No abstract

The calcium sensing receptor (CASR) is expressed most abundantly in the parathyroid glands and the kidney. CASR regulates calcium homeostasis through its ability to modulate parathormone secretion and renal calcium reabsorption. Inactivating mutations in the CASR gene may result in disorders of calcium homeostasis manifesting as familial benign hypocalciuric hypercalcemia (FBHH) and neonatal severe hyperparathyroidsm (NSHPT). Two cases were referred with severe hypercalcemia in the neonatal period. Laboratory evaluation revealed severe hypercalcemia and elevated PTH. The parents also had mild hypercalcemia. The serum calcium level did not normalize with conventional hypercalcemia treatment and there was also no response to cinacalcet in case 1. Total parathyroidectomy was performed when the patient was 70 days old. Genetic analysis revealed a novel homozygous p.Arg544* mutation in the CASR gene. Case 2 underwent total parathyroidectomy and autoimplantation when she was 97 days old, but the parathyroid gland implanted into the forearm was removed 27 days later because the hypercalcemia continued. Genetic evaluation revealed a novel homozygous p.Pro682Leu mutation with normal anthropometric measurements. The neurological development is consistent with age in both cases while case 2 has mild mental retardation. No bone deformity or fracture is present in either case and normocalcemia is ensured with calcitriol in both cases.

No abstract

Background: Currently, there is an inadequate number of studies on nodule and malignancy development in children and adolescents with Hashimoto thyroiditis (HT). Material and Methods: Patients who were diagnosed with HT between 2004 and 2013 were included in the study. The HT diagnosis was made with a heterogeneous appearance on thyroid ultrasonography and the elevation of antithyroid peroxidase and/or anti-thyroglobulin antibodies. Fine-needle aspiration biopsy (FNAB) was performed in cases with a nodule size >1 cm or who had ultrasonography findings indicating malignancy. Results: A total of 39 (13%) thyroid nodules were detected in 300 patients with a diagnosis of HT. Papillary thyroid carcinoma (PTC) was diagnosed in 2 of the 12 cases in whom FNAB was performed. The thyroid nodule was detected at the same time as HT in the 2 cases with malignancy. The PTC diagnosis was made 2 years after the HT diagnosis in the first case and 3 years later in the second case. The largest diameter of the thyroid nodule was 5 mm in both cases. Conclusion: The thyroid nodule rate on an HT background was found to be 13%, and the thyroid malignancy rate was 0.67% in our study.

Objective: To investigate the effects of treatment with gonadotropin-releasing hormone analog (GnRHa) on final height in girls who experienced moderately early puberty with symptoms beginning at 7-8.5 years of age.Methods: Female cases diagnosed with moderately early puberty which had started between ages 7 to 8.5 years were included in the study. In the treatment groups, all cases with a bone age ≤10.5 years constituted group 1 (n=18) and those with a bone age >10.5 years constituted group 2 (n=23). The 8 patients for which treatment approval could not be obtained constituted group 3. The 49 cases in all three groups were observed until they reached their final height.Results: Target height, target height standard deviation score (SDS), final height, and final height SDS values were similar in all 3 groups. Final height showed a significant positive correlation with target height (p=0.000, r=0.54) and height at diagnosis (p=0.003, r=0.467) in all groups. Linear regression analysis revealed that a 1 cm longer height at diagnosis increased the final height 0.213 fold, and a 1 cm longer target height at diagnosis increased the final height 0.459 fold.Conclusion: We found that GnRHa did not make a positive contribution to final height in cases of moderately early puberty.

Background/Aims: We aimed to investigate whether the anti-Müllerian hormone (AMH) levels in adolescents with polycystic ovary syndrome (PCOS), PCOS risk, and isolated oligomenorrhea (OM) were different than in adolescents with a normal/regular menstrual cycle (NMC). Methods: The diagnosis of PCOS was based on the 2012 Amsterdam [European Society of Human Reproduction and Embryology/American Society for Reproductive Medicine (ESHRE/ASRM)] criteria. The PCOS group consisted of cases meeting 3 diagnostic criteria (n = 21), and the PCOS risk group was the ‘at risk' group meeting 2 diagnostic criteria (n = 20). Cases with isolated OM that did not satisfy other PCOS diagnostic criteria made up the OM group (n = 21). Thirty adolescent girls with NMCs (21-45 days) were recruited in this study. Results: The AMH levels in the PCOS group were similar to those in the PCOS risk group but significantly higher than those in the OM and NMC groups. The AMH levels in the PCOS risk group were similar to those in the OM group and significantly higher than those in the NMC group. They were also significantly higher in the OM group compared to the NMC group. The specificity for PCOS and PCOS risk with a cutoff value of 7.25 ng/ml for AMH was 72.5% and the sensitivity was 58%. Conclusion: An AMH cutoff value of 7.25 ng/ml can be used for the diagnosis of PCOS in the adolescent period.

The final height of the patients who were treated during childhood was found to be shorter than the final height of patients during the adolescent period.

Background: Insulin autoimmune syndrome (IAS) is a condition characterized by hypoglycemia associated with the presence of autoantibodies to insulin in patients who have not been injected with insulin. Case Report: A female patient (aged 16 years and 3 months) presented with the complaint of being overweight. Physical examination revealed a body weight of 78.2 kg (+2.6 SD) and a height of 167 cm (+0.73 SD). While the patient's fasting blood glucose level was found to be 40 mg/dl, blood ketone was negative and the serum insulin level was determined as 379 mIU/ml. The patient was diagnosed with hyperinsulinemic hypoglycemia. Abdominal ultrasound, pancreas MRI and endoscopic ultrasound were normal. The daily blood glucose profile revealed postprandial hyperglycemia and reactive hypoglycemia in addition to fasting hypoglycemia. The results of anti-insulin antibody measurements were as high as 41.8% (normal range 0-7%). A 1,600-calorie diet containing 40% carbohydrate and divided into 6 meals a day was given to the patient. Simple sugars were excluded from the diet. Hypoglycemic episodes were not observed, but during 2 years of observation, serum levels of insulin and anti-insulin antibodies remained elevated. Conclusion: In all hyperinsulinemic hypoglycemia cases, IAS should be considered in the differential diagnosis and insulin antibody measurements should be carried out.