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1.
JNMA J Nepal Med Assoc ; 61(261): 482-484, 2023 May 01.
Artigo em Inglês | MEDLINE | ID: mdl-37203885

RESUMO

Turners' syndrome, although common, is a complex syndrome that requires a multidisciplinary team to manage it. If undiagnosed prenatally or in childhood, Turners' syndrome females often present later to gynaecologists with premature ovarian insufficiency or infertility as their primary presenting complaint. Timely diagnosis and management are key to improving health outcomes in women with Turners' syndrome, as it is associated with multiple comorbidities which left untreated will result in excess morbidity and mortality. We hereby present a case of a 20-year-old female diagnosed to have Turner's syndrome with mosaicism of the X chromosome to highlight the wide array of clinical presentations it can have. Keywords: case reports; infertility; sex chromosome aberrations; Turner syndrome.


Assuntos
Infertilidade , Síndrome de Turner , Feminino , Humanos , Adulto Jovem , Adulto , Síndrome de Turner/diagnóstico , Síndrome de Turner/genética , Síndrome de Turner/complicações , Mosaicismo , Cromossomo X
2.
JNMA J Nepal Med Assoc ; 61(259): 283-286, 2023 Mar 01.
Artigo em Inglês | MEDLINE | ID: mdl-37203938

RESUMO

Herlyn-Werner-Wunderlich syndrome is a rare Mullerian and mesonephric ductal anomaly characterized by a triad of didelphys uterus, obstructed hemivagina, and ipsilateral renal agenesis complex. This entity is also known as obstructed hemivagina and ipsilateral renal anomaly. We present a case of a 24-year-old nulliparous female with Herlyn-Werner-Wunderlich who presented with dysmenorrhea and intermenstrual bleeding. The diagnosis was initially made through ultrasound and confirmed on magnetic resonance imaging. The nonspecific nature of symptoms and variability in presentation depending on the classification and type of Herlyn-Werner-Wunderlich syndrome often leads to misdiagnosis or a delay in diagnosis. Therefore, a high index of suspicion is required. Keywords: case reports; mesonephric ducts; mullerian ducts.


Assuntos
Anormalidades Múltiplas , Nefropatias , Feminino , Humanos , Adulto Jovem , Adulto , Vagina/anormalidades , Rim/diagnóstico por imagem , Rim/anormalidades , Útero/diagnóstico por imagem , Útero/anormalidades , Anormalidades Múltiplas/diagnóstico
3.
JNMA J Nepal Med Assoc ; 60(256): 1056-1058, 2022 Dec 01.
Artigo em Inglês | MEDLINE | ID: mdl-36705118

RESUMO

Twin-twin transfusion syndrome occurs in multiple gestations and involves a chronic flow of blood from one twin to another twin and is a rare entity. We present a case of 32-years-old primigravida with a twin pregnancy who presented with increasing abdominal girth inappropriate with her gestational age at 21 weeks of her pregnancy. Ultrasound findings were suggestive of twin-twin transfusion syndrome. The patient was provided with treatment options but due to polyhydramnios and short cervix, the patient went into spontaneous labour the same day with a poor pregnancy outcome. Twin-twin transfusion syndrome leads to a high rate of perinatal morbidity due to its poorly understood aetiology and difficulty in diagnosing and treatment. Early diagnosis during antenatal ultrasound is important in reducing morbidity and mortality rates. Keywords: case reports; fetoscopy; oligohydramnios; polyhydramnios; twins.


Assuntos
Transfusão Feto-Fetal , Oligo-Hidrâmnio , Poli-Hidrâmnios , Gravidez , Feminino , Humanos , Lactente , Adulto , Transfusão Feto-Fetal/diagnóstico por imagem , Transfusão Feto-Fetal/terapia , Poli-Hidrâmnios/diagnóstico por imagem , Poli-Hidrâmnios/etiologia , Ultrassonografia Pré-Natal , Resultado da Gravidez , Oligo-Hidrâmnio/diagnóstico por imagem , Oligo-Hidrâmnio/terapia , Idade Gestacional
4.
JNMA J Nepal Med Assoc ; 58(231): 875-888, 2020 Nov 22.
Artigo em Inglês | MEDLINE | ID: mdl-34506401

RESUMO

INTRODUCTION: Polycystic ovarian syndrome is the most common endocrinological disorder in women of reproductive age and has a considerable metabolic, reproductive, and cardiovascular consequences. This study was designed to provide an overview of the presentation of he clinical profile and hormonal presentation of the patients with polycystic ovarian syndrome attending a tertiary care hospital. METHODS: A descriptive cross-sectional study was conducted between September 14, 2019 to October 16, 2019 on patients presenting to a tertiary care hospital, after obtaining ethical clearance from Institutional Review Committee (Dated 03/09/2019) and informed consent from the patient or patient relatives. Data entry and analysis were done in Microsoft Excel 10. The data was statistically analysed using Statistical Package for the Social Sciences (SPSS) version 20.0. RESULTS: The study included 100 PCOS patients. The mean age of the patients was 24.9±4.52 years and the most common group was 26-34 years. The most common presenting symptom was menstrual irregularity which was seen in 86 (86%) of the patients, followed by weight gain in 55 (55%) of the patients. Thirty percent (30 in number) of the patients were overweight, while eleven (11%) of the patients had grade I obesity. LH/FSH ratio was more than or equal to 2 in eighty-three percent 83 (83%) of the patients. CONCLUSIONS: Polycystic ovarian syndrome has varying clinical manifestations, most commonly affecting the young women of reproductive age group. The commonest presenting complaint in the current study was menstrual abnormality. Majority of the patients had deranged hormonal profile which can lead to an increased risk of cardiovascular disease and type 2 DM. Thus, awareness regarding PCOS is important for early diagnosis and to prevent its sequalae to various complications.


Assuntos
Síndrome do Ovário Policístico , Adulto , Estudos Transversais , Feminino , Humanos , Masculino , Distúrbios Menstruais/epidemiologia , Distúrbios Menstruais/etiologia , Síndrome do Ovário Policístico/diagnóstico , Síndrome do Ovário Policístico/epidemiologia , Centros de Atenção Terciária , Adulto Jovem
5.
JNMA J Nepal Med Assoc ; 58(231): 927-929, 2020 Nov 22.
Artigo em Inglês | MEDLINE | ID: mdl-34506403

RESUMO

A 49-year-old, perimenopausal nulliparous woman with lower abdominal pain and abnormal uterine bleeding. Clinical and radiological findings suggested a right adnexal tumor.  CA-125 level was moderately elevated. Total abdominal hysterectomy with bilateral salpingo-oophorectomy was done. Peroperative findings revealed a soft to friable growth arising from right fallopian tube with no involvement of ovaries. Histopathologic examination confirmed it to be a high grade serous carcinoma, FIGO stage IA. The histomorphology resembled high grade serous carcinoma of ovary, however ovaries on both sides appeared unremarkable. Surgery was uneventful and the patient was discharged after seven days of hospital stay. She did not receive postoperative chemotherapy or radiotherapy and is under follow-up. The case is reported for its occurrence in an uncommon anatomic site and preoperative dilemma with relevant review of literature.


Assuntos
Carcinoma , Neoplasias das Tubas Uterinas , Neoplasias das Tubas Uterinas/diagnóstico , Neoplasias das Tubas Uterinas/cirurgia , Tubas Uterinas/cirurgia , Feminino , Humanos , Histerectomia , Pessoa de Meia-Idade , Salpingo-Ooforectomia
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