ACTA ENDOCRINOLOGICA (BUC)

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. Cholelithiasis in childhood is uncommon, while in infancy it is rarely reported. An extremely rare form of cholelithiasis occurs with pseudohypoaldosteronism (PHA). In these patients gallstone formation has been attributed to dehydration and salt-wasting, starting from fetal life. Case report. A neonate with PHA presented with dystrophy, vomiting, hyponatraemia, hyperkalaemia, metabolic acidosis and gallstone formation. Plasma renin activity and aldosterone concentrations were elevated and urinary Na excretion was increased. Gallstones automatically subsided at the age of six months after appropriate sodium chloride supplementation. Conclusions. Infants with PHA , even without signs of salt wasting, should be investigated for cholelithiasis. Inversely, in infants with pertinent electrolyte abnormalities and cholelithiasis, PHA should be considered among the possible diagnoses.

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.

Context. This is a case of gonadotropinoma presented with Rathke's cleft cyst.\r\nObjective. We are presenting a case of gonadotropinoma along with Rathke's cleft cyst which is unique case as being male and symptomatic gonadotropin releasing adenoma.\r\nMethod. A 51 year old man was referred to our institution for evaluation of impotence and loss of libido. His endocrine screening evaluations revealed hypopituitarism with low levels of blood cortisol and ACTH, and high levels of prolactin.\r\nResults. An endonasal transsphenoidal endoscopic approach was performed and upon inspection via endoscope the floor of sella was eroded and following dural incision soft dark\r\ncolored tumor overflowed through sella. Pathology revealed gonadotropinoma with unexpected remnants of Rathke's cleft cyst.\r\nConclusion. Pituitary adenomas and Rathke's cleft cysts have a common embryologic ancestry. Our case was a symptomatic gonadotropinoma consisting of multicystic\r\ncomponent which was then demonstrated as Rathke's cleft cyst in pathological work up.\r\nThis combination may be the result of a coincidence or Rathke's cleft cysts may be the\r\norigin of the pituitary adenomas.

Context. Red cell distribution width (RDW) has been associated with type 2 diabetes (T2DM), however data in relation to diabetic ketoacidosis (DKA) and hyperglycemic hyperosmolar non-ketotic acidosis (HONK) remains unclear. Objective. The aim of this study was to evaluate the association between RDW, MCV, and RDW/MVC values and acute complications in T2DM. Patients and Methods. RDW was measured in 90 T2DM patients (30 DKA, 30 HONK and 30 T2DM without acute complications). Clinical variables were analyzed by One –Way ANOVA, Kruskal-Wallis and Pearson analysis with SPSS software. Diagnostic screening tests and ROC curve analysis determined the cut-off point of MCV,RDW and RDW/MCV values. Results. DKA patients had higher levels of plasma glucose (524.20±201.43mg/dL, p<0.001), HbA1c (10.73±2.29%, p<0.001), osmotic pressure (310.32 mosm/L, p<0.001), RDW (14.61±1.75g/L, p<0.01), and the RDW/MCV ratio (0.17±0.04%, p<0.01), compared to HONK patients. RDW/MCV cut-off value was 0.15 with 90% sensitivity 50% specifity these values for only MCV were 76.67%-70%, for only RDW were 76.67%- 63.33% respectively. The area under curve values for the ability to reflect DKA for RDW and the RDW/MCV ratio were 0.708 and 0.766, respectively (p<0.001). Conclusions. RDW and RDW/MCV ratio were found associated with DKA and valuable in predicting DKA. However these parameters were not valuable in predicting HONK.

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Objective. The non-effectiveness of levothyroxine administration in hypothyroidism depends on many factors and mechanisms influencing its absorption in small intestins or bounding of circulating hormone with different active molecules. Methods. Thyroid hormones, TSH, rT3, TGl, TPOAb, TG-Ab, were measured using commercially available assays. For anti-T4ab, radioiodine-labeled T4 was added to the patient’s serum and the IgG fraction subsequently precipitated by addition of 15% polyethylene glycol. Background was determined by testing 100 control sera from individuals without autoimmune thyroid disease. Results. A 42-year old woman (71.5 kg) with Hashimoto thyroiditis receiving levothyroxine (L-T4) 150 μg and liothyronine (L-T3) 37.5 μg was admitted to the hospital with clinical data of hypothyroidism, TSH-23.8 mU/L, FT4- 6.18 pmol/L (n.range 9-19 pmol/L), TPO-Ab 696 IU/mL, TGAb 818 IU/mL, circulating T4- antibodies positive. She has a good adherence to medication, malabsorption or administration of other drugs were excluded. L-T4 absorption test revealed 44% increase of serum FT4 at 120 min after ingestion of 150 mcg L-T4 (2.1 mcg/kg). Methylprednisolone pulses of 500 mg i.v. administered in three consecutive days at equal doses of L-T4/L-T3 resulted in a rapid increase of FT4 to 14.5 pmol/L, fall of TSH to 0.18 mU/L and decrease of anti-T4 antibodies to referent range; TPO-Ab and TG-Ab also decreased significantly. Monotherapy by 150 mcg L-T4 was continued in the next three months. A recurrence of hypothyroidism with increase of circulating T4-Ab was observed 100 days later. New administrations of methylprednisolone two pulses of 500 mg revealed a similar normalization of thyroid hormones and anti-T4 antibodies. Conclusion. The data showed that T4-antibodies might be a cause of insufficient effects of levothyroxine therapy in autoimmune hypothyroidism. This could be overcome by glucocorticoid administration probably resulting in FT4 release from circulating immune complexes.