Endocrine Abstracts

Mutations in HNF1A gene underlie the development of maturity onset diabetes of the young type 3 (MODY3). Mutations in ABCC8 gene are the cause of neonatal DM and the rare MODY12, which is clinically similar to MODY3. In these forms of MODY, there is a high sensitivity to sulfonylurea, but over time, patients may need insulin therapy.Patient A, 17 y.o. He was born to woman with gestational DM. At the age of 12.5, fasting hyperglycemia of ...

Mutations in HNF1A gene underlie the development of maturity onset diabetes of the young type 3 (MODY3). Mutations in ABCC8 gene are the cause of neonatal DM and the rare MODY12, which is clinically similar to MODY3. In these forms of MODY, there is a high sensitivity to sulfonylurea, but over time, patients may need insulin therapy.Patient A, 17 y.o. He was born to woman with gestational DM. At the age of 12.5, fasting hyperglycemia of ...

Background: Nowadays, single nucleotide polymorphisms in genes KISS1, KISS1R, MKRN3, DLK1 have been described as the leading cause of precocious hypothalamic-pituitary axis activation in children. Genetic testing in patients with hereditary forms of precocious puberty (PP) can expand our knowledge in underlying molecular mechanisms of the disease. The diagnosis of genetic bases is necessary for genetic counselling.Aim: To access clinical charact...

BackgroundIt is known that the thyroid gland is sensitive to the damaging effects of irradiation, and patients who have received radiotherapy for tumor treatment require regular thyroid screening subsequently. A few cases of thyroid cancer after receiving 131I-metaiodobenzylguanidine (MIBG) therapy in the treatment of neuroblastoma in childhood have been described (HM van Santen et al 2012; SC Clement et al, 2013). Here, we report the two cases of papill...

Introduction: Pseudohypoparathyroidism (PHP) is a group of heterogeneous disorders causing parathyroid hormone (PTH) resistance. The features could include Albright’s hereditary osteodystrophy phenotype (AHO) [brachydactyly, short stature, obesity, round face, ectopic ossifications, intellectual disability]. The condition is rare with an estimated prevalence of 0.34-1.1 in 100,000 and the clinical presentation can be variable. Herein, we present 8 patients with PHP from t...

Transient neonatal diabetes mellitus (TNDM) occurs in 50-60% of all cases of neonatal diabetes mellitus (NDM). The most common cause of TNDM (70%) is almost invariably associated with defect in chromosome 6 and mutations in the KCNJ11, ABCC8, INS, NHF1B etc. genes. TNDM is caused by mutations in the GATA6 gene in rare cases. This gene encodes a transcription factor that is important for the development of the hematopoietic, cardiac and gastrointestinal systems.<p ...

Coexistence of different types of brain tumors is a very rare condition. We present a clinical case of PRL-secreting adenoma and germ cell tumor coexistence in 14-year-old adolescent. The patient was admitted to our Center with complaints of headache with nausea episodes, left-sided ptosis. Visual acuity was: visus OD=1.0; visus OS=0.6 Cyl -0.5 ax 70=1.0. Neuroimaging revealed supra-para(D,S) sellar mass 39×32×21 mm. Laboratory data revealed hypothyroidism, hypocorti...

Introduction: The oxidative stress is supposed to be key factor in multiple diseases.The aim of the study was to examine the effects of excessive GH secretion on the blood antioxidant system: total antioxidant capacity (TAC) of plasma; superoxide dismutase (SOD) and catalase activities (CAT); ceruloplasmin (CP); non-protein thiol (NT), and level of thiobarbituric acid reactive substances (TBARS).Materials: Eleven patients with acti...

Hypercortisolism due to Cushing disease is an extremely rare condition in children under one year of age. We present a case of a 10-month-old boy with lung cystic dysplasia and pituitary blastoma (ACTH-secreting). The disease manifested with symptoms of hydrothorax due to cystic dysplasia of the right lung’s upper lobe. Surgical resection of the affected area has been carried out. Symptoms of endogenous hypercortisolism appeared soon after lung surgery. Cushing disease du...