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PURPOSE: Girls and women with Down syndrome (DS) and their caregivers may have more difficulties in dealing with puberty, menstruation, and sexuality than those without DS. Our aim was to understand the concerns of these caregivers about gynecological aspects, including menstruation, contraception, and sexual practice. METHODS: We performed a cross-sectional study that included caregivers of females with DS aged 9 years or older and both in pre- and post-menarche. The caregivers answered a questionnaire about their concerns regarding puberty, menstruation, sexuality, and contraception methods. RESULTS: We enrolled 100 caregivers of females with DS. Caregivers' major concern was menstrual bleeding. Most caregivers (57%) would not prohibit romantic relationships, including sexual relationships. Of the care recipients, 78 had reached menarche and their most common complaints were pain and behavioral changes. Regarding sexual behavior, 2% had already had sexual intercourse. Contraception was used by 14 of the 78 (17.9%) post-menarche females with weight gain as the most common side effect (43%). CONCLUSIONS: In our sample, females with DS had sexual development comparable to those without the syndrome. As these females become increasingly independent, it is necessary to guide caregivers and primary care physicians, especially gynecologists, about the difficulties related to the menstrual period.

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Enhanced health care for patients with Down syndrome (DS) results in improved overall quality of life and longer life expectancy. The main gynecologic complaints of patients with DS and their caregivers relate to menstrual cycles, hygiene and reproductive issues. Certain aspects, such as age of menarche, menstrual cycles, internal genitalia, and hormone profile are similar to those observed in the general population. However, individuals with DS may have a higher incidence of other disorders related to menstruation, such as hypothyroidism, epilepsy and use of anticonvulsants. Contraceptive measures for individuals with DS can be used for both contraception and control of menstrual symptoms. The physician must be to make an individualized recommendation aimed at offering the most efficient and least invasive method with the fewest side effects. Among medical options are oral contraceptives, quarterly injectable medroxyprogesterone acetate, oral progesterone, a levonorgestrel-releasing intrauterine system, transdermal patch and vaginal rings. Surgical methods, including hysterectomy, endometrial ablation, or tubal ligation, are rarely considered because they raise ethical and legal questions. This article reviews the literature and basic guidelines to assist physicians who attend adolescent girls and women with DS to provide guidance on the appropriate management of the main gynecologic complaints of this population.

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Objetivo: Pacientes com síndrome de Down (SD) apresentam maior prevalência de doenças autoimunes (DAI). No caso apresentado, chama atenção a elevada concomitância de DAI, a apresentação clínica das mesmas e a influência na saúde mental do paciente. Descrição do caso: Relatamos o caso de paciente masculino, 25 anos, cariótipo 47,XY+21, acompanhado pelo ambulatório de SD do HC/UFPR desde o nascimento, que até o presente momento apresentou cinco DAI associadas: vitiligo generalizado, alopecia areata, doença de Hashimoto, doença celíaca e psoríase. Nesse paciente, chama atenção as cinco doenças autoimunes concomitantes e a gravidade das doenças de pele. Foi realizada a fenotipagem da sua população linfocitária, obtendose numericamente: contagem normal de linfócitos T (CD3+) e de linfócitos T (CD8+); e contagem diminuída de linfócitos T (CD4+), células natural killer e linfócitos B. Foi realizada a sua tipagem HLA e observou-se a presença de alelos HLA-DQ2 e HLA-DR3 que, de acordo com a literatura, estão associados com o aparecimento de DAI. Aos 14 anos o paciente começou a apresentar sintomas da síndrome do pânico e episódios de transtorno obsessivo compulsivo. Comentários: A associação de fatores imunológicos e genéticos faz com que pacientes com SD possam ter concomitância de DAI. Profissionais de saúde que atendem pacientes Down devem estar atentos para tais doenças.

Objective: Patients with Down syndrome (DS) show a higher prevalence of autoimmune diseases (AIDs). In the case here described, the high concomitance of AIDs stands out, as does their clinical presentation and influence on the patient's mental health. Case description: We report the case of a male patient aged 25 years, karyotype 47,XY+21, followed from birth at the DS outpatient clinic at Hospital de Clínicas ­ Universidade Federal do Paraná. Up to the present moment, the patient presented five associated AIDs: generalized vitiligo, alopecia areata, Hashimoto's disease, celiac disease and psoriasis. In this patient, attention is drawn to the five concomitant AIDs and the severity of skin diseases. Phenotypic analysis of lymphocyte populations was obtained numerically, resulting in normal counts for T (CD3+) and T (CD8+) lymphocytes, and decreased counts for T lymphocytes (CD4+), natural killer cells and B lymphocytes. HLA typing was performed and the presence of HLA-DQ2 and HLA-DR3 alleles was observed ­according to the literature, these alleles are associated with the development of AIDs. At 14 years of age, the patient started to present symptoms of panic disorder and episodes of obsessive-compulsive disorder. Comments: The association of immunological and genetic factors leads patients with DS to have concomitant AIDs. Healthcare professionals who treat patients with DS should be aware of these diseases.

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