ACTA ENDOCRINOLOGICA (BUC)

Proprotein convertase 1/3 (PC 1/3) deficiency is a rare, autosomal recessive disorder caused by mutations in the PCSK1 gene. The disease is characterized by earlyonset chronic diarrhea/malabsorption, followed by severe obesity and hormonal deficiencies such as hypocortisolism, hypothyroidism, diabetes insipidus, hypogonadism, growth deficiency, and diabetes mellitus. Ewing’s sarcoma is a rare tumor, usually of small dimensions of neuroectodermal origin that is difficult to distinguish pathologically from a primitive neuroectodermal tumor. A 22-year-old female patient with PC 1/3 deficiency was admitted to our clinic with recurrent urinary tract infections. Magnetic resonance imaging (MRI) revealed an 11x12 cm pelvic mass displacing the uterus. A core-needle biopsy was performed on the pelvic mass. As a result of the pathological evaluation, ıt was diagnosed with pelvic Ewing’s sarcoma. The patient was started on the VAC-IE chemotherapy protocol. We report a case of pelvic Ewing’s sarcoma in a patient with PC 1/3 deficiency. Further research is needed to assess malignancy risk in metabolic disorders including very rare disorders like PC 1/3 deficiency.

Introduction. Primary hyperparathyroidism may have several presentations, varying from an incidental asymptomatic biochemical finding to gastrointestinal, psychiatric, renal and bone manifestations. Brown tumors are rare non-neoplastic lesions because of abnormal bone metabolism. Herein, we describe a patient who presented with lytic bony lesions and severe asymptomatic hypercalcemia due to parathyroid adenoma. Case presentation. A 38-year-old male presented with multiple painful bony lesions over upper and lower limbs. Radiographs of long bones showed multiple lytic lesions with cortical thinning. Investigations revealed hypercalcemia and hyperparathyroidism. A radionuclide scan showed parathyroid adenoma. The patient was treated for hypercalcemia and a parathyroidectomy was performed. Conclusions. In a patient presenting with multiple bony swellings and asymptomatic hypercalcemia, hyperparathyroidism should be suspected. Parathyroid adenoma is a treatable cause of primary hyperparathyroidism.

Recent studies suggest that osteopontin (OPN) could be used as an early marker for the diagnosis of bone disorders. Considering the contradictory opinions in the literature, the objective of this systematic review is to analyse the current information regarding the relationship between OPN and bone mineral density (BMD), which represents an important process in the development of osteoporosis. We performed a literature search of clinical trials using the PubMed database, published between 1999-2020, and identified 7 studies that were eligible for analysis. The eligibility criteria were based on studies that analysed the relationship between osteopontin and bone mineral density on human subjects. Conclusion: serum OPN levels might be used as a biomarker of the early diagnosis of osteoporosis in postmenopausal women, with or without osteoporotic vertebral fractures.

Context. Diabetic pseudoperitonitis is a very rare complication of the type 1 diabetes mellitus and it is associated with a severe ketoacidosis. The exact pathogenesis of the status is still unclear, the typical presentation is an acute abdomen by the patient. To confirm the diagnosis, it is necessary to make examinations, which exclude other possible reason of an acute abdomen by the patient (laboratory tests, abdominal ultrasound or a CT scan). Case presentation. A 46-years old man was admitted to the hospital wih a history of a 10 days epigastric pain. Laboratory tests, abdominal ultrasound, CT scan and upper endoscopy were performed, the reason of the pain remained unclear. Because of the peritoneal signs at the first day of the hospitalisation an acute surgery was indicated, without any pathology at the laparoscopy. A severe metabolic acidosis was recognized only after the surgery, the initial hypoglycaemia rose up after giving a total parenteral nutrition to the patient. The increase of the glycaemia, the severe metabolic acidosis with glycosuria and ketonuria, and the elevation of the glycated haemoglobin brought us to the diagnosis of the new onset of the diabetes. Conclusion. Diabetic pseudoperitonitis with the picture of an acute abdomen can occur as a first manifestation of the diabetes. Thinking of this rare complication and recognising it can avoid unnecessary acute surgery by the patient.

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Introduction. Glucocorticoids (GC) are largely used for their anti-inflammatory and immunosuppressive effects. Until recently “local” administration (inhalation, topical, intra-articular, ocular and nasal) was considered devoid of important systemic side effects, but there is no administration form, dosing or treatment duration for which the risk of iatrogenic Cushing’s syndrome (CS) and consequent adrenal insufficiency (AI) can be excluded with certainty. Patients and methods. We present the case of a pregnant woman who developed overt CS with secondary AI in the second trimester of pregnancy. She had low morning plasma cortisol 6.95 nmol/L (normal non-pregnant range 166 – 507) and low ACTH level 1.54 pg/mL (normal range 7.2 – 63.3), suggestive for iatrogenic CS. A thorough anamnesis revealed chronic sinusitis long-term treated with high doses of intranasal betamethasone spray (6 - 10 applications/day, approximately 10 mg betamethasone/week, for 5 months). After decreasing the dose and switching to an alpha-1 adrenergic agonist spray, the adrenal function recovered in a few weeks without manifestations of AI. The patient underwent an uneventful delivery of a normal baby. A review of the literature showed that only a few cases with exogenous CS and consequent AI caused by intranasal GC administration were described, mostly in children, but none during pregnancy. Conclusion. Long-term high doses of intranasal GC may induce iatrogenic CS and should be avoided. Low levels of ACTH and cortisol should prompt a detailed anamnesis looking for various types of glucocorticoid administration.

Context. Subacute thyroiditis (SAT) is an inflammatory disease of the thyroid gland and commonly affects females. Despite adequate treatment, the recurrence of SAT can be seen in some patients. Although there is insufficient data about the reasons for recurrences, HLA predisposition is one of the reasons thought to be responsible and is a current issue for clinicians. Objective. This case report presented the management of 7 SAT attacks of a patient who had HLA-B35:01 and B41:02 alleles in the genotype analysis. Case Report. A 37-year-old male patient who had consecutive 7 SAT attacks was presented in this report. Corticosteroid or non-steroidal anti-inflammatory drugs were initiated at each recurrence depending on the severity of clinical symptoms and laboratory findings. The genotype analysis showed the positivity for HLA-B35:01 and B41:02 alleles. The anti-thyroglobulin antibody was detected positive after the last attack. The patient was followed up as asymptomatic and euthyroid in the third month after the last attack. Results. The management of some SAT cases may be challenging for clinicians. Although recurrence can be seen despite adequate treatment, repetitive seven attacks are extraordinary in SAT. HLA genotyping showed cooccurrence of HLA-B35:01 and B41:02 alleles in our patient. The co-occurrence of these alleles has been described firstly in this case. Explaining high recurrence rates of SAT with these HLA alleles is difficult, though the present case may shed light on further studies.

Context. Diabetes is a chronic disorder with a complex pathogenetic background including monogenic, polygenic, and environmental causes. Objective. The aim of the present paper is to share the information related to genetic and clinical data of large pediatric diabetes cohort. Design. The present study retrospectively analyzes genetic and clinical findings of subjects diagnosed with diabetes under the age of 18 year and are in follow-up in a pediatric diabetes referral center. Subjects and Methods. Out of 1205 children with diabetes (902 treated with insulin) 246 underwent genetic tests on the basis of clinical selection criteria since 2007. Results. One hundred and ten variants related to diabetes were found in 89 of them. Age at presentation was 9.5±4.02 years (F/M 44/45). In total 49 pathogenic and likely pathogenic, 11 “hot and warm” of unknown significance variants were found in fourteen MODY and fifteen non- MODY genes according to criteria developed by American College of Medical Genetics. Thirty novel mutations were found. GCK (26.6%) and ABCC8 (10%) were two most frequently affected genes. Antibody testing revealed negative results in 80% of cases. Conclusions. Genetic interpretation in selected cases is important to understand the nature of the disease better. Improvement in testing opportunity and awareness might increase the prevalence of genetically explained diabetes cases. The distribution of subtypes differs between countries and even regions of the same country.