[Olfactory function and olfactory bulbs in patients with Kallmann syndrome].

BACKGROUND: The majority of Kallmann patients have anosmia or hyposmia. This is how the disease is diagnosed. Some of them don't have such complaints but olfactory dysfunction is diagnosed via olfactometry. Nowadays there is the lack of information about correlation between olfactometry results and subjective complaints. Correlation between olfactory bulbs size and olfactory dysfunction has been little studied. AIM: To explore olfactory bulb size and olfactory function in patients with congenital isolated hypogonadotropic hypogonadism. To correlate olfactory bulb sizes and smell test scores. MATERIALS AND METHODS: Single-centre comparative study. 34 patients were included. The main group consisted of 19 patients with hypogonadotropic (15 -with Kallmann syndrome, 4 - with normosmic hypogonadism). Olfactory bulbs MRI were provided to all the patients, olfactory test (Sniffin' Sticks Test) and molecular-genetic studies were provided in all patients with hypogonadism. Control group consisted of 15 patients who were provided with orbits MRI. Olfactory bulbs were evaluated additionally in them. RESULTS: Normal size of olfactory bulbs were only in 1 patient with hypogonadism. Olfactory bulbs height and width were significantly smaller in patients with hypogonadism in comparison with control group (p<0.01). Height median of right bulb was 1.0 mm [0.2; 1.8] in patients from the main group vs. 3.0 [2.5; 3.2] in controls, width median of right bulb was 1.0 mm [0.2; 1.9] in patients from the main group vs. 2.5 [2.0; 3.0] in controls. Height median of left bulb was 0.8 mm [0.0; 1.2] in patients from the main group vs. 3.0 [2.7; 3.2] in controls, width median of left bulb was 0.8 mm [0.0; 1.2] in patients from the main group vs. 2.5 [2.0; 3.0] in controls. Correlation has been established between left bulb height (r=0.59) and width (r=0.67) and olfactometry results (p<0.05). 4 patients had no anosmia complaints but had olfactory dysfunction according to Sniffin' Sticks Tests. CONCLUSION: Olfactometry was able to diagnose olfactory dysfunction in 78.5% (i.e. in 15 out of 19 patients with congenital isolated hypogonadotropic hypogonadism. However, anosmia complaints had only 11 out of 19 patients. It is the first results of olfactory bulb sizes in patients with hypogonadotropic hypogonadism in Russia. Uni - or bilateral hypoor aplasia were diagnosed in 94.7% patients with hypogonadism regardless of olfactory dysfunction. Bilateral olfactory bulbs hypoplasia were the most common MRI-finding (36.8%). Unilateral hypoor aplasia was diagnosed in 31.6% patients.

[Donohue syndrome and use of continuous subcutaneous IGF1 pump therapy].

Donohue syndrome (DS), also called Leprechaunism, is the most severe form of insulin resistance associated with biallelic mutations in INSR gene (OMIM: 147670). The approximate incidence of this syndrome is 1 per 1000000 births. Patients are present with typical clinical features such as intrauterine growth retardation, facial dysmorphism, severe metabolic disturbances, hepatomegaly and hypertrophic cardiomyopathy. Most DS patients die within the first two years of life due to respiratory infections, severe hypoglycemia or progressive cardiomyopathy. Treatment options are limited and no specific therapy exist for DS. Given the similarities between insulin and insulin-like growth factor 1 (IGF-1) receptors, recombinant human IGF-1 (rhIGF-1) has been used to treat severe insulin resistance including DS.We report the case of a male patient with genetically confirmed Donohue syndrome, successfully treated with continuous subcutaneous IGF1 infusion via insulin pump. We observed improvement of glycemic control, liver function and cardiac hypertrophy regression following 15-month IGF1 therapy.

[Definitive treatment of Graves' disease in children].

BACKGROUND: Hyperthyreoidism due to Graves' disease is a rare disorder in pediatric practice. There is 2 treatment options in Graves' disease: medical treatment and definitive treatment, including surgery and radioactive iodine. Each method has its advantages and disadvantages. If medical therapy is ineffective the choice between radical treatment method is raised: radioactive iodine or total thyroidectomy. In this research we analyze treatment outcomes in pediatric Graves' disease patients after different radical treatment methods. AIM: Comparative analysis of radical treatment outcomes in pediatric patients with Graves' disease. MATERIALS AND METHODS: Retrospective and prospective one-center research of 122 patients with Graves' disease after radical treatment (between 2016 and 2021)RESULTS: The mean age was 13.5±3,5 year at the moment of examination. Patients were divided into 2 groups due to the radical treatments method: 1 group (n=60) were children after surgical treatment, 2 group (n=62) - after radioactive iodine. The mean dose of medical treatment in these groups did not reliably differ (p=0,06), duration of the medical treatment was reliably longer in patients after radioactive iodine (p=0,024). Graves' orbitopathy was diagnosed in 58 patients (47,5%) and met equally often in both groups, but active stage of Graves' orbitopathy was diagnosed only in patients from the 1st group. Thyroid size was reliable bigger in patients from the 1st group (p=0,004), and thyroid gland nodes were diagnosed only in patients from 1st group (p=0,0007). CONCLUSION: RI can be considered an effective and safe treatment for GD. The effectiveness of RI depends on the volume of the thyroid gland; according to the results of the constructed ROC curve, the risk of repeated RI is higher with a volume of more than 55 cm3. Also radioactive iodine is undesirable if there is signs of ophatalmopathy due to its possible deterioration. According to the results of the study hypoparathyroidism after surgical treatment was diagnosed in 20%, recurrent laryngeal nerve injury was diagnosed after surgical treatment in 5% of patients. In patients with identified nodular goiter according to the results of ultrasound, surgical treatment is preferable due to the impossibility of excluding thyroid cancer.

[Nodular toxic goiter in children: clinical features, morphological variants].

BACKGROUND: Toxic nodular goiter (TNG) is a rare disease in which the cause of hyperthyroidism is the presence of a node or nodes that autonomously secrete thyroid hormones. With children and adolescents this condition is extremely rare - in 5-7.5% of all cases of nodular goiter. Therapy of toxic nodular goiter is aimed at relieving the symptoms of hyperthyroidism taking into account the malignant potential of the nodular formation. In the available literature, there are no data on the clinical course, comparative results of cytological and histological data in patients with toxic nodular goiter, which debuted in their childhood. AIM: Analysis of the features of the clinical course, comparison of the results of cytological and histological studies of toxic nodular goiter in children and adolescents. MATERIALS AND METHODS: A retrospective, single-center study of 21 patients with single-nodular toxic goiter, hospitalized at the Endocrinology Research Centre in the period from January 2016 to December 2019. RESULTS: The mean age at the time of the survey was 13.9 years. Thirteen patients (65%) had manifest thyrotoxicosis, and seven (35%) had subclinical hyperthyroidism. More than half of children - 57.1% (n = 12) did not receive thyreostatic therapy. The cytological picture in 11 patients (61.1%) corresponded to benign changes (nodular colloid goiter or adenomatous goiter) - Bethesda II, in 4 patients - follicular tumor - Bethesda IV, in 4 children the study was not informative. 19 patients (90.5%) underwent surgical treatment (hemithyroidectomy). According to the results of histological examination, follicular adenoma was found in 44.4% of children with nodular toxic goiter with benign results of TAB (Bethesda II) and was found in 50% with revealing follicular neoplasia (Bethesda IV). CONCLUSION: For the first time in the Russian Federation was carried out a comparative analysis of the characteristics of cytological and histological studies in children with toxic nodular goiter. It is significant that only in 10.5% (n=2) cytological and morphological results were consistent. The choice of radical treatment tactics should take into account the high frequency of mismatches between histological and morphological studies.