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  1. Sani AM, Arif II, Arshad MM, Mungadi IA, Soh KG, Soh KL
    J Nurs Res, 2020 Feb;28(1):e67.
    PMID: 30855517 DOI: 10.1097/jnr.0000000000000313
    BACKGROUND: Disorders of sex development (DSD) affect the quality of life of people who live with this condition. In developing countries, diagnoses of DSD are associated with a delay in presentation until the patients developed ambiguous physical traits and features.

    PURPOSE: This study explores the menstrual experiences of people with DSD and sex reassignment in Nigeria.

    METHODS: A qualitative approach with a phenomenological study design was employed in this study to explore and describe the experiences of people with DSD at the Usmanu Danfodiyo University Teaching Hospital in Sokoto, Nigeria. The data were collected using face-to-face interviews, transcribed verbatim, and analyzed using NVivo software.

    RESULTS: The findings show that the participants experienced menstrual problems: men with menstruation and women with amenorrhea. The female participants generally described amenorrhea as a disappointment and linked menstruation with womanhood. Amenorrhea evinced both emotional and psychological effects. However, some of the female participants considered amenorrhea in a positive light and were happy with their lives without menstruation. The menstrual experiences of male participants included menarche, lower abdominal pain, regular monthly bleeding, and ovulation. The male participants described menstruation as a disaster in their lives and a source of anxiety, suicidal ideation, and depression. Menstruation negatively affected their psychosocial well-being.

    CONCLUSIONS: The menstrual experience of individuals with DSD negatively affects their quality of life. The women with DSD in this study showed a generally poor knowledge of menarche, menstruation, and puberty, indicating that their parents had ignored the initial symptoms of DSD. DSD were only recognized at puberty because of the development of ambiguous physical traits and of the onset of menstruation in men and the confirmation of amenorrhea in women.

    Matched MeSH terms: Disorders of Sex Development/epidemiology
  2. Elkarhat Z, Belkady B, Charoute H, Zarouf L, Razoki L, Aboulfaraj J, et al.
    Am J Med Genet A, 2019 08;179(8):1516-1524.
    PMID: 31207162 DOI: 10.1002/ajmg.a.61257
    The aim of the present study was to determine the frequency and nature of chromosomal abnormalities involved in patients with the clinical spectrum of ambiguous genitalia (AG), amenorrhea, and Turner phenotype, in order to compare them with those reported elsewhere. The study was conducted in the Cytogenetic Department of Pasteur Institute of Morocco, and it reports on the patients who were recruited between 1996 and 2016. Cytogenetic analysis was performed according to the standard method. Among 1,415 patients, chromosomal abnormalities were identified in 7.13% (48/673) of patients with AG, 17.39% (28/161) of patients with primary amenorrhea (PA), 4% (1/25) of patients with secondary amenorrhea, and 23.20% (129/556) of patients with Turner phenotype. However, Turner syndrome was diagnosed in 0.89% (6/673) of patients with AG, 10.56% (17/161) of patients with PA, and 19.78% (110/556) of patients with Turner phenotype. In addition, Klinefelter syndrome and mixed gonadal dysgenesis were confirmed in 2.97% and 1.93% of patients, respectively, with AG, while, chimerism, trisomy 8, and trisomy 13 were confirmed only in 0.15% each. Trisomy 21 was confirmed in patients with AG and Turner phenotype (0.15% and 0.36%, respectively). Moreover, 5.60% (9/161) of patients with PA have been diagnosed as having sex reversal. Thus, the frequency of chromosomal abnormalities observed in Moroccan patients with PA is comparable to that reported in Tunisia, Turkey, Iran, and Hong Kong. However, the frequency is significantly less than that identified in India, Malaysia, Italy, and Romania.
    Matched MeSH terms: Disorders of Sex Development/epidemiology
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