ABSTRACT
Abstract Objective: To analyze aspects of sexual life and fertility desire among 46, XY DSD people, including those who changed their gender. Methods: It is a cross-sectional study including 127 adults (> 16 years of age) with 46, XY DSD (83 females; 44 males) from a Single Brazilian Tertiary-Care Medical Center. Results: Sexual fantasies and masturbation were more frequent in 46, XY DSD males, whereas orgasm and sexual life satisfaction were similar in both genders. More 46, XY DSD men than women had a long-term romantic relationship. 46, XY DSD women with prenatal androgen exposure reported more fear of being romantically rejected. External genitalia appearance at birth did not impact the sexuality of 46, XY DSD women after surgical genital treatment had been completed. Overall, the sexual life was similar between 46, XY men assigned as males and those who changed to the male gender. Regarding sexual orientation, most self-reported as heterosexual (91% and 92% of women and men, respectively). The desire for fertility had a similar prevalence in both genders, but more women than men considered infertility a barrier to a long-term romantic relationship. Twelve individuals (7 males) had children; 10 out of 12 have adopted children. Conclusion: Fertility desire was shared among 46, XY DSD people, regardless of gender. Prenatal androgen exposure reduced the desire for motherhood in 46, XY women. 46, XY DSD people who changed from female to male gender presented similar sexual parameters as those assigned as males. Among females, virilized genitalia at birth did not affect sexuality once the surgical treatment is completed.
ABSTRACT
ABSTRACT Androgenic insensitivity syndrome is the most common cause of disorders of sexual differentiation in 46,XY individuals. It results from alterations in the androgen receptor gene, leading to a frame of hormonal resistance, which may present clinically under 3 phenotypes: complete (CAIS), partial (PAIS) or mild (MAIS). The androgen receptor gene has 8 exons and 3 domains, and allelic variants in this gene occur in all domains and exons, regardless of phenotype, providing a poor genotype - phenotype correlation in this syndrome. Typically, laboratory diagnosis is made through elevated levels of LH and testosterone, with little or no virilization. Treatment depends on the phenotype and social sex of the individual. Open issues in the management of androgen insensitivity syndromes includes decisions on sex assignment, timing of gonadectomy, fertility, physcological outcomes and genetic counseling.
Subject(s)
Humans , Male , Female , Androgen-Insensitivity Syndrome/genetics , Androgen-Insensitivity Syndrome/therapy , Phenotype , Androgen-Insensitivity Syndrome/physiopathology , Hormone Replacement TherapyABSTRACT
A miocardiopatia periparto constitui entidade clínica rara, caracterizada por dilatação cardíaca e manifestações de insuficiência cardíaca grave, capaz de evoluir de forma fatal. Ocorre nos meses finais da gestação ou precocemente no puerpério. Sua etiologia e epidemiologia ainda são pouco conhecidas. Há grande discrepância nos prognósticos observados em relatos de caso, variando desde recuperação completa da função ventricular até fatalidade. Neste artigo é relatada a apresentação da doença de forma típica. O objetivo é enfatizar sua importância para que seja instituída precocemente sua terapêutica, evitando assim sua progressão para formas graves.
Peripartum cardiomyopathy (PPCM) is a rare clinical condition characterized by cardiac dilation and signs of severe heart failure and can be fatal. Its main characteristic is to affect women in the final months of pregnancy or early puerperium. Although the high morbidity and mortality, its etiology and epidemiology are poorly known. However, the outcome reports differ widely from complete recovery to death. The article reports a case to illustrate a typical manifestation of the disease. Our objective is to emphasize the importance of the theme not only to cardiologists but also to obstetricians, as the early therapy is the most important way to prevent the progression to severe conditions. Therefore the diagnosis of PPCM requires a lot of care and attention, and preventive counseling after PPCM is important due the increased risk for recurrence in a subsequent pregnancy.