Recurrent ovarian torsion in a premenarchal girl

A 10-year-old girl presented with a recurrence of left ovarian torsion where she presented with intermittent left sided abdominal pain for 2 days. She had a similar presentation occuring 1 month ago. The patient underwent successful ovarian salvage with laparoscopic left ovary detorsion and bilateral oophoropexy 5 hours after presentation. Tumour markers were not raised. Intraoperative incisional ovarian biopsy showed no evidence of malignancy. Ovarian torsion is a rare gynaecological emergency in children with nonspecific symptoms. Early recognition and surgery are important to prevent ovarian necrosis. The presentation of acute onset unilateral abdominal pain on the background of a similar previous presentation should alert the clinician of this diagnosis. Although ovarian torsions occur more commonly in the presence of adnexal masses more than 5cm in size, it can also occur in normal ovaries especially in the premenarchal age group. Laparoscopic detorsion is the treatment of choice with oophoropexy a feasible option for prevention of a recurrence. Close follow up with ovarian surveillance is required to ensure resolution of ovarian enlargement

Association of BMI, lipid-lowering medication, and age with prevalence of type 2 diabetes in adults with heterozygous familial hypercholesterolaemia: a worldwide cross-sectional study

Background: Statins are the cornerstone treatment for patients with heterozygous familial hypercholesterolaemia but research suggests it could increase the risk of type 2 diabetes in the general population. A low prevalence of type 2 diabetes was reported in some familial hypercholesterolaemia cohorts, raising the question of whether these patients are protected against type 2 diabetes. Obesity is a well known risk factor for the development of type 2 diabetes. We aimed to investigate the associations of known key determinants of type 2 diabetes with its prevalence in people with heterozygous familial hypercholesterolaemia. Methods: This worldwide cross-sectional study used individual-level data from the EAS FHSC registry and included adults older than 18 years with a clinical or genetic diagnosis of heterozygous familial hypercholesterolaemia who had data available on age, BMI, and diabetes status. Those with known or suspected homozygous familial hypercholesterolaemia and type 1 diabetes were excluded. The main outcome was prevalence of type 2 diabetes overall and by WHO region, and in relation to obesity (BMI ≥30·0 kg/m2) and lipid-lowering medication as predictors. The study population was divided into 12 risk categories based on age (tertiles), obesity, and receiving statins, and the risk of type 2 diabetes was investigated using logistic regression. Findings: Among 46 683 adults with individual-level data in the FHSC registry, 24 784 with heterozygous familial hypercholesterolaemia were included in the analysis from 44 countries. 19 818 (80%) had a genetically confirmed diagnosis of heterozygous familial hypercholesterolaemia. Type 2 diabetes prevalence in the total population was 5·7% (1415 of 24 784), with 4·1% (817 of 19 818) in the genetically diagnosed cohort. Higher prevalence of type 2 diabetes was observed in the Eastern Mediterranean (58 [29·9%] of 194), South-East Asia and Western Pacific (214 [12·0%] of 1785), and the Americas (166 [8·5%] of 1955) than in Europe (excluding the Netherlands; 527 [8·0%] of 6579). Advancing age, a higher BMI category (obesity and overweight), and use of lipid-lowering medication were associated with a higher risk of type 2 diabetes, independent of sex and LDL cholesterol. Among the 12 risk categories, the probability of developing type 2 diabetes was higher in people in the highest risk category (aged 55–98 years, with obesity, and receiving statins; OR 74·42 [95% CI 47·04–117·73]) than in those in the lowest risk category (aged 18–38 years, without obesity, and not receiving statins). Those who did not have obesity, even if they were in the upper age tertile and receiving statins, had lower risk of type 2 diabetes (OR 24·42 [15·57–38·31]). The corresponding results in the genetically diagnosed cohort were OR 65·04 (40·67–104·02) for those with obesity in the highest risk category and OR 20·07 (12·73–31·65) for those without obesity. Interpretation: Adults with heterozygous familial hypercholesterolaemia in most WHO regions have a higher type 2 diabetes prevalence than in Europe. Obesity markedly increases the risk of diabetes associated with age and use of statins in these patients. Our results suggest that heterozygous familial hypercholesterolaemia does not protect against type 2 diabetes, hence managing obesity is essential to reduce type 2 diabetes in this patient population. Funding: Pfizer, Amgen, MSD, Sanofi-Aventis, Daiichi-Sankyo, and Regeneron

Metabolic bone disease of prematurity: discerning calcium versus phosphorus deficiency and role of calcitriol in its management

Introduction: Metabolic bone disease of prematurity (MBDP) is prevalent among preterm infants despite major advances in neonatal care. Initial and ongoing assessment of complete bone metabolic markers help direct correct therapeutic mineral replacement. Case Presentation: A preterm infant of 30 weeks gestation and birth weight 1 kg sustained multiple spontaneous metaphyseal fractures at 5 months of age. The infant had multiple comorbidities including perforated necrotizing enterocolitis, chronic lung disease, short gut syndrome, and total parenteral nutrition-related cholestasis. Initial metabolic bone profile showed a rising trend of alkaline phosphatase (ALP) with normal calcium and declining phosphorus levels despite ongoing phosphorus supplements. Further workup showed elevated parathyroid hormone (PTH), low tubular reabsorption of phosphate (TRP), and low 25-hydroxyvitamin D (25(OH)D) levels, suggesting calcium/vitamin D deficiency with secondary hyperparathyroidism rather than inadequate phosphorus intake. Calcium and vitamin D supplementation were commenced and optimized, resulting in a decline in PTH, but ALP remained elevated. Treatment with calcitriol at dose range of 0.07 mcg/kg/day to 0.12 mcg/kg/day for 4.5 months duration led to a fall in ALP and PTH to near normal levels. Conclusion: Early nutrition with focus on calcium, phosphorus, and vitamin D is crucial to prevent MBDP. MBDP assessment should include serum PTH, TRP, and 25(OH)D levels to determine the specific mineral deficiency so that calcium, phosphorus, or vitamin D can be supplemented appropriately. Calcitriol is an effective treatment modality for calcipenic rickets where targeted mineral supplementation has been optimized

Metabolic Bone Disease of Prematurity: Discerning Calcium Versus Phosphorus Deficiency and Role of Calcitriol in Its Management

Introduction: Metabolic bone disease of prematurity (MBDP) is prevalent among preterm infants despite major advances in neonatal care. Initial and ongoing assessment of complete bone metabolic markers help direct correct therapeutic mineral replacement. Case Presentation: A preterm infant of 30 weeks gestation and birth weight 1 kg sustained multiple spontaneous metaphyseal fractures at 5 months of age. The infant had multiple comorbidities including perforated necrotizing enterocolitis, chronic lung disease, short gut syndrome, and total parenteral nutrition-related cholestasis. Initial metabolic bone profile showed a rising trend of alkaline phosphatase (ALP) with normal calcium and declining phosphorus levels despite ongoing phosphorus supplements. Further workup showed elevated parathyroid hormone (PTH), low tubular reabsorption of phosphate (TRP), and low 25-hydroxyvitamin D (25(OH)D) levels, suggesting calcium/vitamin D deficiency with secondary hyperparathyroidism rather than inadequate phosphorus intake. Calcium and vitamin D supplementation were commenced and optimized, resulting in a decline in PTH, but ALP remained elevated. Treatment with calcitriol at dose range of 0.07 mcg/kg/day to 0.12 mcg/kg/day for 4.5 months duration led to a fall in ALP and PTH to near normal levels. Conclusion: Early nutrition with focus on calcium, phosphorus, and vitamin D is crucial to prevent MBDP. MBDP assessment should include serum PTH, TRP, and 25(OH)D levels to determine the specific mineral deficiency so that calcium, phosphorus, or vitamin D can be supplemented appropriately. Calcitriol is an effective treatment modality for calcipenic rickets where targeted mineral supplementation has been optimized. </jats:sec