Late presentation of simple virilising 21-hydroxylase deficiency in a Chinese woman with Turner's syndrome.

Classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency is a well-known disorder of sexual development (previously known as ambiguous genitalia) in genotypic female neonates. We report on a 66-year-old Chinese, brought up as male, with a simple virilising form of congenital adrenal hyperplasia associated with Turner's syndrome (karyotype 45,X/47,XXX/46,XX). His late presentation was recognised due to his exceptionally short stature and persistent sexual ambiguity. His condition was only brought to medical attention as he developed a huge abdominal mass, which later turned out to be a benign ovarian mucinous cyst. It is therefore important to look out for co-existing congenital adrenal hyperplasia in patients with Turner's syndrome and virilisation, after the presence of Y chromosome material has been excluded.

Risk of development of diabetes mellitus in Chinese women with persistently impaired glucose tolerance after gestational diabetes.

OBJECTIVES: To estimate the cumulative incidence for the development of diabetes mellitus in Chinese women with persistently impaired glucose tolerance after gestational diabetes, and evaluate putative risk factors. DESIGN: Historical cohort study. SETTING: A regional hospital in Hong Kong. PATIENTS: Women with postpartum impaired glucose tolerance (as confirmed by a 75-gram oral glucose tolerance test 6 weeks after delivery) seen between January 2000 and December 2006. RESULTS: After a mean follow-up period of 52 (standard deviation, 22; range, 12-106) months, 47 (20%) of the 238 women converted to diabetes mellitus. Concomitant postpartum impaired fasting plasma glucose levels increased the risk of future diabetes mellitus by 3.5-fold (95% confidence interval, 1.7-7.0; P=0.001) when compared to those with postpartum impaired glucose tolerance only. Based on multivariate analysis, only antepartum and postpartum fasting plasma glucose levels predicted future development of diabetes mellitus. At 1 year after delivery in 95/159 (60%) of the women, glucose tolerance regressed to normal, while in only 9/159 (6%) it progressed to diabetes mellitus. At this stage, 29% of those with impaired glucose regulation (impaired glucose tolerance, impaired fasting glucose or both) compared to 2% of those whose glucose tolerance reverted to normal developed diabetes mellitus upon subsequent follow-up (P<0.001). In all, 24/159 (15%) fulfilled the definition of metabolic syndrome and its presence was associated with 4.7-fold increased risk of future diabetes mellitus (95% confidence interval, 1.7-13.4; P=0.004). CONCLUSIONS: Women with persistent postpartum impaired glucose tolerance after gestational diabetes have a high risk of developing diabetes mellitus. However, a significant proportion of these women regress to normal glucose tolerance 1 year after delivery, and their risk of progression to diabetes mellitus is lower than those with persistent impaired glucose regulation. Therefore, women with a history of gestational diabetes, particularly those with persistent glucose intolerance 6 weeks and 1 year after delivery, should have regular surveillance for the development of diabetes mellitus.