ABSTRACT
Complete androgen insensitivity syndrome (CAIS) is a rare disease that can be easily misdiagnosed. Before puberty, this condition is easily misdiagnosed as an inguinal hernia. This case report describes a 31-year-old phenotypically female patient with CAIS who was misdiagnosed twice previously with an inguinal hernia. Her karyotype analysis showed that she was 46, XY. She underwent a bilateral gonadectomy and long-term hormone replacement therapy. A Leydig cell tumour of the right testis was diagnosed postoperatively. This report also reviews the current understanding of the diagnosis and treatment of CAIS.
Subject(s)
Androgen-Insensitivity Syndrome , Hernia, Inguinal , Female , Humans , Male , Adult , Androgen-Insensitivity Syndrome/diagnosis , Androgen-Insensitivity Syndrome/genetics , Androgen-Insensitivity Syndrome/surgery , Hormone Replacement Therapy , Karyotype , KaryotypingABSTRACT
OBJECTIVE: To analyze the impact of hypertensive left ventricular hypertrophy (LVH) on cardiovascular events (CVD) in adult Beijing residents. METHODS: CVD risk factor survey was conducted in 7023 Beijing residents aged 25 - 64 by a stratified-random sample design from 1984 to 1993 in three years interval. CVD events were followed up and the association of the hypertensive LVH and risk of CVD and total death was analyzed by multivariable Cox Regression Model. All subjects were followed up to December 2004. RESULTS: There were 211 non hypertensive LVH patients in the cohort and were excluded from the study. (1) There were 2240 hypertensive patients among 6812 subjects on baseline. The total prevalence of LVH was 11.8% (16.1% in male and 7.5% in female). (2) Compared to the group with normal blood pressure and without left ventricular hypertrophy, subjects with hypertensive LVH had significantly higher risk for acute coronary, acute stroke, total CVD and total death rate. The relative risks (RR) were 4.92 (95% CI: 2.3, 10.7), 4.2 (95% CI: 2.6, 7.0), 4.1 (95% CI: 2.6, 6.3) and 3.3 (95% CI: 2.0, 5.3), respectively. (3) Compared to the group with hypertension and without LVH, the group with hypertensive LVH had also significantly higher risk for acute stroke, total CVD and total death rate. The RR were 1.8 (95% CI: 1.1, 2.8), 1.7 (95% CI: 1.2, 2.3) and 1.7 (95% CI: 1.1, 2.7), respectively. (4) The population attribute risks (PAR) of hypertensive LVH to the incidents of acute CHD, acute stroke, total CVD and total death were 13.0%, 11.0%, 10.4% and 7.9%, respectively. CONCLUSIONS: Hypertensive left ventricular hypertrophy was an independent risk factor for long term risk of cardiovascular events and death.
