnóstico , Síndrome de Resistência a Andrógenos/genética , Síndrome de Resistência a Andrógenos/terapia , Criança , Pré-Escolar , China , Diagnóstico Diferencial , Genes Recessivos , Hospitais Públicos , Humanos , Masculino , Mutação , Receptores Androgênicos/genética , Índice de Gravidade de Doença , Adulto JovemRESUMO
OBJECTIVE: Presentation of a familiar incidence of complete androgen insensitivity syndrome. DESIGN: Case report with literature review. SETTING: Department of Gynecology and Obstetrics, Department of Pediatrics, Medical Faculty and University Hospital in Pilsen, Charles University in Prague. CONCLUSION: Androgen insensitivity syndrome is the most common male-hermaphroditism. Affected individuals have a male karyotype, but owing to the unresponsiveness of the cells to androgens a disruption in sexual development occurs. Clinical picture of the syndrome is very variable. Our case-report deals with a familiar incidence of complete androgen insensitivity syndrome, formerly incorrectly called "testicular feminization syndrome". The karyotype of these individuals is 46, XY. They have female external genitalia, male gonads, the uterus and fallopian tubes are missing and vagina is shorter. In this case, the complete androgen insensitivity syndrome was diagnosed in two sisters in childhood as a part of reduced growth investigation. The same syndrome was also detected in their mothers sister. Both girls already underwent laparoscopic gonadectomy. The older one started at the age of 11 with estrogen replacement therapy.
Assuntos
Síndrome de Resistência a Andrógenos/diagnóstico , Terapia de Reposição de Estrogênios/métodos , Laparoscopia/métodos , Ovariectomia/métodos , Síndrome de Resistência a Andrógenos/genética , Síndrome de Resistência a Andrógenos/terapia , Criança , Feminino , Humanos , Cariotipagem , MasculinoRESUMO
AIM: In order to verify androgen-insensitivity syndrome (AIS) for three individuals and their mothers, genetic diagnosis was performed after genetic counseling. METHODS: Polymerase chain reaction analysis was used for each exon of the androgen receptor (AR Xq11-q12) gene. The amplified DNA fragments were detected by gel electrophoresis. The DNA fragments were sequenced and their sequences were compared with those in a database (The Androgen Receptor Gene Mutations Database World Wide Web Server). RESULTS: A missense mutation was identified in exon 7 in case 1, deletions of exons 1 and 2 were identified in case 2, and a nonsense mutation was identified in the triplet repeat region of exon 1 in case 3. The mothers of the patients were also verified to be carriers of the mutations. CONCLUSION: Genetic diagnosis is a very useful method for diagnosing AIS. However, genetic counseling, including emotional support for the mother, is an essential component of genetic diagnosis.
Assuntos
Síndrome de Resistência a Andrógenos/genética , Códon sem Sentido , Deleção de Genes , Aconselhamento Genético , Mutação de Sentido Incorreto , Receptores Androgênicos/genética , Adolescente , Síndrome de Resistência a Andrógenos/diagnóstico , Síndrome de Resistência a Andrógenos/terapia , Éxons , Feminino , Heterozigoto , Humanos , Japão , Masculino , MãesRESUMO
Amenorrhea is a common menstrual problem seen in adolescents. Amenorrhea has been shown to have a negative impact on adolescents' quality of life. In this paper we discuss the various causes and investigations of amenorrhea in adolescents and address management dilemmas for specific conditions. Specific approaches in dealing with adolescents using the HEADSS (Home, Education, Activity, Drugs, Sexual activity, Suicidal) approach are discussed.