Mixed gonadal dysgenesis is characterized by abnormal genital appearance and chromosomal mosaicism. A wide spectrum of clinical manifestations can occur, ranging from females (with or without Turner syndrome) to phenotypically normal males with some degree of genital ambiguity. In this context, uncommon mosaic karyotypes are associated with distinctive phenotypic characteristics. Here, we present the case of an 18-year-old girl with primary amenorrhea, delayed puberty, and a rare mosaic karyotype pattern. Clinical data were collected, and karyotyping was performed on peripheral blood samples. Polymerase chain reaction amplification for the sex-determining region Y protein (SRY) gene was also conducted. The patient presented with delayed puberty and primary amenorrhea. Her hormonal profile was consistent with hypergonadotropic hypogonadism. Pelvic magnetic resonance imaging revealed a small uterus. Echocardiography identified the presence of a bicuspid aortic valve. Karyotyping demonstrated a 46,XY/45,X/46,X,r(Y) pattern, indicating mosaicism for monosomy X and two cell lines: 45,X and 46,X,r(Y). The SRY gene was detected. Gonadal pathological investigation confirmed streak gonads consistent with gonadal dysgenesis and evidence of gonadoblastoma. Complicated cases with mosaic chromosomal patterns can exhibit a wide range of phenotypic features, from apparently normal males with variable external genitalia to females with or without characteristics of Turner syndrome. These phenotypic discrepancies are not directly related to the number of mosaic cells or the specific location of Y chromosome breakage. Therefore, in cases of primary amenorrhea with genotype-phenotype discrepancies, a multidisciplinary approach is essential to guide appropriate sex determination and management.

OBJECTIVES: Hypertension (HTN) is an important risk factor for cardiovascular disease. Considering the importance of this disease for public health, this study was designed in order to determine the prevalence, awareness, treatment, control, and risk factors of HTN in the Iranian adult population.METHODS: This cross-sectional study was conducted among 2,107 residents of Isfahan, Iran. Samples were selected through multi-stage random cluster sampling in 2015-2016. The outcome variable was HTN, determined by measuring blood pressure in the right arm via a digital arm blood pressure monitor. Awareness, treatment, and control of HTN were assessed by a validated and reliable researcher-developed questionnaire. Other demographic and clinical variables were assessed via a demographic questionnaire.RESULTS: The overall prevalence of HTN was 17.3% (18.9 and 15.5% in men and women, respectively). The prevalence of HTN increased in both genders with age. The prevalence of awareness of HTN among people with HTN was 69.2%, of whom 92.4 and 59.9% were taking medication for HTN and had controlled HTN, respectively. Logistic regression identified age, body mass index, having diabetes and hyperlipidemia, and a positive family history of HTN as determinants of awareness of HTN.CONCLUSIONS: The results showed that HTN was highly prevalent in the community, especially in men and in middle-aged and older adults. Approximately 30.8% of patients were unaware of their disease, and there was less awareness among younger adults. Despite the high frequency of taking medication to treat HTN, it was uncontrolled in more than 40.1% of patients. Health policy-makers should therefore consider appropriate preventive and therapeutic strategies for these high-risk groups.
Adult ; Arm ; Blood Pressure ; Blood Pressure Monitors ; Body Mass Index ; Cardiovascular Diseases ; Chronic Disease ; Cross-Sectional Studies ; Epidemiology ; Female ; Humans ; Hyperlipidemias ; Hypertension ; Iran ; Logistic Models ; Male ; Prevalence ; Public Health ; Risk Factors

OBJECTIVES: Hypertension (HTN) is an important risk factor for cardiovascular disease. Considering the importance of this disease for public health, this study was designed in order to determine the prevalence, awareness, treatment, control, and risk factors of HTN in the Iranian adult population. METHODS: This cross-sectional study was conducted among 2,107 residents of Isfahan, Iran. Samples were selected through multi-stage random cluster sampling in 2015-2016. The outcome variable was HTN, determined by measuring blood pressure in the right arm via a digital arm blood pressure monitor. Awareness, treatment, and control of HTN were assessed by a validated and reliable researcher-developed questionnaire. Other demographic and clinical variables were assessed via a demographic questionnaire. RESULTS: The overall prevalence of HTN was 17.3% (18.9 and 15.5% in men and women, respectively). The prevalence of HTN increased in both genders with age. The prevalence of awareness of HTN among people with HTN was 69.2%, of whom 92.4 and 59.9% were taking medication for HTN and had controlled HTN, respectively. Logistic regression identified age, body mass index, having diabetes and hyperlipidemia, and a positive family history of HTN as determinants of awareness of HTN. CONCLUSIONS: The results showed that HTN was highly prevalent in the community, especially in men and in middle-aged and older adults. Approximately 30.8% of patients were unaware of their disease, and there was less awareness among younger adults. Despite the high frequency of taking medication to treat HTN, it was uncontrolled in more than 40.1% of patients. Health policy-makers should therefore consider appropriate preventive and therapeutic strategies for these high-risk groups.
Adult* ; Arm ; Blood Pressure ; Blood Pressure Monitors ; Body Mass Index ; Cardiovascular Diseases ; Chronic Disease ; Cross-Sectional Studies* ; Epidemiology ; Female ; Humans ; Hyperlipidemias ; Hypertension* ; Iran* ; Logistic Models ; Male ; Prevalence* ; Public Health ; Risk Factors*

OBJECTIVES: Hypertension (HTN) is an important risk factor for cardiovascular disease. Considering the importance of this disease for public health, this study was designed in order to determine the prevalence, awareness, treatment, control, and risk factors of HTN in the Iranian adult population. METHODS: This cross-sectional study was conducted among 2,107 residents of Isfahan, Iran. Samples were selected through multi-stage random cluster sampling in 2015-2016. The outcome variable was HTN, determined by measuring blood pressure in the right arm via a digital arm blood pressure monitor. Awareness, treatment, and control of HTN were assessed by a validated and reliable researcher-developed questionnaire. Other demographic and clinical variables were assessed via a demographic questionnaire. RESULTS: The overall prevalence of HTN was 17.3% (18.9 and 15.5% in men and women, respectively). The prevalence of HTN increased in both genders with age. The prevalence of awareness of HTN among people with HTN was 69.2%, of whom 92.4 and 59.9% were taking medication for HTN and had controlled HTN, respectively. Logistic regression identified age, body mass index, having diabetes and hyperlipidemia, and a positive family history of HTN as determinants of awareness of HTN. CONCLUSIONS The results showed that HTN was highly prevalent in the community, especially in men and in middle-aged and older adults. Approximately 30.8% of patients were unaware of their disease, and there was less awareness among younger adults. Despite the high frequency of taking medication to treat HTN, it was uncontrolled in more than 40.1% of patients. Health policy-makers should therefore consider appropriate preventive and therapeutic strategies for these high-risk groups.