Summary
Revista Brasileira de Ginecologia e Obstetrícia. 2012;34(3):133-138
DOI 10.1590/S0100-72032012000300008
The atypical and more severe form of Mayer-Rokitansky-Kuster-Hauser syndrome (MRKH) or MRKH type II is also known as MURCS association, an acronym meaning aplasia/hypoplasia of Müllerian ducts (MU), congenital renal dysplasia (R) and cervico-thoracic dysplasia (CS). It affects female patients with normal karyotype and ovarian function, evolving to primary amenorrhea. It has an incidence of 1:50,000, but it is underestimated due to late diagnosis and undefined etiology. We describe the cases of a child and an adolescent in order to predict the diagnosis even in childhood, before the onset of amenorrhea. Patients had in common renal malformation, agenesis or hypoplasia of Müllerian derivatives and vertebral anomalies, establishing the diagnosis of MURCS. The relevance of this paper is to show the importance of further investigation when some of pathologic signs are present, researching correlated abnormalities in order to establish an early diagnosis and consequently to provide guidance to the patients and their families about the best way to conduct the case, including genetic counseling.
Summary
Revista Brasileira de Ginecologia e Obstetrícia. 2011;33(12):421-425
DOI 10.1590/S0100-72032011001200008
Placenta vascular lesions are a group of distinct yet related entities that include chorangiomas and diffuse multifocal chorangiomatosis. Chorangioma is an expansive nodular lesion with an incidence of about 1%. Diffuse multifocal chorangiomatosis is rare (0.2%) and mostly seen in placentas before the 32nd gestational week. The authors present a case of a monochorionic/biamniotic twin pregnancy, in which, at the 26th gestational week, one fetus developed intrauterine growth restriction (IUGR), hydrops, and anemia associated with a tumor of the placenta with increased vascularization in the Doppler study. Pathological examination of the placenta diagnosed diffuse multifocal chorangiomatosis. This rare case report of diffuse multifocal chorangiomatosis with prenatal manifestations resembling those of a chorangioma proves that prenatal ultrasound detection of a placenta tumor, with increased vascularization at Doppler study, must raise other diagnostic possibilities beside chorangioma.
Summary
Revista Brasileira de Ginecologia e Obstetrícia. 2011;33(8):214-220
DOI 10.1590/S0100-72032011000800008
ABSTRACT Hyperandrogenic syndromes include diseases that manifest through an increased biological activity of androgens and that can originate from neoplastic or functional diseases. Androgen-secreting ovarian tumors represent about 1% of ovarian neoplasias. Steroid cell tumors are among the more rare types which account for less than 0.1% of all ovarian tumors. They are usually benign, of small dimensions and unilateral. We report here a rare case of a unilateral steroid cell tumor. A 60-year-old woman was seen after four months of evolution of hirsutism, clitoris hypertrophy and elevation of serum estradiol levels. Her total testosterone and 17-OH-progesterone levels were also increased.
Summary
Revista Brasileira de Ginecologia e Obstetrícia. 2011;33(4):196-204
DOI 10.1590/S0100-72032011000400008
The Crohn's disease, a form of inflammatory bowel disease, is frequent in women of childbearing age. Its management requires greater attention during pregnancy. We report a case of refractory Crohn's disease in a pregnant patient that evolued to ileocolectomy at puerperium. The literature regarding pregnant patients with Crohn's disease was reviewed, including counseling of patients and investigation of active disease, and the existing data was summarized on the safety of medications used to treat Crohn's disease in pregnancy and breastfeeding.
Summary
Revista Brasileira de Ginecologia e Obstetrícia. 2011;33(2):99-103
DOI 10.1590/S0100-72032011000200008
Dunnigan-type familial partial lipodystrophy (FPLD) is an autosomal dominant disease that results from heterozygous missense mutations in LMNA, the gene that encodes nuclear lamin A/C. FPLD is characterized by a progressive disappearance of subcutaneous adipose tissue in the limbs, gluteal region, abdomen and trunk, beginning at the time of or after puberty, and excessive amount of fat in the face, chin, labia majora, and intra-abdominal region, leading to a Cushingoid appearance and increased muscularity phenotype. Affected women are particularly predisposed to insulin resistance and its complications, including features of polycystic ovary syndrome. To emphasize the importance of an early FPLD diagnosis, which is necessary to prevent serious metabolic disturbances, we report a woman diagnosed at about 50 years of age. Increased muscularity and significant labia majora fat deposit made the diagnosis possible by gynecologists.
Summary
Revista Brasileira de Ginecologia e Obstetrícia. 2011;33(1):43-48
DOI 10.1590/S0100-72032011000100007
The treatment options for pregnant patients with invasive cervical cancer (ICC) depend on gestational age, clinical stage and the patient's wishes. Some authors have reported cases of neoadjuvant chemotherapy followed by radical surgery in these patients. The aim of this paper was to revisit this subject and to add a new case and review the literature. We report the case of a 30 year-old woman in the 24th week of gestation. She was diagnosed with ICC (squamous cell carcinoma grade 2), stage IIB (International Federation of Gynecology and Obstetrics - FIGO). Nulliparous, the patient refused to interrupt the pregnancy. After meticulous counseling, the patient accepted treatment with neoadjuvant chemotherapy (cisplatin 75 mg/m² and vincristine 1 mg/m²) and subsequent evaluation of radical surgery concomitant to a cesarean section. Four complete cycles of chemotherapy were administered without delays or significant adverse effects. A few days before the date scheduled for surgery, the patient was admitted in advanced labor (37th week of gestation). Due to tumor clinical response, the obstetric team decided to monitor the labor, and the patient gave birth to a male newborn (2,450 g) uneventfully. Radical surgery was performed three days after birth, and histopathology analysis revealed carcinoma confined to the cervix without lymphatic involvement. Mother and son are in good general condition 12 months after delivery. Cisplatin-based chemotherapy during the second or third trimester of pregnancy appears to be a safe option for patients who do not wish to interrupt a pregnancy while awaiting fetal maturity. However, additional studies are needed to confirm the prognosis and assure the safety of newborns and patients.