Background: Spinal muscular atrophy type 3 (juvenile SMA, Kugelberg–Welander disease) is a genetic disease caused by changes in the survival motor neuron 1 (SMN) gene. However, there is increasing evidence of metabolic abnormalities in SMA patients, such as altered fatty acid metabolism, impaired glucose tolerance, and defects in the functioning of muscle mitochondria. Given that data in the literature are scarce regarding this subject, the purpose of this study was to estimate the prevalence of glucose and lipid metabolism disorders in adult patients with SMA type 3. Methods: We conducted a cross-sectional study of 23 adult patients with SMA type 3 who underwent a comprehensive evaluation, including a physical examination, biochemical analysis, and an oral glucose tolerance test during 2020–2023. Results: At least one lipid abnormality was observed in 60.8% of patients. All four lipid parameters were atypical in 4.3% of patients, three lipid parameters were abnormal in 21.7% of patients, and two lipid parameters were altered in 8.7% patients. A total of 91.3% of SMA3 patients met the HOMA-IR criteria for insulin resistance, with 30.43% having impaired glucose tolerance. None of the patients met the criteria for a diagnosis of overt DM2. Conclusions: The prevalence of dyslipidemia and altered glucose metabolism in our study sets apart the adult population with SMA3 from the general population, confirming a significant interplay between muscle, liver, and adipose tissue. Ensuring metabolic care for aging patients with SMA 3 is crucial, as they are vulnerable to metabolic derangements and cardiovascular risks.

Background: Spinal muscular atrophy (SMA) is a severe neuromuscular disorder characterized by the degeneration of alpha motor neurons in the spinal cord, leading to progressive proximal muscle weakness and paralysis. SMA is clinically categorized into four phenotypes based on age of onset and motor function achieved. Patients with SMA type 3 (juvenile, Kugelberg-Welander disease) initially have the ability to walk unaided, but experience a gradual decline in motor abilities over time. However, their lifespan is not affected by the presence of the disease. Leptin, a cytokine-like hormone secreted by adipocytes, has receptors widely distributed in musculoskeletal tissues. Several studies suggest that adiponectin deficiency contributes to the development of insulin resistance, with lower adiponectin levels closely associated with greater insulin resistance and hyperinsulinemia. However, the role of adiponectin in different types of sarcopenia and its connection to insulin sensitivity remains controversial. The purpose of this study was to measure leptin and adiponectin levels in patients with SMA type 3 and explore their association with markers of insulin sensitivity. Methods: This cross-sectional study included 23 adult patients with SMA type 3 (SMA group) and 18 community-based healthy volunteers (control group), conducted from July 2020 to September 2024. Anthropometric parameters, body composition, body fat percentage, surrogate markers of insulin sensitivity (Homeostasis model assessment of insulin resistance index—HOMA-IR and ISI Matsuda), and circulating levels of leptin and adiponectin were measured in all participants. Results: Insulin resistance was present in 91.3% of patients with SMA type 3, as determined by HOMA-IR and ISI Matsuda insulin sensitivity markers. In the control group, 64.7% had insulin resistance (IR) according to HOMA-IR, while 44.4% met the ISI Matsuda criterion for IR, showing a significant difference in peripheral insulin sensitivity between groups. A significant difference in serum adiponectin levels was observed between patients with SMA type 3 and the control group, whereas there was no significant difference in serum leptin concentrations. High adiponectin levels were observed in 50% of patients with SMA type 3. In the healthy control group, adiponectin levels positively correlated with ISI Matsuda and negatively correlated with HOMA-IR, confirming the insulin-sensitizing role of adiponectin. However, this correlation was not observed in patients with SMA type 3. Conclusions: Our results suggest that in this specific type of hereditary neuromuscular disease, the interplay between sarcopenia and insulin leads to adiponectin resistance, challenging the canonical narrative between insulin sensitivity and adiponectin, and indicating a need for further research.

There are three basic modalities for the treatment of thyrotoxicosis: thyrosuppresive drug therapy, ablation with radioactive iodine and surgical treatment. Patients who do not achieve adequate thyrotoxicosis control, as was the case of described patient, have a high mortality rate due to the possibility of developing a thyroid storm. The use of drug therapy for hyperthyroidism, as the first line of treatment, is associated with the appearance of various side effects, as was the case in our patient. Side effects of Methimazole are dose-dependent, while in the case of Propylthiouracil, the occurrence of side effects is not clearly dose-dependent. In the case of the described patient, all alternative, lesser known modalities for the treatment of hyperthyroidism were applied, after the occurrence of adverse reactions to thyrosuppressive therapy. Sodium perchlorate, ie. Sodium with perchloric acid is rarely used in the treatment of hyperthyroidism, as in cases of severe idiosyncratic reactions to thionamides, agranulocytosis or hepatitis, if the eumetabolic state is not achieved and the application of a therapeutic dose of radioiodine is not possible. It is applied in the form of a solution, usually 8%; In more severe forms of the disease, when hyperthyroidism is very pronounced, 10 to 15 drops a day are given 4 to 6 times and the dose is sometimes reduced to the minimum maintenance dose. After the adverse reaction even to sodium perchlorate therapy we were left with one more, last option-Plasma Therapy exchange. Plasma Therapy Exchange (TPE) is an out-of-body blood purification technique designed to remove high-molecular-weight substances bound to plasma proteins (autoantibody pathogens, immunocomplexes, cryoglobulins, myeloma light chains, endotoxins, lipoprotein-containing cholesterol, and thyroid). The effectiveness of treatment depends on the volume of blood being processed, the volume of plasma exchanged in each process, the number of procedures performed, the frequency of exchange and the rate of mobilization, stabilization and re-synthesis of cells or plasma components. TPE is an effective alternative treatment that provides an opportunity to prepare patients for definitive treatment: ablative therapy such as RAI ablation or thyroidectomy. Therapeutic plasmapheresis, if performed in specialist centers, is a safe, fast and effective method.

Syndrome Fahr is described as calcification of the basal ganglia and is a rare inherited or sporadic neurological disease with a prevalence of 1:1000000 (1). For the first time described in 1930 in the works of Dr. Karl Theodor Fahr, it is characterized by calcium deposition in areas of the brain to control movement: basal gamma, thalamus, cerebral cortex, cerebellum, dentate nucleus, subcortical white matter and hippocampus (2). The diagnostic criteria were revised and modified by Moskowitz et al. in 1971., Ellie et al. in 1989. and Manyam in 2005. and include: bilateral calcifications of the basal ganglia confirmed by neuroradiological visualization, progressive neurological dysfunction and neuropsychiatric manifestations, absence of biochemical and somatic entities of mitochondrial disease, absence of infectious, traumatic, or toxic etiology, and autosomal dominant inheritance (2,3,4). Etiologically, endocrine diseases, and especially parathyroid gland dysfunction, are closely related to Farr's syndrome, including idiopathic hypoparathyroidism, secondary hypoparathyroidism, pseudohypoparathyroidism, pseudo-pseudohypoparathyroidism, and hyperparathyroidism. Pseudo and pseudo-pseudohypoparathyroidism are defined by a phenotypic spectrum induced by a mutation in RNA. They manifest on average at the age of 8 to 10, with clinical manifestations very similar to hypoparathyroidism, except for a slightly more pronounced intellectual declension. The term pseudohypoparathyroidism (PHP) for subtypes PHP type IA and PHP type 1C includes diseases that share the biochemical characteristics of hypoparathyroidism (hypocalcemia and hyperphosphatemia), and which are the consequences of resistance of target tissues to the action of parathyroid hormone. In some cases, resistance to TSH, gonadotropins, GHRH and calcitonin, which have receptors bound to the Gs Alpha subunit, is detected. Patients with type 1A and type 1C PHP show diverse phenotypic expression combined by the term Albright hereditary osteodystrophy (AHO), which includes premature closure of bone and short bone growth zones, low growth, ectopic calcifications. More specifically, based on the dissemination of ectopic calcifications, patients were classified into three categories: pseudohypoparathyroidism, progressive bone heteroplasia, and osteoma cutis. Our patient was diagnosed as pseudohypoparathyroidism at an early age based on the phenotype characteristics of AHO and the biochemical findings of hypocalcemia. Substitution therapy with vitamin D and calcium was introduced, and after pronounced changes in behavior, feelings of being followed and extreme anxiety, he was hospitalized in the Clinic for Neurology and in the Clinic for Endocrinology, Clinical Center of Serbia. Neurofunctional studies have shown progressive decline in intellectual function, neuroradiologically were detected zones of calcification of the basal ganglia and frontal subcortical white matter, as well as hypothyroidism as a consequence of TSH resistance. High concentrations of calcitonin were detected, also as a consequence of resistance of target tissues to calcitonin.

Epileptic seizures are defined as the transient appearance of signs or symptoms due to excessive or synchronous neuronal activity in the cerebral cortex. Pheochromocytomas and paragangliomas (PPGL) are tumors of chromaffin cells that arise from the medulla of the adrenal gland in 80-85% of patients and from the extra-adrenal sympathetic tissue of the abdomen, pelvis and chest in 10-20% of patients. The clinical picture of PPGL is variable and ranges from the absence of symptoms to severe clinical picture, depending on the biochemical profile. They are most often manifested by paroxysmal hypertension, followed by episodes of severe headache or diaphoresis, while epileptic attacks are rare. Neurological symptoms are present in many patients with PPGL. Also, paroxysmal neurological conditions such as vasodilating headache, intracranial tumors, diencephalic-autonomic epilepsy, hypertensive encephalopathy, focal arterial disease of the brain and anxiety state have been described, which may have similar clinical manifestations with pheochromocytomas. We present a 44-year-old woman, who has been diagnosed with pheochromocytoma as possible etiological basis of epileptic seizures. Pheochromocytoma, with its low incidence and "chameleon" clinical spectrum, should be considered as a potential etiological factor of convulsions.

Background: Less than 0.1% of ovarian cancers are ovarian steroid cell tumors, which are very uncommon sex cord-stromal neoplasms. A rare and usually benign form, stromal luteomas primarily affect postmenopausal women. These tumors can have major hormonal consequences despite their small size. The most common symptom is estrogen excess; androgen release with virilization is uncommon and might be challenging to spot, especially when imaging is subtle. Case Presentation: A 57-year-old postmenopausal woman presented with a three-year history of escalating hyperandrogenism, which included clitoromegaly, frontotemporal hair thinning, deeper voice, and quickly deteriorating hirsutism. Laboratory analyses revealed significantly elevated serum testosterone levels, reaching the male reference range, accompanied by reduced gonadotropins. Androstenedione and DHEAS levels were within normal ranges. Cushing’s syndrome and congenital adrenal hyperplasia were excluded. Although transvaginal color Doppler ultrasonography revealed asymmetric ovarian enlargement of the left ovary, initial imaging revealed neither ovarian nor adrenal tumors. The patient underwent a bilateral oophorectomy performed laparoscopically. A 1.5-cm steroid cell tumor of the left ovary, compatible with stromal luteoma, was verified by histopathology and immunohistochemistry. Following surgery, testosterone levels rapidly returned to normal, while virilizing features gradually regressed. Conclusions: This example highlights how, even in cases when initial imaging is unremarkable, postmenopausal women with rapid virilization and noticeably higher testosterone levels should be evaluated for rare androgen-secreting ovarian tumors. A timely diagnosis requires a complete assessment of ovarian morphology and a thorough endocrine evaluation. Both biochemical abnormalities and clinical signs can be resolved with surgical excision, which offers a definitive treatment.