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1.
J Pediatr Adolesc Gynecol ; 32(3): 284-287, 2019 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-30114439

RESUMO

STUDY OBJECTIVE: To analyze the spectrum of type I and type II malformations in Chinese patients with Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome. DESIGN, SETTING, PARTICIPANTS, INTERVENTIONS, AND MAIN OUTCOME MEASURES: This was a cross-sectional descriptive study that used data from a National Clinical Research Center for Obstetrical and Gynecological Diseases of China, reviewed from January 2009 to July 2017. Data of in- and outpatients with MRKH syndrome were reviewed and analyzed. RESULTS: A total of 274 cases were included in the analysis: 197/274 (71.9%) with type I MRKH syndrome and the remaining 77/274 (28.1%) with type II MRKH syndrome. The rate of concurrent deformities was 32/244 (13.1%) for renal malformation, and 49/125 (39.2%) for skeletal malformation. Nine patients had renal and skeletal malformations (Müllerian duct aplasia, renal aplasia, and cervicothoracic somite dysplasia). Cardiac, neurologic, and other malformations (eg, anal atresia) were sporadic. The percentage of type II MRKH syndrome in our cohort was considerably higher than that reported 43/594 (7.2%) in a previous large-scale study in southern China, but lower than that 489/1259 (46.2%) reported for Caucasian individuals. CONCLUSION: The spectrum of type I and type II MRKH syndrome varies across different races and geological locations.


Assuntos
Transtornos 46, XX do Desenvolvimento Sexual/epidemiologia , Anormalidades Congênitas/epidemiologia , Ductos Paramesonéfricos/anormalidades , Transtornos 46, XX do Desenvolvimento Sexual/classificação , Anormalidades Múltiplas , Adulto , China/epidemiologia , Estudos de Coortes , Anormalidades Congênitas/classificação , Estudos Transversais , Feminino , Humanos , Rim/anormalidades , Estudos Retrospectivos , Síndrome
2.
J Pediatr Adolesc Gynecol ; 28(1): 6-11, 2015 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-25444050

RESUMO

STUDY OBJECTIVE: The aim of our study was to determine the etiologic distribution of 46,XX disorder of sexual development (DSD) according to the new DSD classification system and to evaluate the clinical features of this DSD subgroup in our patient cohort. PARTICIPANTS: The evaluation criteria and clinical findings of 95 46,XX patients were described by clinical presentation, gonadal morphology, genital anatomy, associated dysmorphic features, presence during prenatal period with/without postnatal virilization, hormonal characteristics, and presence or absence of steroidogenic defects among 319 patients with DSD. RESULTS: Types and ratios of each presentation of our 95 patients with 46,XX DSD were as follows: 82 had androgen excess (86.3%): (74 had classical congenital adrenal hyperplasia, 2 had CAH variant possibility of P450-oxidoreductase gene defect), 6 had disorders of ovarian development (6.3%): (1 patient had gonadal dysgenesis with virilization at birth with bilateral streak gonad, 4 patients had complete gonadal dysgenesis, and 1 patient had ovotesticular DSD) and 7 had other 46,XX DSD. Two sisters, who had 46,XX complete gonadal dysgenesis,were diagnosed with Perrault Syndrome with ovarian failure due to streak gonads and associated with sensorineural deafness. CONCLUSION: 46,XX DSD are usually derived from intrauterine virilization and CAH is the most common cause of 46,XX DSD due to fetal androgen exposure.


Assuntos
Transtornos 46, XX do Desenvolvimento Sexual/etiologia , Hiperplasia Suprarrenal Congênita/complicações , Disgenesia Gonadal/complicações , Transtornos 46, XX do Desenvolvimento Sexual/classificação , Adolescente , Hiperplasia Suprarrenal Congênita/genética , Chicago , Criança , Pré-Escolar , Feminino , Genitália/anormalidades , Disgenesia Gonadal/genética , Humanos , Lactente , Recém-Nascido , Transtornos Ovotesticulares do Desenvolvimento Sexual/complicações , Transtornos Ovotesticulares do Desenvolvimento Sexual/genética , Estudos Retrospectivos , Adulto Jovem
3.
Gene ; 555(1): 33-40, 2015 Jan 15.
Artigo em Inglês | MEDLINE | ID: mdl-25260227

RESUMO

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a congenital defect of the Müllerian ducts characterized by uterovaginal agenesis and underdeveloped female genital organs. This paper is a tribute to the contributors of this condition - August Franz Joseph Karl Mayer, Karl Freiherr von Rokitansky, Hermann Küster and Georges André Hauser. In addition to their contributions, we have discussed findings and reports of similar defects from other important scientists (Hippocrates, Albucasis, etc.) dating as far back as 460B.C. We have also discussed the disease types and different classification systems including VCUAM and AFS/ASRM among others. Even with several surgical and non-surgical treatment options, there are still many questions that remain unanswered and very little is known about the etiology or genetic predisposition of this condition.


Assuntos
Transtornos 46, XX do Desenvolvimento Sexual/genética , Transtornos 46, XX do Desenvolvimento Sexual/história , Anormalidades Congênitas/genética , Anormalidades Congênitas/história , Ductos Paramesonéfricos/anormalidades , Transtornos 46, XX do Desenvolvimento Sexual/classificação , Transtornos 46, XX do Desenvolvimento Sexual/diagnóstico , Animais , Fenda Labial/genética , Fenda Labial/história , Fissura Palatina/genética , Fissura Palatina/história , Anormalidades Congênitas/classificação , Anormalidades Congênitas/diagnóstico , História do Século XVII , História do Século XVIII , História Antiga , História Medieval , Humanos , Deformidades Congênitas dos Membros/genética , Deformidades Congênitas dos Membros/história , Lábio/anormalidades , Doenças Raras/diagnóstico , Doenças Raras/genética , Doenças Raras/história
4.
Fertil Steril ; 96(1): 156-9, 2011 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-21549366

RESUMO

OBJECTIVE: To compare different diagnostic procedures for staging malformations associated with Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome. DESIGN: Retrospective two-center cohort study (Canadian Task Force classification II-2). SETTING: University hospital. PATIENT(S): One hundred and thirty-eight women with MRKH. INTERVENTION(S): Clinical examinations, abdominal or perineal/rectal ultrasound, magnetic resonance imaging (MRI), and laparoscopy. MAIN OUTCOME MEASURE(S): Agreement between the results obtained with the other methods and the results obtained with the reference methods for correct staging of malformations, presented as kappa values (κ). RESULT(S): The VCUAM (vagina cervix uterus adnex-associated malformation) classification system was used to classify genital malformations in 138 women with MRKH. The reference methods for examining the individual organs were: vagina-clinical examination; cervix/uterus and adnexa-laparoscopy; and urinary tract malformations-MRI. The values obtained were as follows. Vagina was κ 0.74 for MRI versus clinical examination; ultrasound and laparoscopy did not allow adequate description of vaginal malformations. Cervical findings were rarely detailed with any of the imaging methods. Uterus was κ 0.93 for MRI versus laparoscopy, and κ 0.83 for ultrasound. For adnexa, only laparoscopy was able to describe the morphology adequately. The urinary tract was κ 0.87 for ultrasound versus MRI. CONCLUSION(S): For the correct staging of malformations associated with MRKH, MRI or a combination of clinical examination and ultrasound are equivalent. However, none of the imaging methods adequately describes adnexal morphology.


Assuntos
Transtornos 46, XX do Desenvolvimento Sexual , Anormalidades Múltiplas , Transtornos 46, XX do Desenvolvimento Sexual/classificação , Transtornos 46, XX do Desenvolvimento Sexual/diagnóstico , Transtornos 46, XX do Desenvolvimento Sexual/diagnóstico por imagem , Anormalidades Múltiplas/classificação , Anormalidades Múltiplas/diagnóstico , Anormalidades Múltiplas/diagnóstico por imagem , Anexos Uterinos/anormalidades , Anexos Uterinos/diagnóstico por imagem , Adolescente , Adulto , Colo do Útero/anormalidades , Colo do Útero/diagnóstico por imagem , Estudos de Coortes , Anormalidades Congênitas , Feminino , Humanos , Rim/anormalidades , Ductos Paramesonéfricos/anormalidades , Estudos Retrospectivos , Somitos/anormalidades , Coluna Vertebral/anormalidades , Ultrassonografia , Útero/anormalidades , Útero/diagnóstico por imagem , Vagina/anormalidades , Vagina/diagnóstico por imagem , Adulto Jovem
5.
J Pediatr Endocrinol Metab ; 23(11): 1123-32, 2010 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-21284325

RESUMO

INTRODUCTION: Disorders of sexual development (DSD) occur when the appearance of the internal and/or external genitalia is at variance with normal development for either sex. We reviewed the characteristics of patients with DSD. PATIENTS: Two hundred and eight children aged from newborn to 19 years with DSD from 1990 to 2008. RESULTS: 46,XY DSD (52.4%) was more common than 46,XX DSD (34.6%) and gonadal differentiation disorders (12.99%). Thirty-six (33.02%) patients were diagnosed with androgen resistance syndrome, 41 (37.61%) had 5alpha-reductase deficiency, 23 (21.10%) had testosterone synthesis disorders. Congenital adrenal hyperplasia was the most frequent underlying cause of 46,XX DSD. CONCLUSION: There are many difficult aspects in the diagnosis and management of DSD. Gender assessment teams of endocrine centers need a multidisciplinary approach for the diagnosis, medical and surgical treatment, genetic counseling, and psychosocial support of these patients.


Assuntos
Transtornos do Desenvolvimento Sexual , Transtornos 46, XX do Desenvolvimento Sexual/classificação , Transtornos 46, XX do Desenvolvimento Sexual/diagnóstico , Transtornos 46, XX do Desenvolvimento Sexual/terapia , Adolescente , Criança , Pré-Escolar , Transtorno 46,XY do Desenvolvimento Sexual/classificação , Transtorno 46,XY do Desenvolvimento Sexual/diagnóstico , Transtorno 46,XY do Desenvolvimento Sexual/terapia , Transtornos do Desenvolvimento Sexual/classificação , Transtornos do Desenvolvimento Sexual/diagnóstico , Transtornos do Desenvolvimento Sexual/terapia , Feminino , Identidade de Gênero , Humanos , Lactente , Recém-Nascido , Masculino , Turquia
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