Search

Primary hyperparathyroidism (PHPT) typically results from parathyroid adenoma, multiglandular hyperplasia, or parathyroid carcinoma. Patients usually present with skeletal manifestations such as low-trauma fractures. Osteitis fibrosa cystica (OFC) is a classic yet rare skeletal manifestation of advanced PHPT currently reported in less than 2% of patients. We present a case of a 29-year-old Indian female who presented with a femur fracture and mandibular OFC 20 days after delivery. The painless mandibular swelling gradually progressed from the third month of pregnancy. The biochemical and radiological investigations were indicative of PHPT-associated OFC. After the excision of the three-and-a-half parathyroid gland, histology revealed benign cystic adenomas and hyperplasia. Based on the associated clinical manifestations, OFC was suspected. Clinical exome sequencing revealed CDC73(+) c.687_688dupAG heterogenous pathogenic autosomal dominant mutation. Undiagnosed PHPT in mothers during pregnancy led to neonatal hypocalcaemic convulsions. With adequate supplementation, the infant recovered completely from transient congenital hypoparathyroidism. OFC is an important diagnosis to consider in a young patient with swelling of the neck and jaw. Simultaneous high levels of PTH and serum calcium should raise a high index of suspicion for OFC. Parathyroidectomy helps manage the biochemical abnormalities and causes regression of the jaw mass that causes facial disfigurement and attenuates the declining BMD. Children born to mothers with PHPT should be evaluated for neonatal hypoparathyroidism and supplemented appropriately to reduce the risk of hypocalcaemic manifestations that can be life-threatening. If the CDC73 mutation is detected, the offspring should be monitored for signs of PHPT due to the high probability of inheritance and parathyroid malignancy.

Type 1 diabetes mellitus (T1DM) has been inconsistently associated with low bone mineral density (BMD) and increased fracture risk. 86 consecutive T1DM cases and 140 unrelated age and sex matched healthy nondiabetic controls were included in the study. After history and examination, BMD and body composition were assessed by dual energy X-ray absorptiometry (DXA). Serum samples were analyzed for calcium, phosphorus, albumin, creatinine, alkaline phosphatase, 25 (OH) vitamin D3, intact parathormone (PTH) levels (both cases and controls) and HbA1c, antimicrosomal and IgA tissue transglutaminase (IgA TTG) antibodies, cortisol, follicle stimulating hormone (FSH), testosterone, sex hormone binding globulin (SHBG), tetraiodothyronine (T4), thyroid stimulating hormone (TSH), growth hormone (GH), insulin-like growth factor-1 (IGF-1), and insulin-like growth factor binding protein 3 (IGFBP3) (cases only). T1DM cases had a lower BMD as compared to controls at both total body (TB) and lumbar spine (LS) (). Patients with celiac autoimmunity (CA) had significantly, lower BMD as compared to age, sex, and body mass index (BMI) matched T1DM controls. Linear regression analysis showed that low BMD in T1DM patients was associated with poor glycaemic control, lower IGF-1 levels, less physical activity (in total population as well as in male and female subgroups), and lower body fat percentage (in females) and higher alkaline phosphatase level (in males) ().