The latest medical research on Diabetes & Metabolism

Primary hyperparathyroidism (PHPT) is a common endocrine condition but rare in the pediatric and adolescent populations. The presentations can be unique, accounting for significant morbidity in the case of untimely detection.

To study surgically treated pediatric PHPT retrospectively.

Surgically treated children of PHPT up to 20 years of age between 2010 to 2022 were analyzed. All of them were operated on by an endocrine surgeon and team.

There was a total of 712 parathyroidectomies over 12 years, out of which there were 52 children (7.3%) had PHPT at less than 20 years of age. This group included 32 male children. The mean age was 16.1 years, including 7 cases of neonatal severe HPT. Multiple Endocrine Neoplasia type 1 was confirmed in 12 children. Presentations were more severe like bone pain (35.13%), renal stones (27.02%), incidental asymptomatic detection (18.9%), failure to thrive (10.8%), and pancreatitis (8.1%) as compared to adults. Mean serum calcium was 12.9 mg/dl (highest-14.1, N-8.8-10.8 mg/dl), mean parathormone levels were 386.91 pg/ml (N-10-65) and vitamin D levels ranged from 2.9-22.8 ng/ml. Localization was done with ultrasound and 99mTc- SESTAMIBI scans. Mean serum calcium levels in NSPHPT were 28.6 mg/dl (N-8.8-10.8 mg/dl). There were a total of 45 cases (6.32%) of PHPT less than 20 years of age, excluding the cases of NSPHPT. All children underwent parathyroidectomy, with 14 cases having an additional thymectomy, 2 cases with thyroidectomy, and a single case of hemithyroidectomy. The cure rate was 97.3%, while one baby with NSPHPT had persistent disease (postop PTH-110 pg/ml). The uniglandular disease was seen in 54.05% and the rest had a multiglandular disease. Adults accounted for 559/660 cases with 80% uniglandular disease. All cases had a postoperative histopathological confirmation with an average follow-up of 1 year.

Childhood PHPT has a few features same as the adult population. Symptomatic presentations like adults, though pancreatitis and fatigue were more commonly seen as compared to bone pain. Calcium, phosphorus, and parathormone levels were comparable. Uniglandular involvement was seen just like the adult population. There are a few others that make them a distinct subtype like their symptoms of bone pain and being more common among boys. One-fourth of them had MEN1. Fewer cases in this age group make them unique.

Studies investigating the alterations of serum irisin and its change with metformin therapy in patients with polycystic ovary syndrome (PCOS) are conflicting. Our aim is to study serum irisin in PCOS patients and the change of irisin levels with metformin therapy over 6 months.

This is a randomized control study conducted in 187 PCOS cases and 94 age-matched controls aged 18-40 years. Detailed evaluation of anthropometric, biochemical, and hormonal parameters was performed. A subset of 99 overweight/obese patients with body mass index (BMI) ≥23 kg/m2 were stratified into a metformin group (n = 67) receiving 500 mg thrice daily and a lifestyle intervention-only group (n = 32). The effect of metformin therapy on serum irisin levels was measured at the end of 6 months. Statistical analyses were performed with SPSS version 26.0 Software.

Serum irisin was higher in PCOS patients than in controls [12.47 (8.1-17.7) vs 8.3 (7.0-9.6) ng/ml, P < 0.001], independent of BMI. Serum irisin showed a significant positive association with BMI (β =0.168), waist-to-hip ratio (β =0.166), leutinizing hormone (β =0.225), TG (β =0.305), FAI (β =0.151), and testosterone (β =0.135). Serum irisin showed a significant positive association with homeostatic model assessment of insulin resistance (HOMA-IR) (β =0.14, P = 0.04) in overweight/obese PCOS patients only (n = 146) but not in the whole PCOS cohort (n = 187). Metformin reduced the median serum irisin levels significantly (13.9 to 12.1 ng/ml, P < 0.001), and the delta change in irisin levels was associated with HOMA-IR in the metformin group.

Serum irisin is increased in PCOS patients independent of BMI. Metformin therapy reduced serum irisin levels in overweight/obese PCOS patients by improving insulin resistance.

Type 2 diabetes (T2D) candidate genes, protein tyrosine phosphatase receptor type D (PTPRD), and serine racemase (SRR) were suggested by a genome-wide association study (GWAS) in the Chinese population. Association studies have been replicated among East Asian populations. The association of PTPRD and SRR genetic variants with T2D in Southeast Asian populations still needs to be studied. This study aimed to investigate the association of PTPRD and SSR genetic variants with T2D in Malaysian Indian subjects.

The single nucleotide polymorphisms (SNPs) of PTPRD (rs649891 and rs17584499) and SRR (rs4523957, rs391300, and rs8081273) were genotyped in 397 T2D and 285 normal Malaysian Indian subjects.

The homozygous dominant genotype of rs17584499 is frequent in diabetic patients (56.5%) compared to normal subjects (47.3%). In contrast, the homozygous recessive genotype of rs8081273 is more frequent among normal subjects (12.5%) than diabetic patients (5.6%). The dominant genetic model showed that PTPRD rs17584499 (CC) is a risk factor for T2D (OR = 1.42, P = 0.029), whereas the recessive genetic model showed that SRS SNP rs8081273 was protective for T2D (OR = 0.42, P = 0.003).

This study confirmed the association of PTPRD rs17584499 genetic variations with T2D in Malaysian Indians. While the SRR rs8081273 (TT) genotype showed protection against T2D, more investigation in different populations is required to confirm this protection.