46,XY disorder of sex development in a sudanese patient caused by a novel mutation in the HSD17B3 gene.

In this study, we present a Sudanese 46,XY patient raised as a female and diagnosed at the age of 20 years with having 17ß-hydroxysteroid dehydrogenase type 3 (17ß-HSD3) deficiency. She presented with primary amenorrhea, undeveloped breasts and a male pattern of secondary sexual characteristics. Examination of her external genitalia showed type IV genital circumcision. Steroid measurements both in urine and serum pointed to 17ß-HSD3 deficiency. A novel homozygous splice-site mutation [c.524 + 2T>A] was detected in intron 7 of the HSD17B3 gene. In this patient, steroid concentration clearly supported both the clinical diagnosis of 17ß-HSD3 deficiency and the functional relevance of the mutation. Interestingly, despite of the type IV genital circumcision, the patient expressed her interest in reassigning her sex from female to male.

Epidemiology of underweight and overweight-obesity among term pregnant Sudanese women.

BACKGROUND: The increasing prevalence of obesity in young women is a major public health concern. Few data are available concerning the epidemiology of malnutrition especially obesity among pregnant women in the developing countries. A cross sectional study was conducted at Khartoum hospital during February-April 2008, to investigate prevalence of underweight, obesity, and to identify contemporary socio-demographic predictors for obesity among term pregnant women in Khartoum Hospital, Sudan. After taking an informed consent, a structured questionnaire was administered to each woman to gather information on educational level, age and parity. Maternal weight and height were measured and expressed as body mass index (BMI - weight (kg)/height (m) 2). FINDINGS: Out of 1690 term pregnant women, 628 (37.1%) were primigravidae, 926 (54.8%) had ≥ secondary educational level (minimum of 8 years) and 1445 (85.5%) were housewives. The mean (SD) of the age and parity were 27.2 (6.3) years and 2.0 (2.1) respectively. Out of these 1690 women, 94(5.5%) were underweight (BMI of ≤ 19.9 Kg/m2), 603 (35.6%) were overweight (BMI of 25 - 29.9 Kg/m2) and 328 (19.4%) were obese (BMI of ≥ 30 Kg/m2).In multivariate analyses, obesity was positively associated with age (OR = 1.2, 95% CI = 1.0-1.1; P< 0.001), and with women's education (OR = 1.8, 95% CI = 1.2-2.7; P = 0.001). Obesity was positively associated with parity in univariate analyses only (OR = 1.1, 95% CI = 1.0-1.2; P = 0.02) CONCLUSION: The high prevalence of obesity in these pregnant women represents a competing public health problem in Sudan. More research is needed.