Search

Acromegaly is a rare endocrine disorder characterized by the excessive production of growth hormone (GH) in adulthood. Currently, it is understood that certain pituitary neuroendocrine tumors (PitNETs) exhibit a hereditary predisposition. These tumors’ genetic patterns fall into two categories: isolated and syndromic tumors. The isolated forms are characterized by molecular defects that predispose exclusively to PitNETs, including familial isolated pituitary adenomas (FIPAs) and sporadic genetic defects not characterized by hereditary predisposition. All the categories involve either germline or somatic mutations, or both, each associated with varying levels of penetrance and different phenotypes. This highlights the importance of genetic testing and the need for a more comprehensive view of the whole disease. Despite the availability of multiple treatment options, diagnosis often occurs after several years, and management is still difficult. Early detection and intervention are crucial for preventing complications and enhancing the quality of life for affected individuals. This review aims to elucidate the molecular, clinical, and histological characteristics of GH-secreting PitNETs, providing insights into their prevalence, treatment nuances, and the benefits of genetic testing for each type of genetic disorder associated with acromegaly.

Parathyroid carcinoma (PC) associated with primary hyperparathyroidism (PHPT) has been well investigated in recent years. Data regarding PC evolution in secondary hyperparathyroidism (SHPT) due to chronic kidney disease (CKD) are, however, scarce. Most features that raise the suspicion of PC in PHPT are part of the usual SHPT evolution in CKD, mirroring the natural changes undergone by the parathyroid glands. Therefore, pre-surgically establishing the malignant or benign character of the lesions is cumbersome. We present two cases of PC in end-stage renal disease, one of which was bilateral, diagnosed after total parathyroidectomy in a high-volume parathyroid surgery center. A literature review of the data was also performed. A systematic search of the PubMed/MEDLINE database until January 2024 identified 42 cases of PC associated with SHPT. Understanding the PC features in CKD might improve associated bone and mineral disease management, and reduce the risk of metastasis, parathyromatosis, or recurrence. Irradiation, prolonged immunosuppression, long dialysis vintage, and genotype may predispose to the malignant transformation of chronically stimulated parathyroids. Despite postsurgical diagnosis, favorable outcomes occurred when distant metastases were absent, even without “en bloc” resection. Further research is warranted to delineate specific diagnostic and therapeutic approaches tailored to this particular patient subpopulation.

Abstract Background Despite the increased fracture risk, bone mineral density (BMD) is variable in type 1 (T1D) and type 2 (T2D) diabetes mellitus. We aimed at comparing independent BMD predictors in T1D, T2D and control subjects, respectively. Methods Cross-sectional case-control study enrolling 30 T1D, 39 T2D and 69 age, sex and body mass index (BMI) – matched controls that underwent clinical examination, dual-energy X-ray absorptiometry (BMD at the lumbar spine and femoral neck) and serum determination of HbA1c and parameters of calcium and phosphate metabolism. Results T2D patients had similar BMD compared to T1D individuals (after adjusting for age, BMI and disease duration) and to matched controls, respectively. In multiple regression analysis, diabetes duration – but not HbA1c- negatively predicted femoral neck BMD in T1D (β= -0.39, p = 0.014), while BMI was a positive predictor for lumbar spine (β = 0.46, p = 0.006) and femoral neck BMD (β = 0.44, p = 0.007) in T2D, besides gender influence. Age negatively predicted BMD in controls, but not in patients with diabetes. Conclusions Long-standing diabetes and female gender particularly increase the risk for low bone mass in T1D. An increased body weight partially hinders BMD loss in T2D. The impact of age appears to be surpassed by that of other bone regulating factors in both T1D and T2D patients.

Preptin is a 34-aminoacid peptide derived from the E-peptide of pro-insulin-like growth factor 2 (pro-IGF2) that is co-secreted with insulin and upregulates glucose-mediated insulin secretion. High serum preptin levels were described in conditions associated with insulin resistance, such as polycystic ovary syndrome and type 2 diabetes mellitus (T2M). Insulin and also IGF2 are known to be anabolic bone hormones. The “sweet bone” in T2M usually associates increased density, but altered microarchitecture. Therefore, preptin was proposed to be one of the energy regulatory hormones that positively impacts bone health. Experimental data demonstrate a beneficial impact of preptin upon the osteoblasts. Preptin also appears to regulate osteocalcin secretion, which in turn regulates insulin sensitivity. Preptin is greatly influenced by the glucose tolerance status and the level of physical exercise, both influencing the bone mass. Clinical studies describe low serum preptin concentrations in osteoporosis in both men and women, therefore opening the way towards considering preptin a potential bone anabolic therapy. The current review addresses the relationship between preptin and bone mass and metabolism in the experimental and clinical setting, also considering the effects of preptin on carbohydrate metabolism and the pancreatic–bone loop.

While chronic kidney disease-associated mineral and bone disorders (CKD-MBD) prevail in the endocrinological assessment of CKD patients, other endocrine abnormalities are usually overlooked. CKD is associated with significant thyroid, adrenal and gonadal dysfunction, while persistent and de novo endocrinological abnormalities are frequent among kidney transplant recipients (KTR). Low T3 levels prior to transplantation may help identify those at risk for delayed graft function and are often found in KTR. Thyroid surveillance after kidney transplantation should be considered due to structural anomalies that may occur. Despite the rapid recovery of gonadal hormonal secretion after renal transplantation, fertility is not completely restored. Testosterone may improve anemia and general symptoms in KTR with persistent hypogonadism. Female KTR may still experience abnormal uterine bleeding, for which estroprogestative administration may be beneficial. Glucocorticoid administration suppresses the hypothalamic-pituitary–adrenal axis in KTR, leading to metabolic syndrome. Patients should be informed about signs and symptoms of hypoadrenalism that may occur after glucocorticoid withdrawal, prompting adrenal function assessment. Clinicians should be more aware of the endocrine abnormalities experienced by their KTR patients, as these may significantly impact the quality of life. In clinical practice, awareness of the specific endocrine dysfunctions experienced by KTR patients ensures the correct management of these complications in a multidisciplinary team, while avoiding unnecessary treatment.

Children diagnosticated with idiopathic short stature (ISS) are probably, in most cases, underdiagnosticated. The genetic causes of ISS may be mutations of genes involved in local regulation of the growth plate or genes involved in the GH-IGF1 axis physiology. We present a kindred of five children evaluated for short stature or low normal stature, initially diagnosticated as idiopathic short stature, familial short stature, or being small for gestational age. Clinical signs suggestive of SHOX deletion screening in a child with short stature are low arm span/height ratio, increased sitting height/height ratio, BMI > 50% percentile, Madelung deformity, cubitus valgus, bowing and shortening of the forearm, dislocation of the ulna (at the elbow), and the appearance of muscular hypertrophy. Radiological characteristics suggestive of SHOX deficiency are triangularisation of the distal radial epiphysis, an enlarged diaphysis of the radius plus bowing of the radius, the convexity of the distal radial metaphysis, short fourth and fifth metacarpals, pyramidalization of the carpal row. Treatment with rGH is approved for children with SHOX gene deficiency and short stature. This kindred is an example that familial short stature, idiopathic short stature, and short stature due to a small gestational age are not final diagnoses. Complex investigations are necessary to identify the precise cause, leading to optimal clinical management. Treatment with rGH is an option for some of them; for others, it has no therapeutic response and, in some cases, is even harmful.

The coronavirus 2019 (COVID-19) disease has long-term effects, known as post-COVID conditions (PCC) or long-COVID. Post-COVID-19 syndrome is defined by signs and symptoms that occur during or after severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection which persist for more than 12 weeks and cannot be supported by an alternative diagnosis. The cardiovascular damage caused by COVID-19 in the severe forms of the disease is induced by severe systemic inflammation, considered to be one of the causes of myocardial lesions, with increased levels of circulating cytokines and toxic response mediators. We have focused on conditions that can induce long-COVID-19, or multisystem inflammatory syndrome in adults or children (MIS-C/MIS-A), with an emphasis on endocrinological and metabolic disorders. Although described less frequently in children than in adults, long-COVID syndrome should not be confused with MIS-C, which is an acute condition characterized by multisystem involvement and paraclinical evidence of inflammation in a pediatric patient who tested positive for SARS-CoV-2. At the same time, we mention that the MIS-A symptoms remit within a few weeks, while the duration of long-COVID is measured in months. Long-COVID syndrome, along with its complications, MIS-A and MIS-C, represents an important challenge in the medical community. Underlying comorbidities can expose both COVID-19 adult and pediatric patients to a higher risk of negative outcomes not only during, but in the aftermath of the SARS-CoV-2 infection as well.

Personalized diagnosis can save unnecessary thyroid surgeries, in cases of indeterminate thyroid nodules, when clinicians tend to aggressively treat all these patients. Personalized diagnosis benefits from a combination of imagery and molecular biomarkers, as well as artificial intelligence algorithms, which are used more and more in our timeline. Functional imaging diagnosis such as SPECT, PET, or fused images (SPECT/CT, PET/CT, PET/MRI), is exploited at maximum in thyroid nodules, with a long history in the past and a bright future with many suitable radiotracers that could properly contribute to diagnosing malignancy in thyroid nodules. In this way, patients will be spared surgery complications, and apparently more expensive diagnostic workouts will financially compensate each patient and also the healthcare system. In this review we will summarize essential available diagnostic tools for malignant and benignant thyroid nodules, beginning with functional imaging, molecular analysis, and combinations of these two and other future strategies, including AI or NIS targeted gene therapy for thyroid carcinoma diagnosis and treatment as well.

(1) Background: In the present pilot study, we examined the response of cortisol to a digital version of the Trier Social Stress Test (TSST) and corresponding eating preferences in non-overweight and overweight adolescents. (2) Methods: The experimental study group included 35 adolescents aged 15.7 ± 0.5 years (16 boys and 19 girls). The participants were split into two groups: non-overweight (N = 24) and overweight (N = 11), according to the Body Mass Index (BMI). We induced acute stress in all participants, using a digital version of the Trier Social Stress Test (TSST), with three different digital tasks. We measured salivary cortisol before the test (T0), during the stress induction by digital tasks (T5, T10, T15), and 25 min after the stress test (T40). The Health Behavior in School-Aged Children Questionnaire (HBSC) was administered to assess the influence of stress on eating behavior: the consumption of fruit, vegetables, sweets, and soft drinks and the frequency of snacks. (3) Results: Among the entire group of adolescents, we observed a significant difference between the sexes in terms of cortisol response, girls being predominantly hyperreactive (13 girls compared to 5 boys, p = 0.03). In overweight adolescents, the cortisol reactivity was lower in boys and higher in girls (p = 0.05). The overweight hyperreactive adolescents, as compared to the hyporeactive ones, had a higher frequency of daily consumption of sweets (25% vs. 0%) and soft drink (25% vs. 0). (4) Conclusions: The individual patterns of cortisol reactivity to laboratory-induced stress could be associated with an increased risk of unhealthy eating behavior in adolescents.

Irisin is a novel hormone that provides a possible solution for the treatment of metabolic disorders. Discovered in 2012 by Boström et al., irisin very quickly became an interesting subject in medical research. Irisin has been found in cerebrospinal fluid, the cerebellum, thyroid, pineal gland, liver, pancreas, testis, spleen, adult stomach, and human fetuses. Regarding the actions of irisin, both in animals and humans, the results are contradictory but interesting. Its capability to influence adipose tissue and glycemic homeostasis may be utilized in order to treat hypothyroidism, polycystic ovary syndrome, Prader–Willi syndrome, and other endocrine and metabolic disorders. Considering its osteogenic potential, irisin might be a therapeutic choice in diseases caused by a sedentary lifestyle. New data indicate that irisin treatment may serve in the treatment of severe acute respiratory syndrome coronavirus 2 (SARSCoV-2) infection. Furthermore, several therapeutic agents, such as insulin, metformin, fenofibrate, exenatide, and melatonin, influence the concentrations of irisin in animal models or in humans. Nutritional factors including polyunsaturated fatty acids may also have an effect on irisin concentrations. While it may be “too good to be true,” irisin offers many opportunities for future research that would aim to find its optimal therapeutical role in endocrine and metabolic diseases.

Thyroid cancer (TC) represents a worldwide problem, the consistent growth of the incidence increment issues about management of risk factors and curative treatment. Updated statistical data are not complete in the North East region of Romania and need to be improved. Therefore, through this study, we aim to renew the existing data on thyroid cancer. We conducted a retrospective study covering a period of 10 years. Data were collected from a hospital information system (InfoWorld) between 2009 and 2019. Patients’ age groups were stratified in relation with the age at the moment of the Chernobyl event. A database was obtained (Microsoft Excel) and statistical correlations were applied. In the studied period, 1159 patients were diagnosed: 968 females and 191 males, distributed by region, with the highest addressability in Iasi (529), followed by neighboring counties. Age distribution displayed that most of the thyroid cancers were in the range 4060 years old (50.94%), followed by 60–80 years old (32.41%). Most patients were diagnosed with papillary carcinoma 63.10%, then follicular 14.7%, medullary 6.74% and undifferentiated 1.02%. Romania was in the vicinity of the radioactive cloud at Chernobyl fallout, so we must deliberate whether the increased incidence of thyroid cancer in the age group 40–60 years is associated with radiogenicity (iodine 131) given the fact that over has 35 years and the half-life of other radioisotopes like Caesium-137 and Strontium -90 is completed.