The aim of the study is to describe the clinical features of two unrelated patients with resistance to thyroid hormones (RTH), the first, a total thyroidectomized patient, and the second, a pregnant woman. We report the features found in her newborn who also showed RTH. Patient 1 is a 38-year-old man with total thyroidectomy managed for excessive thyroid stimulating hormone (TSH) production, which poorly responded to the replacement therapy. He was found with a THRβ c.1378G>A p.(Glu460Lys) heterozygous mutation, which was also present in other members of his family (son, brother, and father). Interestingly, Patient 1 had hypertension, dyslipidemia, and hepatic steatosis, which have been recently suggested as RTH-related comorbidities. Patient 2 is a 32-year-old pregnant woman with multinodular goiter, and the THRβ heterozygous variant c.959G>C, that, to the best of our knowledge, has been reported in literature only once. Her newborn had tachycardia and increased thyroid hormone levels, and showed the same mutation. After delivery, high parathyroid hormone (PTH) and calcium serum levels were found in Patient 2 and the scintigraphy showed the presence of adenoma of a parathyroid gland. This case-series study provides a practical example of the management of RTH in a thyroidectomized patient, a pregnant woman, and a newborn. A novel RTH pathogenic mutation is described for the second time in literature. Furthermore, the importance of metabolic assessment in patients with RTHβ has been highlighted and the possible correlation between RTH and primary hyperparathyroidism is discussed.

Background: Diencephalic Syndrome is an atypical early manifestation of low-grade gliomas; so, it is important to detect it in patients that experience a failure to thrive despite adequate length growth and food intake. The purpose of this article is to focus attention on this rare but potentially dangerous cause of poor weight gain or stunting in childhood. Materials and Methods: We describe four patients with Diencephalic Syndrome and low-grade gliomas who were evaluated in our institution from January 2017 to December 2021. Case Description and Results: two patients presented with suspected malabsorption, and two presented with a suspected eating disorder. In all cases, neurological symptoms appeared late, explaining the reason for the diagnostic delay, which impacts negatively on prognosis and on quality of life. Currently, patients 1 and 2 have stable disease in second-line therapy, patient 3 has stable disease post end of second-line therapy, and patient 4 has stable disease in first-line therapy. Everyone is in psychophysical rehabilitation. Conclusions: A multidisciplinary evaluation is essential in order to make an early diagnosis and improve prognosis and quality of life.

Cystic fibrosis-related diabetes is a complication of cystic fibrosis (CF). Our study aimed to evaluate the effects of insulin therapy in overt diabetics or pre-diabetics CF patients on BMI and respiratory function. We selected a sample of 17 insulin-treated patients (Group T) and a sample of 17 CF control patients with normal glucose metabolism (Group C). Group T was also subdivided into overt-diabetic patients and pre-diabetic patients (IGT, INDET). For treated patients, an observation period was established from the first insulin administration to 12 months. For control patients, a comparable year of observation was chosen. Data regarding BMI, FVC, FEV1, and PEF were collected at time 0, and at time 12. The number of hospital admissions for infectious episodes during the year of observation and the preceding year was recorded for Group T patients. The results showed a significant increase in BMI in treated patients compared to control, especially for overt diabetics. The study of spirometric parameters showed a significant improvement in PEF, the main effort-dependent respiratory index, especially for over-diabetics, suggesting a hypothetical positive impact of the insulin anabolic action on the magnitude of expiratory effort. In contrast, the study of infectious episodes revealed a significant reduction in hospital admissions in pre-diabetic treated patients. Overall, our study focuses on the importance of glycemic monitoring during the early stages of CF disease and the advantage of insulin treatment in the early stages of glucose alteration. (www.actabiomedica.it)