RESUMO
STUDY OBJECTIVE: To demonstrate the safety, efficacy, and ease of hysteroscopic metroplasty using holmium:YAG (Ho:YAG) laser for treatment of septate uterus. DESIGN: Stepwise demonstration of surgical technique with narrated video footage. SETTING: Septate uterus is the most common type of uterine anomaly. The incidence of uterine septum in women presenting with infertility and recurrent abortions is 15.4% [1,2]. Hysteroscopic septal incision is associated with improvement in live-birth rate in these women [3]. Hysteroscopic metroplasty for septate uterus can be done with the use of scissors and energy sources such as monopolar and bipolar electrosurgery and lasers. Ho:YAG laser is commonly used by urologists for various surgeries because of its "Swiss Army Knife" action of cutting, coagulation, and vaporization [4]. Ho:YAG laser is known for its precision. It causes lesser depth of tissue injury and necrosis and minimal collateral thermal damage compared with the electrosurgical devices and other lasers used for hysteroscopic surgery [5-8]. This is advantageous in hysteroscopic metroplasty given that it reduces the risk of uterine perforation during surgery and hence uterine rupture in the subsequent pregnancy. Reduced collateral damage to the surrounding endometrium helps promote early endometrial healing and prevent postoperative intrauterine adhesions. A 28-year-old patient with history of 2 spontaneous abortions came to our hospital for investigations. 3D transvaginal sonography of the patient showed presence of partial septate uterus with a fundal indentation of 1.5 cm (Supplemental video 1). INTERVENTION: Diagnostic hysteroscopy followed by septal incision using Ho: YAG laser was planned. We used a 2.9 mm BETTOCCHI Hysteroscope (Karl Storz SE & Co.) with a 5 mm operative sheath. Normal saline was used as the distending medium and the intrauterine pressure was maintained at 80 to 100 mm Hg. The procedure was done under total intravenous anesthesia using propofol injection. Vaginoscopic entry into the uterus (without any cervical dilatation) showed evidence of a partial uterine septum with tubal ostia on either side of the septum. A 400 micron quartz fiber was passed through a laser guide into the 5-Fr working channel of the operative hysteroscope. Ho:YAG laser (Auriga XL 50-Watt, Boston Scientific) with power settings of 15 watts (1500 mJ energy at 10 Hz) was used. Incision of the septum was started at the apex of the septum in the midline and continued in a horizontal manner from side to side toward the base (Supplemental video 2). Incision of the septum is continued till the tip of the hysteroscope can move freely from one ostium to the other (Supplemental video 3). The operative time was 12 minutes. There were no intra- or postoperative complications. Postoperative estrogen therapy was given for 2 months in the form of estradiol valerate 2 mg (tablet, Progynova, Zydus Cadila) 12 hourly orally for 25 days and medroxyprogesterone acetate 10 mg (tablet, Meprate, Serum Institute of India, Ltd) 12 hourly orally added in the last 5 days [9]. 3D transvaginal ultrasound was done on day 8 of menses. It showed a triangular uterine cavity with a very small fundal indentation of 0.37 cm. A second look hysteroscopy that was done on day 9 of menses showed an uterine cavity of good shape and size [10]. Few fundal adhesions were seen and they were incised using Ho:YAG laser. The patient conceived 5 months after the primary surgery and delivered by cesarean section at 38 weeks, giving birth to a healthy baby of 2860 grams. There were no complications during her pregnancy and delivery. A comparative study is essential to prove its advantages over other energy sources for this surgery. CONCLUSION: Hysteroscopic metroplasty using Ho:YAG laser for treatment of septate uterus is a simple, precise, safe, and effective procedure. VIDEO ABSTRACT.
Assuntos
Aborto Habitual , Lasers de Estado Sólido , Útero Septado , Gravidez , Feminino , Humanos , Adulto , Hólmio , Cesárea , Lasers de Estado Sólido/uso terapêutico , Útero/cirurgia , Útero/anormalidades , Histeroscopia/métodos , ComprimidosRESUMO
Vinclozolin (VCZ) has been identified as a broad-spectrum fungicide and an environmental endocrine disruptor. Also, the Hippo signaling pathway controls organ size by regulating cell proliferation and apoptosis, and moreover, overexpression of microRNA-132 (miR-132) and microRNA-195 (miR-195) inhibits cell proliferation and promotes apoptosis. So, in this study, the experimental mice were orally given 400 mg/kg/day VCZ (suspended in corn oil) at gestational day 12-18, while those of the control group were fed with corn oil of equal volume. Then unilateral ovaries and mid-uteri were isolated from 10 randomly-selected mice at the postnatal 1st week (7 days), 3rd week (20-21 days), and 7th week (48-49 days) respectively to observe gene levels, while 6 of the contralateral ovaries and uteri were subsequently examined for proteins respectively. Besides, 16 from both groups were determined with serum estradiol (E2) at week 7, of which 6 were randomized for histological observation. Here we found the levels of E2 reduced in VCZ-group at week 7, with fewer follicles and injured endometrium. Meanwhile, in VCZ mice of all ages, increased miR-132 and miR-195a, decreased G protein-coupled estrogen receptor (GPER), elevated phosphorylated large tumor suppressor (pLATS) and phosphorylated yes-associated protein (pYAP), and decreased yes-associated protein (YAP) were observed in their ovaries and uteri. These findings suggested ovarian and uterine dysplasia in the offspring induced by gestational VCZ-exposure were mainly attributed to higher miR-132 and miR-195a and accentuated Hippo-pathway.
Assuntos
Fungicidas Industriais , Via de Sinalização Hippo , MicroRNAs , Ovário , Efeitos Tardios da Exposição Pré-Natal , Útero , Animais , Feminino , Humanos , Camundongos , Gravidez , Óleo de Milho , MicroRNAs/genética , Ovário/anormalidades , Ovário/efeitos dos fármacos , Efeitos Tardios da Exposição Pré-Natal/induzido quimicamente , Proteínas/metabolismo , Útero/anormalidades , Útero/efeitos dos fármacos , Proteínas de Sinalização YAP , Fungicidas Industriais/toxicidadeRESUMO
RATIONALE: The incidence of uterine malformations is low (4%-7%). Currently, the National Comprehensive Cancer Network clinical practice guidelines in oncology recommend minimally invasive surgery for early endometrial cancer. Minimally invasive surgery for the treatment of uterine didelphys with endometrial cancer is rare due to the large size of the uterus. To date, only 2 such patients have been reported to have undergone laparoscopy. Whether such patients can be treated with minimally invasive surgery needs to be further explored. PATIENT CONCERNS: A 40-year-old woman with uterine didelphys was hospitalized for menorrhagia in the past 2âmonths. DIAGNOSIS: Endometrial adenocarcinoma was found in both the uterus and cervix using fractional dilation and curettage. INTERVENTIONS: The patient underwent laparoscopic surgery. Postoperative adjuvant radiotherapy and chemotherapy were administered. OUTCOMES: There was no sign of recurrence during routine follow-up. LESSONS: The use of a uterine manipulator to lift either side of the uterus could help to expose the narrow ipsilateral para-uterine field. It is difficult to remove the uterus entirely through the vagina, making it necessary to select appropriate cases wherein screening is performed to check if the vagina is loose, and the uterus is of appropriate size. Minimally invasive surgery may be feasible for suitable patients.
Assuntos
Neoplasias do Endométrio , Anormalidades Urogenitais , Neoplasias Uterinas , Adulto , Neoplasias do Endométrio/complicações , Neoplasias do Endométrio/patologia , Neoplasias do Endométrio/cirurgia , Feminino , Humanos , Anormalidades Urogenitais/complicações , Neoplasias Uterinas/patologia , Útero/anormalidades , Útero/patologiaRESUMO
Rats were treated orally with ayahuasca (AYA) on gestation days (GD) 6-20 at doses corresponding to one-(1X) to eight-fold (8X) the average dose taken by a human adult in a religious ritual, and the pregnancy outcome evaluated on GD21. Rats treated with 4X and 8X doses died during the treatment period (44 and 52%), and those that survived showed kidney injury. Rats surviving the 8X dose showed neuronal loss in hippocampal regions and in the raphe nuclei, and those from the 2X dose neuronal loss in CA1. Delayed intrauterine growth, induced embryo deaths and increased occurrence of foetal anomalies were observed at the 8X dose. At non-lethal doses, AYA enhanced embryolethality and the incidence of foetal soft-tissue and skeleton anomalies. This study suggested that AYA is developmentally toxic and that its daily use by pregnant women may pose risks for the conceptus.
Assuntos
Banisteriopsis , Bebidas/toxicidade , Alucinógenos/toxicidade , Preparações de Plantas/toxicidade , Teratogênicos/toxicidade , Anormalidades Induzidas por Medicamentos , Anormalidades Múltiplas/induzido quimicamente , Animais , Encéfalo/anormalidades , Encéfalo/efeitos dos fármacos , Encéfalo/patologia , Embrião de Mamíferos/efeitos dos fármacos , Feminino , Retardo do Crescimento Fetal , Rim/anormalidades , Rim/efeitos dos fármacos , Fígado/anormalidades , Fígado/efeitos dos fármacos , Masculino , Troca Materno-Fetal , Neurônios/efeitos dos fármacos , Gravidez , Ratos Wistar , Esqueleto/anormalidades , Esqueleto/efeitos dos fármacos , Testículo/anormalidades , Testículo/efeitos dos fármacos , Ureter/anormalidades , Ureter/efeitos dos fármacos , Útero/anormalidades , Útero/efeitos dos fármacosRESUMO
Congenital uterine anomalies are more common than previously recognized. While many women will have no symptoms or problems, some women with congenital uterine anomalies have increased risks of adverse outcomes during pregnancy. This article presents a case study of a woman with a congenital uterine anomaly leading to spontaneous rupture of her unscarred uterus remote from term. The most common types of congenital uterine anomalies and their associated reproductive risks are reviewed. Evaluation of congenital uterine anomalies and management alternatives are discussed.
Assuntos
Anormalidades Urogenitais/complicações , Ruptura Uterina/etiologia , Útero/anormalidades , Feminino , Humanos , Tocologia , Gravidez , Anormalidades Urogenitais/diagnóstico , Anormalidades Urogenitais/terapia , Ruptura Uterina/diagnóstico , Ruptura Uterina/terapia , Adulto JovemRESUMO
AIM: To review and evaluate the efficacy of kidney-tonifying traditional Chinese medicine prescriptions (KT-TCMP) in hypoplastic uterus (HU) treatment. METHODS: We searched MEDLINE, the Cochrane Library, CNKI (China National Knowledge Infrastructure), WANFANG and VIP databases until 14 December 2013 independently with two investigators. Randomized controlled trials (RCT) involving KT-TCMP as a combined or monotherapy in the treatment of HU were reviewed and analyzed. Meta-analysis was performed by Review Manager (version 5.2). RESULTS: Nine RCT of 1745 patients were eligible for this review and meta-analysis, of which eight RCT described the primary outcome of clinical efficacy and three RCT drew the secondary outcome of uterine size. Meta-analyzed 'recovery' clinical efficacy of KT-TCMP in seven RCT was conducted which considered diethylstilbestrol therapy alone as control, as well as three RCT that meta-analyzed the effect of KT-TCMP on uterine diameter enlargement. As a result, KT-TCMP therapy had a significantly improved difference in increasing 'recovery' clinical efficacy (risk ratio, 2.34; 95% confidence interval [CI], 1.90-2.89) and enlarging the uterine diameter (standardized mean difference, 1.62; 95% CI, 1.39-1.84). One study reported adverse reactions as an important outcome and found it was safe during KT-TCMP therapy. CONCLUSION: The therapy of applying KT-TCMP as a combined or monotherapy in the treatment of HU may be more efficacious. However, these RCT were of moderate methodological quality and small sample size; thus, the results should be confirmed with more rigorously controlled further studies.
Assuntos
Transtornos do Desenvolvimento Sexual/tratamento farmacológico , Medicamentos de Ervas Chinesas/uso terapêutico , Fitoterapia , Doenças Uterinas/tratamento farmacológico , Útero/efeitos dos fármacos , Transtornos do Desenvolvimento Sexual/patologia , Medicamentos de Ervas Chinesas/efeitos adversos , Feminino , Humanos , Tamanho do Órgão/efeitos dos fármacos , Fitoterapia/efeitos adversos , Ensaios Clínicos Controlados Aleatórios como Assunto , Doenças Uterinas/congênito , Doenças Uterinas/patologia , Útero/anormalidades , Útero/patologiaRESUMO
PURPOSE OF REVIEW: Mayer-Rokitansky-Küster-Hauser syndrome is undergoing new research outcomes involving genetics and management. RECENT FINDINGS: Recent literature supports a polygenic multifactorial genetic basis for the syndrome. Management is now predominantly by vaginal dilators and nonsurgical, but holistic. The future of uterine transplantation is discussed. SUMMARY: New developments open new possibilities for understanding the genetic basis of the disease, and research in this area will continue. Management in terms of fertility may have an added dimension if uterine transplantation and successful pregnancy outcome can be proven.
Assuntos
Transtornos 46, XX do Desenvolvimento Sexual/genética , Anormalidades Congênitas/cirurgia , Rim/cirurgia , Ductos Paramesonéfricos/anormalidades , Ductos Paramesonéfricos/cirurgia , Útero/transplante , Vagina/anormalidades , Vagina/cirurgia , Transtornos 46, XX do Desenvolvimento Sexual/diagnóstico , Transtornos 46, XX do Desenvolvimento Sexual/cirurgia , Anormalidades Congênitas/diagnóstico , Anormalidades Congênitas/genética , Dilatação , Feminino , Fertilidade/genética , Testes Genéticos , Proteínas de Homeodomínio/genética , Humanos , Rim/anormalidades , Gravidez , Comportamento Sexual , Proteína de Homoeobox de Baixa Estatura , Inquéritos e Questionários , Resultado do Tratamento , Útero/anormalidadesRESUMO
This was a case of Gishiri cut in a patient with Meyer-Rokitansky-Kuster-Hauser syndrome resulting in a vesico-vaginal fistula and urethral loss. This followed an attempt to enlarge and lengthen the vagina to enhance penile penetration. Few cases of MRKH syndrome presenting with complications after an attempt at treatment by traditional birth attendants have been reported. This report is particularly of essence as most urinary fistulae in Nigeria are obstetric fistulae following prolonged obstructed labour.
Assuntos
Anormalidades Múltiplas/diagnóstico , Útero/anormalidades , Vagina/anormalidades , Fístula Vesicovaginal/diagnóstico , Anormalidades Múltiplas/cirurgia , Adulto , Feminino , Humanos , Ductos Paramesonéfricos/anormalidades , Procedimentos de Cirurgia Plástica , Síndrome , Resultado do Tratamento , Útero/cirurgia , Vagina/cirurgia , Fístula Vesicovaginal/complicações , Fístula Vesicovaginal/cirurgiaRESUMO
BACKGROUND: Although uterine septum does not cause infertility, it may lead to recurrent abortion, preterm delivery, and premature rupture of membrane in over 25% of patients. The aim of this study was to evaluate feasibility and clinical value of hysteroscopic bipolar electric vaporization technique (Versapoint Bipolar Electrosurgical System) used in transcervical incision of septa (TCIS) in an outpatient setting. METHODS: Retrospectively, 447 cases of hysteroscopic TCIS were analyzed. Operative time, blood loss, consumption of uterus distension medium, and period of postoperative hospital stay were compared between outpatients and inpatients. Feasibility of outpatient TCIS using bipolar electric vaporization system under analgesia and without anesthesia was investigated. All hysteroscopic procedures were performed after review and approval by institutional ethical committee. Stata 8.0 software was used for statistical analysis, and t test and chi (2) test were used to evaluate association among numerical and categorical variables. p < 0.05 indicated statistically significant difference. RESULTS: The study included 121 inpatients (27.1%) and 326 outpatients (72.9%). Three hundred sixty-two cases (80.98%) were under only pethidine analgesia and 420 cases (93.96%) under local infiltration anaesthesia or analgesia. Of 447 cases of TCIS, 433 (96.87%) were accomplished under intravenous, local infiltration anaesthesia or pethidine analgesia. In all TCIS, 421 cases (94.18%) were carried out with mechanical microscissors and bipolar electric vaporization incision. No significant difference was identified between inpatients and outpatients in terms of operative time, blood loss, or consumption of uterus distension medium (p > 0.05). However, period of postoperative hospital stay was significantly shorter in outpatient TCIS than in inpatient TCIS by an average of 24 h or more (p < 0.01). CONCLUSIONS: Hysteroscopic bipolar electric vaporization TCIS could be carried out safely and efficaciously in an outpatient setting, by using smaller hysteroscope and bipolar electrodes.
Assuntos
Histeroscopia/métodos , Útero/anormalidades , Adulto , Procedimentos Cirúrgicos Ambulatórios/métodos , Procedimentos Cirúrgicos Ambulatórios/estatística & dados numéricos , Analgésicos , Anestesia Intravenosa , Anestesia Local , Colo do Útero , Eletrocirurgia , Estudos de Viabilidade , Feminino , Humanos , Meperidina , Pessoa de Meia-Idade , Complicações Pós-Operatórias/epidemiologia , Estudos Retrospectivos , Útero/cirurgiaRESUMO
Many cases of not life saving transplanted organs were described with the aim of improving quality of life. Uterus graft could be an alternative solution to adoption or surrogacy for women who have uterine factor infertility. Different animals' studies with mouse, sheep or monkey showed feasibility of the surgical technique with large vessels patch. One case of human uterine transplant has been reported but failed. Cold storage of the uterus in protective solution has been explored with mouse, sheep and human. Only pregnancy after uterus graft by syngenic mouse has been published. Results about pregnancy after allograft with sheep or monkey are necessary before pregnancy after human uterus graft becomes a reality.
Assuntos
Infertilidade Feminina/cirurgia , Útero/transplante , Animais , Criopreservação , Feminino , Humanos , Infertilidade Feminina/etiologia , Camundongos , Qualidade de Vida , Ovinos , Resultado do Tratamento , Útero/anormalidades , Útero/irrigação sanguíneaAssuntos
Dismenorreia , Adolescente , Anti-Inflamatórios não Esteroides/uso terapêutico , Anticoncepcionais Orais/administração & dosagem , Dismenorreia/epidemiologia , Dismenorreia/etiologia , Dismenorreia/patologia , Dismenorreia/fisiopatologia , Feminino , Humanos , Leiomioma/complicações , Estimulação Elétrica Nervosa Transcutânea , Neoplasias Uterinas/complicações , Útero/anormalidadesRESUMO
The developing fetus is uniquely sensitive to perturbation with estrogenic chemicals. The carcinogenic effect of prenatal exposure to diethylstilbestrol (DES) is the classic example. Because phytoestrogen use in nutritional and pharmaceutical applications for infants and children is increasing, we investigated the carcinogenic potential of genistein, a naturally occurring plant estrogen in soy, in an experimental animal model previously reported to result in a high incidence of uterine adenocarcinoma after neonatal DES exposure. Outbred female CD-1 mice were treated on days 1-5 with equivalent estrogenic doses of DES (0.001 mg/kg/day) or genistein (50 mg/kg/day). At 18 months, the incidence of uterine adenocarcinoma was 35% for genistein and 31% for DES. These data suggest that genistein is carcinogenic if exposure occurs during critical periods of differentiation. Thus, the use of soy-based infant formulas in the absence of medical necessity and the marketing of soy products designed to appeal to children should be closely examined.
Assuntos
Adenocarcinoma/induzido quimicamente , Genisteína/toxicidade , Isoflavonas , Neoplasias Uterinas/induzido quimicamente , Animais , Dietilestilbestrol/toxicidade , Estrogênios não Esteroides/toxicidade , Tubas Uterinas/anormalidades , Tubas Uterinas/efeitos dos fármacos , Feminino , Masculino , Camundongos , Fitoestrógenos , Preparações de Plantas , Gravidez , Útero/anormalidades , Útero/efeitos dos fármacosRESUMO
OBJECTIVE: To compare CO(2) and normal saline as distention media in office diagnostic hysteroscopy. METHODS: The outcome of more than 6000 office hysteroscopies was analyzed. We used carbon dioxide or saline as distension medium. Minor hysteroscopic techniques were performed when indicated. RESULTS: The major indication was abnormal uterine bleeding (45%). Satisfactory hysteroscopy was achieved in 92. 4% with CO(2) and in 98.3% with saline (P<0.05). Local anesthesia was used in 54 patients (1.5%) with CO(2) and in three patients (0. 1%) with saline (P<0.001). Four hundred and two women (16.3%) underwent hysteroscopic procedures under saline hysteroscopy. Endometrial polyps were removed in 281 patients, 75 IUDs were removed, 14 fibroids were extracted, uterine septa were excised in 11 cases and mild and moderate adhesions were transected in 21 patients. CONCLUSION: Saline office diagnostic hysteroscopy offers at least all the advantages of the CO(2) hysteroscopy, and gives the possibility to easily 'find and treat in situ' many of the lesions observed.
Assuntos
Procedimentos Cirúrgicos Ambulatórios , Procedimentos Cirúrgicos Ambulatórios/métodos , Dióxido de Carbono , Histeroscopia/métodos , Pneumoperitônio Artificial/métodos , Cloreto de Sódio , Hemorragia Uterina/diagnóstico , Hemorragia Uterina/cirurgia , Procedimentos Cirúrgicos Ambulatórios/instrumentação , Anestesia Local , Feminino , Humanos , Leiomioma/complicações , Seleção de Pacientes , Pneumoperitônio Artificial/instrumentação , Pólipos/complicações , Resultado do Tratamento , Hemorragia Uterina/etiologia , Neoplasias Uterinas/complicações , Útero/anormalidadesRESUMO
When menarche has failed to occur or menstrual cycles have stopped, the problem can be traced back to a functional or structural defect in the hypothalamus, pituitary, ovaries, or uterus. In most cases, the history is the principal source of diagnostic information. Necessary laboratory studies include one for the most common cause of amenorrhea: pregnancy.
Assuntos
Amenorreia/etiologia , Hiperprolactinemia/complicações , Neoplasias Hipofisárias/complicações , Prolactinoma/complicações , Útero/anormalidades , Adulto , Amenorreia/classificação , Amenorreia/terapia , Bromocriptina/uso terapêutico , Anticoncepcionais Orais/uso terapêutico , Feminino , Antagonistas de Hormônios/uso terapêutico , Humanos , Hipotálamo/efeitos dos fármacos , Imageamento por Ressonância Magnética , Testes de Gravidez , Prolactinoma/diagnósticoRESUMO
En el presente articulo revisamos la etiopatogenia y presentacion clinica de la endometriosis haciendo hincapie en las localizaciones atopicas, reforzando lo anterior hacemos la presentacion de 3 casos diagnosticados y tratados en el servicio de obstetricia y ginecologia del hospital San Gabriel en el periodo comprendido entre el primero de enero al 31 de julio de 1994, en pacientes de consulta externa cuyas manifestaciones clinicas estuvieron relacionadas con la via de obtencion del producto de la concepcion.
Assuntos
Humanos , Feminino , Adulto , Pessoa de Meia-Idade , Técnicas de Diagnóstico por Cirurgia , Técnicas de Diagnóstico por Cirurgia/instrumentação , Endometriose/cirurgia , Endometriose/complicações , Endometriose/diagnóstico , Endometriose/etiologia , Endometriose/patologia , Endometriose/terapia , Endométrio/anormalidades , Endométrio/cirurgia , Diagnóstico Clínico , Incidência , Neoplasias do Endométrio/cirurgia , Neoplasias do Endométrio/complicações , Neoplasias do Endométrio/diagnóstico , Útero/anormalidades , Útero/cirurgia , Útero/patologiaRESUMO
Comunicamos un caso del síndrome de Mayer-Rokitansky-Kuster-Hauser (SMRKH) en una niña de 13 años de edad. Presentaba atresia de vagina, agenesia renal derecha, escoliosis, cariotipo 46XX. Se utilizó la radiografía simple tóraco-abdominal urogenitoronograma, urografía, enema de bario y ecosonografía como método diagnósticos. La corrección quirúrgica hasta el momento ha sido satisfactoria. Se revisa literatura médica publicada sobre el síndrome y las posibles causas
Assuntos
Feminino , Adolescente , Ovário/anormalidades , Útero/anormalidades , Vagina/anormalidades , UrografiaRESUMO
Hysteroscopy performed on 126 infertile patients and on 73 fertile patients revealed a significant association between abnormal uterine cornual ostia and infertility (p less than 0.002). Ostial abnormalities included absence of cupping with uterine cavity distension, diminution of ostial diameter and complete ostial occlusion. High intrauterine pressures from dye perturbation can overcome the occluded ostial state giving a false impression of adequate tubal patency. These findings may explain some cases of apparently unexplained infertility and may bear on the success rates of procedures such as artificial insemination and gamete intrafallopian transfer.
Assuntos
Infertilidade Feminina/diagnóstico , Útero/anormalidades , Feminino , Humanos , HisteroscopiaRESUMO
An autosomal dominant syndrome is described in 26 members of six generations in a single family. Distal extremity malformations are characteristic and superficially resemble those of arthrogryposis, chondroectodermal dysplasia, Cornelia de Lange syndrome, Faconi's anemia or Holt-Oram syndrome. There is an absence of spinal deformity, and females of the disorder have duplication of the genital tract.
Assuntos
Anormalidades Múltiplas/genética , Deformidades Congênitas do Pé , Deformidades Congênitas da Mão , Útero/anormalidades , Feminino , Pé/diagnóstico por imagem , Mãos/diagnóstico por imagem , Humanos , Pessoa de Meia-Idade , Linhagem , Radiografia , SíndromeRESUMO
The overwhelming majority of girls presenting with primary amenorrhoea have aetiologies with their roots in disturbances of embryogenesis and/or the endocrinology of sexual differentiation. This review will deal with the fundamentals of embryology and endocrinology relevant to the subject and then discuss the findings in a group of one hundred and forty patients with primary amenorrhoea as they relate to these disturbances.