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1.
J Pediatr Endocrinol Metab ; 31(2): 223-228, 2018 Jan 26.
Article in English | MEDLINE | ID: mdl-29267169

ABSTRACT

BACKGROUND: Androgen insensitivity syndrome (AIS) is the most frequent etiology of 46,XY disorders of sex development (DSDs), and it is an X-linked disorder caused by mutations in the androgen receptor (AR) gene. AIS patients present a broad phenotypic spectrum and individuals with a partial phenotype present with different degrees of undervirilized external genitalia. There are more than 500 different AR gene allelic variants reported to be linked to AIS, but the presence of somatic mosaicisms has been rarely identified. In the presence of a wild-type AR gene, a significant degree of spontaneous virilization at puberty can be observed, and it could influence the gender assignment, genetic counseling and the clinical and psychological management of these patients and the psychosexual outcomes of these patients are not known. CASE PRESENTATION: In this study, we report two patients with AR allelic variants in heterozygous (c.382G>T and c.1769-1G>C) causing a partial AIS (PAIS) phenotype. The first patient was raised as female and she had undergone a gonadectomy at puberty. In both patients there was congruency between gender of rearing and gender identity and gender role. CONCLUSIONS: Somatic mosaicism is rare in AIS and nonsense AR variant allelic can cause partial AIS phenotype in this situation. Despite the risk of virilization and prenatal androgen exposure, the gender identity and gender role was concordant with sex of rearing in both cases. A better testosterone response can be expected in male individuals and this should be considered in the clinical management.


Subject(s)
Androgen-Insensitivity Syndrome/genetics , Codon, Nonsense , Mosaicism , Receptors, Androgen/genetics , Adult , Androgen-Insensitivity Syndrome/physiopathology , Androgen-Insensitivity Syndrome/psychology , Androgen-Insensitivity Syndrome/surgery , Brazil , Castration , Computational Biology , Expert Systems , Female , Gender Identity , Humans , Male , Severity of Illness Index
2.
Int Braz J Urol ; 38(3): 380-6; discussions 387-8, 2012.
Article in English | MEDLINE | ID: mdl-22765864

ABSTRACT

PURPOSE: To assess the use of sigmoid colon in vaginal reconstruction of some patients with disorders of sex development. MATERIALS AND METHODS: The study included 31 patients with disorders of sex development of various causes. All were reared as females. Female gender was decided for all cases after complete medical assessment. All patients underwent sigmoid vaginoplasty. Assessment of surgical and functional outcomes was carried out in a follow-up period of up to 6 years. RESULTS: The preoperative diagnoses included mullerian aplasia (16 cases), androgen insensitivity syndrome (12 cases) and previous failed vaginoplasty (3 cases). Associated surgical procedures were gonadectomy in 5 cases and gonadectomy combined with clitoroplasty and vulvoplasty in 7 cases. No intra-operative or early postoperative complications occurred. A cosmetic neovagina with adequate size was achieved in all cases. Long term follow-up showed introital stenosis in 4 cases (12.9 %). Two of them responded to vaginal dilatation. The third one needed y-v plasty while the fourth one presented by acute abdomen secondary to ruptured vagina and was submitted to urgent laparotomy. Mucosal prolapse occurred in 1 case (3.2 %). Reoperation rate was 9.6 %. Sexual satisfaction was achieved among 9 sexually active cases. The subjective satisfaction score of the surgical outcome was 8.03. CONCLUSIONS: For patients with disorders of sex development of various etiologies, sigmoid vaginoplasty is the preferred technique for vaginal replacement. It is a safe technique that provides the patient with a cosmetic neovagina of adequate caliber and a satisfactory functional outcome.


Subject(s)
46, XX Disorders of Sex Development/surgery , Androgen-Insensitivity Syndrome/surgery , Colon, Sigmoid/transplantation , Congenital Abnormalities/surgery , Vagina/abnormalities , Vagina/surgery , Adolescent , Adult , Female , Gynecologic Surgical Procedures/methods , Humans , Male , Mullerian Ducts/abnormalities , Mullerian Ducts/surgery , Operative Time , Patient Satisfaction , Postoperative Period , Reproducibility of Results , Time Factors , Treatment Outcome , Young Adult
3.
Int. braz. j. urol ; 38(3): 380-388, May-June 2012. ilus
Article in English | LILACS | ID: lil-643037

ABSTRACT

PURPOSE:To assess the use of sigmoid colon in vaginal reconstruction of some patients with disorders of sex development. MATERIALS AND METHODS: The study included 31 patients with disorders of sex development of various causes. All were reared as females. Female gender was decided for all cases after complete medical assessment. All patients underwent sigmoid vaginoplasty. Assessment of surgical and functional outcomes was carried out in a follow up period of up to 6 years. RESULTS: The preoperative diagnoses included mullerian aplasia (16 cases), androgen insensitivity syndrome (12 cases) and previous failed vaginoplasty (3 cases). Associated surgical procedures were gonadectomy in 5 cases and gonadectomy combined with clitoroplasty and vulvoplasty in 7 cases. No intra-operative or early postoperative complications occurred. A cosmetic neovagina with adequate size was achieved in all cases. Long term follow up showed introital stenosis in 4 cases (12.9 %). Two of them responded to vaginal dilatation. The third one needed y-v plasty while the fourth one presented by acute abdomen secondary to ruptured vagina and was submitted to urgent laparotomy. Mucosal prolapse occurred in 1 case (3.2%). Reoperation rate was 9.6%. Sexual satisfaction was achieved among 9 sexually active cases. The subjective satisfaction score of the surgical outcome was 8.03. CONCLUSIONS: For patients with disorders of sex development of various etiologies, sigmoid vaginoplasty is the preferred technique for vaginal replacement. It is a safe technique that provides the patient with a cosmetic neovagina of adequate caliber and a satisfactory functional outcome.


Subject(s)
Adolescent , Adult , Female , Humans , Young Adult , /surgery , Androgen-Insensitivity Syndrome/surgery , Colon, Sigmoid/transplantation , Congenital Abnormalities/surgery , Vagina/abnormalities , Vagina/surgery , Gynecologic Surgical Procedures/methods , Mullerian Ducts/abnormalities , Mullerian Ducts/surgery , Operative Time , Patient Satisfaction , Postoperative Period , Reproducibility of Results , Time Factors , Treatment Outcome
4.
Osteoporos Int ; 18(3): 369-74, 2007 Mar.
Article in English | MEDLINE | ID: mdl-17077943

ABSTRACT

INTRODUCTION AND HYPOTHESIS: Androgen insensitivity syndrome (AIS) constitutes a natural model to study effects of androgens and estrogens on growth and bone density. We evaluated height and bone density in patients with AIS with mutations in the androgen receptor (AR) gene. METHODS: A retrospective analysis was conducted of eight subjects with complete AIS (CAIS) and four with partial AIS (PAIS) submitted to gonadectomy followed by estrogen replacement, and three with PAIS who did not undergo gonadectomy. Standing height and bone mineral apparent density (BMAD) by DXA were measured and compared with male (z (m)) and female (z (f)) reference populations. The z-scores were compared with a value of zero using the one-sample t-test. RESULTS: Final heights of patients with CAIS and PAIS were intermediate between those predicted for females and males. BMAD of the lumbar spine in CAIS and PAIS after gonadectomy and estrogen replacement (z (f) = - 1.56 +/- 1.04, P = 0.006, and z (m) = - 0.75 +/- 0.89, P = 0.04) indicated vertebral bone deficit, whereas BMAD at the femoral neck was normal. No patient reported fractures. CONCLUSION: Subjects with AIS had mean final height intermediate between mean normal male and female, and decreased bone mineral density in the lumbar spine. These data suggest an important role for androgens in normal male growth and bone density not replaced by estrogens.


Subject(s)
Androgen-Insensitivity Syndrome/physiopathology , Body Height/genetics , Bone Density/genetics , Mutation , Receptors, Androgen/genetics , Absorptiometry, Photon , Adolescent , Adult , Androgen-Insensitivity Syndrome/genetics , Androgen-Insensitivity Syndrome/surgery , Castration , Estrogen Replacement Therapy , Female , Femur Neck/physiopathology , Humans , Lumbar Vertebrae/physiopathology , Male , Receptors, Androgen/physiology , Retrospective Studies
8.
Rev. argent. cir ; 76(6): 247-52, jun. 1999. ilus
Article in Spanish | LILACS | ID: lil-241595

ABSTRACT

Antecedentes: El síndrome de insensibilidad a los andrógenos (SIA) es un estadi intersexual que se presenta en pacientes con cariotipo 46XY y testículos bien diferenciados, con genitales exteriores ambiguos o femeninos. Es una variante del pseudohermafroditismo masculino, caracterizada por la insensibilización periférica androgénica completa, por defecto genético del cromosoma X. Los pacientes con SIA han crecido y desarrollado como mujeres debido a la conversión periférica de andrógenos a estrógenos y por falta de receptores androgénicos. Objetivos: Analizar dos casos de SIA en pacientes con constitución cromosónica XY pero fenotípica y socialmente mujeres, cuyos testículos ubicados en el retroperitoneo, fueron extirpados por vía laparoscópica. Población: Se presentan dos pacientes de 16 y 14 años, que consultaron por amenorrea primaria, ambas con buen desarrollo mamario y marcada hipoplasia de genitales externos. Fueron operadas en la primera infancia por hernia inguinal bilateral. Las ecografías mostraban la ausencia o hipoplasia de los genitales internos y la presencia de voluminosos testículos retroperitoneales. Método: Se efectuó un estudio exhaustivo, tanto clínico como hormonal y genético. Confirmado el diagnóstico, se realizó la exéresis gonadal por vía laparoscópica y luego, medicación hormonal sustitutiva. Resultados: Evolución favorable de ambas pacientes con alta sanatorial al día siguiente. El examen histopatológico confirmó el diagnóstico de SIA y el análisis molecular del gen receptor de los andrógenos no demostró la presencia de mutaciones puntuales en los exones estudiados. Conclusiones: Se debe sospechar la presencia de SIA en la post-pubertad y adultez en toda paciente cona amenorrea primaria e histoplasia genital externa, con mamas normales. La exéresis gonadal está indicada por el alto riesgo de malignización. La presencia de testículos en la cavidad abdominal o el retroperitoneo, hace de la técnica laparoscópica el procedimiento de elección. El estudio y tratamiento de esta patología debe ser hecha por un equipo multidisciplinario


Subject(s)
Humans , Adolescent , Male , Disorders of Sex Development/genetics , Androgen-Insensitivity Syndrome/surgery , Amenorrhea/etiology , Disorders of Sex Development , Disorders of Sex Development/genetics , Androgen-Insensitivity Syndrome/physiopathology , Androgen-Insensitivity Syndrome/drug therapy , Genitalia, Female/embryology , Genitalia, Male/embryology , Homosexuality/genetics , Infertility, Female/etiology , Laparoscopy/methods
9.
Rev. argent. cir ; 76(6): 247-52, jun. 1999. ilus
Article in Spanish | BINACIS | ID: bin-15284

ABSTRACT

Antecedentes: El síndrome de insensibilidad a los andrógenos (SIA) es un estadi intersexual que se presenta en pacientes con cariotipo 46XY y testículos bien diferenciados, con genitales exteriores ambiguos o femeninos. Es una variante del pseudohermafroditismo masculino, caracterizada por la insensibilización periférica androgénica completa, por defecto genético del cromosoma X. Los pacientes con SIA han crecido y desarrollado como mujeres debido a la conversión periférica de andrógenos a estrógenos y por falta de receptores androgénicos. Objetivos: Analizar dos casos de SIA en pacientes con constitución cromosónica XY pero fenotípica y socialmente mujeres, cuyos testículos ubicados en el retroperitoneo, fueron extirpados por vía laparoscópica. Población: Se presentan dos pacientes de 16 y 14 años, que consultaron por amenorrea primaria, ambas con buen desarrollo mamario y marcada hipoplasia de genitales externos. Fueron operadas en la primera infancia por hernia inguinal bilateral. Las ecografías mostraban la ausencia o hipoplasia de los genitales internos y la presencia de voluminosos testículos retroperitoneales. Método: Se efectuó un estudio exhaustivo, tanto clínico como hormonal y genético. Confirmado el diagnóstico, se realizó la exéresis gonadal por vía laparoscópica y luego, medicación hormonal sustitutiva. Resultados: Evolución favorable de ambas pacientes con alta sanatorial al día siguiente. El examen histopatológico confirmó el diagnóstico de SIA y el análisis molecular del gen receptor de los andrógenos no demostró la presencia de mutaciones puntuales en los exones estudiados. Conclusiones: Se debe sospechar la presencia de SIA en la post-pubertad y adultez en toda paciente cona amenorrea primaria e histoplasia genital externa, con mamas normales. La exéresis gonadal está indicada por el alto riesgo de malignización. La presencia de testículos en la cavidad abdominal o el retroperitoneo, hace de la técnica laparoscópica el procedimiento de elección. El estudio y tratamiento de esta patología debe ser hecha por un equipo multidisciplinario (AU)


Subject(s)
Humans , Adolescent , Male , Androgen-Insensitivity Syndrome/surgery , Disorders of Sex Development/genetics , Androgen-Insensitivity Syndrome/physiopathology , Androgen-Insensitivity Syndrome/drug therapy , Amenorrhea/etiology , Infertility, Female/etiology , Disorders of Sex Development/genetics , Disorders of Sex Development/diagnostic imaging , Genitalia, Female/embryology , Genitalia, Male/embryology , Homosexuality/genetics , Laparoscopy/methods
10.
Reprod. clim ; 11(1): 45-7, jan.-mar. 1996. ilus, tab
Article in Portuguese | LILACS | ID: lil-165298

ABSTRACT

Relata-se a ocorrência de 5 pacientes com síndrome de feminizaçao testicular forma incompleta, onde sao analisados dados de anamnese e exame físico, exames complementares e histopatológico.


Subject(s)
Humans , Adolescent , Adult , Female , Male , Androgen-Insensitivity Syndrome/diagnosis , Androgen-Insensitivity Syndrome/surgery , Karyotyping , Retrospective Studies
11.
Article in Spanish | LILACS | ID: lil-243445

ABSTRACT

Se presenta el caso clínico de una paciente con síndrome de insensibilidad androgénica completo. Se describen los estudios complementarios, el tratamiento realizado y la anatomía patológica de las gonadas extirpadas. La laparoscopía quirúrgica es una técnica mínimamente invasiva para el manejo terapéutico comparada con la laparotomía. Se revisa la literatura


Subject(s)
Humans , Animals , Female , Adolescent , Androgen-Insensitivity Syndrome/surgery , Disorders of Sex Development/etiology , Disorders of Sex Development/genetics , Estradiol/administration & dosage , Estradiol/therapeutic use , Androgen-Insensitivity Syndrome/diagnosis , Hernia, Inguinal/etiology , Laparoscopy
12.
Article in Spanish | BINACIS | ID: bin-14838

ABSTRACT

Se presenta el caso clínico de una paciente con síndrome de insensibilidad androgénica completo. Se describen los estudios complementarios, el tratamiento realizado y la anatomía patológica de las gonadas extirpadas. La laparoscopía quirúrgica es una técnica mínimamente invasiva para el manejo terapéutico comparada con la laparotomía. Se revisa la literatura (AU)


Subject(s)
Humans , Animals , Female , Adolescent , Androgen-Insensitivity Syndrome/surgery , Androgen-Insensitivity Syndrome/diagnosis , Disorders of Sex Development/genetics , Disorders of Sex Development/etiology , Estradiol/administration & dosage , Estradiol/therapeutic use , Laparoscopy/statistics & numerical data , Hernia, Inguinal/etiology
13.
Ginecol. obstet. Méx ; Ginecol. obstet. Méx;63(3): 112-4, mar. 1995. tab, ilus
Article in Spanish | LILACS | ID: lil-151889

ABSTRACT

Diversos padecimientos cursan con un desarrollo anormal de la vagina que impide la práctica de relaciones sexuales satisfactorias. Múltiples procedimientos tanto quirúrgicos como no quirúrgicos han sido diseñados para corregir esta situación, la operación de Abbe. Wharton-McIndoe es una con la que se han obtenido los mejores resultados, pero tiene la desventaja de que queda una cicatriz estéticamente desagradable en el sitio donde se toma el injerto de piel. La celulosa oxidada regenerada (COR) (Interceed, Johnson-Johnson Med Inc), ha sido utilizada ampliamente en cirugía pélvica para evitar o disminuir la formación de adherencias sin que se haya descrito su uso en otras áreas. Se decidió utilizar este material en vez del injerto de piel al realizar la operación de Abbe-Wharton-McIndoe con la finalidad de permitir la rápida epitelización de la cavidad recién formada además de evitar la toma de injerto. Se informa de cuatro casos de síndrome de Rokitansky en los cuales se creó una vagina con la técnica de McIndoe utilizando COR en vez de injerto de piel. A las 12 semanas del procedimiento observamos una epitelización completa de la cavidad creada con presencia de epitelio vaginal maduro. Se concluye que la COR es una alternativa en vez del injerto de piel, con las ventajas de que no es necesario la toma del injero además de que se logra una completa y rápida epitelización del lecho quirúrgico


Subject(s)
Adult , Humans , Female , Cellulose, Oxidized/therapeutic use , Androgen-Insensitivity Syndrome/surgery , Vagina/abnormalities , Vagina/surgery
14.
Ginecol Obstet Mex ; 62: 269-73, 1994 Sep.
Article in Spanish | MEDLINE | ID: mdl-7959153

ABSTRACT

Testicular feminization is a syndrome due to androgen insensitivity. It occurs in a complete and incomplete form. The case of a 17 years old girl with complete androgen insensitivity syndrome is reported. Patient came to medical attention because of primary amenorrhea as the only pathology, with normal external, female genitalia. Diagnosis, findings, management and a five months follow up, are described, as well as a review of this subject.


Subject(s)
Androgen-Insensitivity Syndrome/diagnosis , Androgens/physiology , Adolescent , Androgen-Insensitivity Syndrome/blood , Androgen-Insensitivity Syndrome/surgery , Combined Modality Therapy , Female , Hormones/blood , Humans , Male , Psychotherapy , Syndrome
15.
Reproduçäo ; 9(2): 153-8, abr.-jun. 1994. tab, graf
Article in Portuguese | LILACS | ID: lil-159828

ABSTRACT

Com o objetivo de apresentar o perfil hormonal, a avaliaçäo diagnóstica e a conduta terapêutica na Síndrome da Insensibilidade Androgênica (SIA), realizamos um estudo de 15 pacientes, incluindo 10 com a forma completa e 5 com a forma incompleta. O diagnóstico foi firmado durante ou após a puberdade em 60 por cento dos casos. Gonadectomia bilateral foi realizada à época do diagnóstico na forma incompleta, e após a puberdade na forma completa. Estrogenioterapia foi mantida na puberdade após gonadectomia. Considerando o perfil hormonal, os níveis de LH estavam elevados em ambos os grupos, o FSH somente na forma incompleta e o E2, T e PRL. Após gonadectomia, o LH e FSH elevaram-se e a T diminuiu, significativamente.


Subject(s)
Humans , Male , Female , Infant , Child, Preschool , Child , Adolescent , Androgens , Androgen-Insensitivity Syndrome/diagnosis , Disorders of Sex Development , Estradiol/blood , Androgen-Insensitivity Syndrome/surgery , Follicle Stimulating Hormone/blood , Hernia, Inguinal/diagnosis , Luteinizing Hormone/blood , Prolactin/blood , Testosterone/blood
16.
Rev. mex. pediatr ; 60(2): 63-6, mar.-abr. 1993. ilus
Article in Spanish | LILACS | ID: lil-121254

ABSTRACT

Se presentan los casos de dos hermanos con síndrome de resistencia a los andrógenos en su variante de feminización testicular. Las edades al momento del diagnóstico fueron 14 y 17 años respectivamente; el más joven de los dos acudió a consulta por una tumoración en la región inguinal que resultó ser un testículo; el hermano fue estudiado porque al realizar su historia clínica se encontró que tenía amenorrea. Se describen los hallazgos físicos, los estudios psicológico y genético, y se explica el tratamiento que se les dio.


Subject(s)
Humans , Female , Androgen-Insensitivity Syndrome/surgery , Disorders of Sex Development/genetics , Testicular Hormones/analysis , Testicular Hormones/genetics , Androgen-Insensitivity Syndrome/genetics
17.
Rev. méd. Hosp. Säo Vicente de Paulo ; 5(11): 29-31, jan.-abr. 1993. ilus
Article in Portuguese | LILACS | ID: lil-138258

ABSTRACT

O presente estudo avaliou quatro irmäs, das quais três apresentavam quadro clínico de forma incompleta de feminizaçäo testicular. Ao exame físico detectou-se clitoromegalia, hirutismo, ausência de desenvolvimento mamário (paciente de 15 anos), vagina curta e de fundo cego, forma do corpo e distribuiçäo de pêlos tipicamente masculinos. A cromatina sexual foi negativa e o cariótiopo 46, XY. Duas primas em primeiro grau, do pai das pacientes, apresentavam o mesmo quadro clínico, quando foram estudads por Pizzaro e cols. em 1976


Subject(s)
Humans , Male , Female , Infant , Child , Adolescent , Androgen-Insensitivity Syndrome/genetics , Androgen-Insensitivity Syndrome/surgery , Androgen-Insensitivity Syndrome/diagnosis
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