RESUMOObjetivo: a síndrome de Turner afeta aproximadamente 1:2.500 meninas nascidas vivas e decorre da ausência completa ou parcial do segundo cromossomo X. Embora o hipogonadismo e a infertilidade sejam os achados mais frequentes, 2-5 % das mulheres podem engravidar naturalmente. O objetivo deste trabalho é relatar o desfecho de uma gravidez espontânea em portadora de síndrome de Turner e apresentar uma revisão sobre o manejo dessa associação incomum. Relato do caso: paciente com síndrome de Turner diagnosticada aos 8 anos, cariótipo 45,X(4%)/46,XX(96%), apresentou desenvolvimento puberal espontâneo e menarca placentomegalia e polidramnia. A gestação evoluiu para trabalho de parto prematuro, com óbito do recém-nascido após 3 horas de vida. A paciente desenvolveu sintomas de depressão pós-parto, sendo encaminhada para acompanhamento psicológico. Conclusão: a gestação espontânea em uma mulher com síndrome de Turner é um evento raro. Há aumento de risco de malformações fetais, abortos espontâneos e natimortos, uma frequência elevada de complicações maternas e alta taxa de mortalidade. Complicações maternas mais comuns são diabetes gestacional, hipotireoidismo, hipertensão, pré-eclâmpsia, eclâmpsia e risco de dissecção/ ruptura da aorta, sendo fundamental acompanhamento multidisciplinar pré-concepcional e pré-natal.Palavras-chave: Síndrome de Turner. Gravidez de alto risco. Complicações na gravidez. ABSTRACTObjectives: Turner syndrome affects approximately one in 2500 live-born females and results from the complete or partial absence of the second sex chromosome. Although hypogonadism and infertility are the most frequent features, 2-5% may present spontaneous pregnancy. The purpose of this paper is to report the outcome of a spontaneous pregnancy in a patient with Turner syndrome and to review management of this unusual association. Case report: the patient diagnosed with Turner syndrome at 8 years old, with 45,X(4%)/46,XX(96%) karyotype, had spontaneous pubertal development and menarche at 15 years old. Spontaneous pregnancy occurred at age 28 and at the 32nd week of gestation ultrasound evaluation revealed hydrops fetalis, placentomegaly and polyhydramnios. The patient developed complications, including preterm birth and newborn death after three hours. Later she presented with postpartum depression. Conclusion: spontaneous pregnancy in woman with Turner syndrome is a rare event. There is an increased risk of chromosomal abnormalities, miscarriages and stillbirths, as well as an increased frequency of complications during pregnancy and higher mortality. The most common complications are gestational diabetes, hypothyroidism, hypertension, preeclampsia, eclampsia and increased risk of aortic dissection/rupture. These life-threatening conditions warrant multidisciplinary counseling prior to conception and during the prenatal period.
IntroductionHypoparathyroidism (HP) is a rare endocrine disease and there are little data available on the risk of fragility fractures in these patients. PTH deficiency results in a positive bone balance with higher bone mass in all skeletal sites. However, whether these structural and dynamic skeletal changes have a negative impact on the fracture risk, it is not known.MethodsAiming to investigate the risk of insufficiency vertebral fractures in HP, defined using morphometric criteria, a consecutive sampling of 44 women with chronic postsurgical HP was compared to a control group of 44 adult healthy women, matched by age with patients. Vertebral fractures were analyzed by the semiquantitative Genant’s method followed by quantitative vertebral morphometry.ResultsMorphometric vertebral fractures were identified in 5/44 (11.4%) patients and in 3/44 (6.8%) controls (p=0.731). Most fractures were classified as Genant II and III grades in HP patients, whereas most were Genant I in controls. A logistic regression multivariate analysis was conducted in which age, BMI and parathyroid status were the independent variables, and morphometric vertebral fracture was the dependent variable, but none of these factors was a significant predictor of fracture in this population (OR 1.01, 95% CI 0.96-1.07, p=0.634 for age; OR 2.24, 95%CI 0.47-10.50, p=0.306 for the presence/absence of HP and OR 0.92, 95% CI 0.76-1.10, p=0.369 for BMI).ConclusionThe results of this study cannot ensure a higher risk of fragility vertebral fractures in postsurgical HP patients. Instead, we only observed higher Genant grade classification of the deformed vertebrae in our sample.
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