Di-George syndrome presenting with hypocalcaemia in adulthood: two case reports and a review

This report describes two cases of Di-George syndrome presenting with hypoparathyroidism in adulthood. The first patient presented with profound hypocalcaemia that resulted in a generalised seizure. Routine investigations revealed hypoparathyroidism. The clue to her underlying condition was the postnatal death of her young child. This case shows that Di-George syndrome can present in adulthood with hypocalcaemia in the absence of other classic features of this condition. This has enormous implications for future family planning and may also have important health implications. The second patient, diagnosed on routine blood testing, had previously suffered with a congenital heart condition, but the syndrome was not revealed until she was of postmenopausal age. These two patients show that Di-George syndrome can present in adulthood with hypocalcaemia. This is an important observation because the condition has profound implications for health and family planning

Recurrent severe hyperandrogenism during pregnancy: a case report

This report describes the case of a 28 year old woman with virilisation occurring in two successive pregnancies. Recurrent maternal virilisation is rare (seven previous reports) and this case is unique in its severity. Differential diagnoses include ovarian disease and fetal aromatase deficiency. New techniques to exclude a fetal cause were used in this case. This patient presented during the third trimester of her first pregnancy with rapid onset of hirsuitism, increased musculature, and deepening voice. A blood hormone profile revealed significant hyperandrogenism (testosterone, 72.4 nmol/litre; normal range, 0.5–3.0). She delivered a normal boy and maternal androgen concentrations returned rapidly to normal (testosterone, 0.8 nmol/litre). She presented two years later, during her second pregnancy, with similar symptoms and biochemistry (testosterone, 47.5 nmol/litre). Again, she delivered a healthy normal boy and androgens returned immediately to normal (serum testosterone, 2.0 nmol/litre). Ultrasonography revealed no evidence of ovarian (or adrenal) masses in either pregnancy. Umbilical cord venous blood sampling and placental assays revealed no evidence of fetal aromatase deficiency. Recurrent hyperandrogenism during pregnancy is rare. Ovarian luteoma rarely recurs and hyperreactio luteinalis does not lead to such pronounced androgen concentrations. Therefore, this patient has a unique ovarian condition that could be harmful to offspring and mother

Diabetes and female sexual health: an ongoing challenge

Female sexual health remains a much‐neglected area in diabetes clinical medicine; however, it is important for psychological and social well‐being as well as reproductive function. We aimed to explore the views of women regarding the impact of diabetes on sexual health beyond pregnancy and reproduction. We conducted an online survey distributed via social media platforms including Twitter, Facebook and LinkedIn; the survey remained open for four weeks. Questions addressed a range of medical and psychological factors including body image, self‐esteem and confidence. A total of 258 participants, aged 18–73 years, completed the survey. Results show a significant deterioration over the past 20 years, with issues including negative impact on self‐esteem (68.6%) and relationships (61.6%), feeling less attractive (57.8%), feeling lonely/isolated (66.3%), worries about fertility (52.7%) and pregnancy (69.4%), and worry about diabetes being passed on to children (79.5%). Medical factors included vaginal infections (77.9%), dyspareunia (51.2%), and general orgasmic problems (57.4%). Almost half (49.2%) were unaware that these problems were more common in women with diabetes. Shorter duration of diabetes was negatively associated with self‐esteem (p<0.002), loneliness (p<0.001), and impact on relationships (p<0.017). Those without children and those aged under 35 years were more worried about fertility (p=0.000) and pregnancy (p=0.000). It was concluded that sexual health issues continue to pose challenges for women with diabetes in terms of medical and psychological challenges. The psychosocial aspects of diabetes and sexuality, including feeling unattractive both physically and emotionally are widely reported by participants, demonstrating the very damaging and distressing personal consequences

Cardiovascular risk in women with polycystic ovarian syndrome (PCOS)

Aims: Studies have suggested that polycystic ovary syndrome (PCOS) is associated with increased cardiovascular risk. The aim of this study was to examine cardiovascular risk profiles in women with PCOS compared with healthy age and weight matched control subjects using novel biochemical and biophysical markers. Methods: After ethics committee approval, 11 women with PCOS and 12 controls were recruited (mean age, 32; SD, 6.5 years; mean body mass index (BMI), 33.1; SD, 5.9 kg/m(2)). Serum was analysed for lipid and lipoprotein profile (total and high density lipoprotein cholesterol, triglycerides, apolipoprotein B-100, apolipoprotein A1, lipoprotein (a)), and sialic acid, fibrinogen, homocysteine, and C reactive protein (CRP) concentrations. Endothelial function was also assessed by a standard venous occlusion plethysmography technique to measure reactive hyperaemic forearm blood flow (RH), and expressed as per cent increase from baseline. Results: There were no significant differences in glucose, lipid, or lipoprotein concentrations between the two groups. Furthermore, sialic acid (PCOS: mean, 70.5; SD, 149 mg/litre; controls: mean, 71.3; SD, 112 mg/litre), fibrinogen (PCOS: mean, 3.1; SD, 1.0 g/litre; controls: mean, 3.3; SD, 0.7 g/litre), CRP (PCOS: mean, 4.6; SD, 4.2 mg/litre; controls: mean, 5.4l SD, 5.5 mg/litre), and RH (PCOS: mean, 158.7; SD, 135.5%; controls: mean, 200.1; SD, 114.2%) were similar. Conclusions: There were no differences in surrogate markers of the processes linked to enhanced cardiovascular risk between patients with PCOS and weight matched controls