A5018903746- Sexual Differentiation and Disorders
- Pancreatic function and diabetes
- Metabolism, Diabetes, and Cancer
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Thyroid Disorders and Treatments
- Sperm and Testicular Function
- Endoplasmic Reticulum Stress and Disease
- Genomics and Chromatin Dynamics
- Neuroblastoma Research and Treatments
- Diabetes and associated disorders
- Neuroendocrine Tumor Research Advances
- Metalloenzymes and iron-sulfur proteins
- Hyperglycemia and glycemic control in critically ill and hospitalized patients
- RNA regulation and disease
- Pancreatic and Hepatic Oncology Research
- Metabolism and Genetic Disorders
- Cancer, Hypoxia, and Metabolism
- Peroxisome Proliferator-Activated Receptors
Universidade Estadual de Campinas (UNICAMP)
2010-2024
Hospital de Clínicas da Unicamp
2024
The aim of this study was to investigate the frequency gonadal tumors among patients with Turner syndrome (TS) carrying Y-derivative sequences in their chromosomal constitution.Six out 260 TS were selected based on mosaicism entire Y chromosome; 10 included because have been detected by PCR specific oligonucleotides (sex-determining region Y, testis specific-protein, and DYZ3) further confirmed FISH. 16 subjected bilateral gonadectomy at ages varying from 8.7 18.2 years. Both...
Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant hereditary cancer syndrome characterized mostly by parathyroid, enteropancreatic, and anterior pituitary tumors. We present a case of 8-year-old boy referred because hypoglycemic attacks. His diagnosis was pancreatic insulinoma. Paternal grandmother died due to repeated gastroduodenal ulcerations paternal aunt presented similar manifestations. At first evaluation, the father only gastric ulceration but subsequently developed...
Permanent neonatal diabetes mellitus (PNDM) is a rare disorder, characterized by uncontrolled hyperglycemia diagnosed during the first 6 months of life. In general, PNDM has genetic origin and most frequently it results from heterozygous mutations in KCNJ11, INS ABCC8 genes. Homozygous or compound inactivating GCK gene as cause are rare. contrast, heterozygosis for frequent maturity-onset young (MODY), manifested mild fasting usually detected later Therefore, an autosomal recessive GCK-PNDM...
Considering the rarity and clinical molecular diversity of Wolfram syndrome (WS), objective this study was to identify patients with a presentation suggestive WS following up at single Brazilian diabetes service analyze their characteristics. The included all between 1991 2022 early-onset mellitus other signs symptoms. A retrospective analysis conducted, including patients' age, sex, consanguinity, age symptom onset, diagnosis mellitus, optic atrophy, insipidus, neurological psychiatric...
X-linked adrenoleukodystrophy (X-ALD) is an inherited disease with clinical heterogeneity varying from presymptomatic individuals to rapidly progressive cerebral ALD forms. This characterized by increased concentration of very long chain fatty acids (VLCFAs) in plasma and adrenal, testicular nervous tissues. Affected can be classified different settings, according phenotypic expression age at onset initial symptoms. Molecular defects X-ALD usually result ABCD1 gene mutations. In the present...
The syndrome of resistance to thyroid hormone (RTH β) is an inherited disorder characterized by variable tissue hyposensitivity 3,5,30-<sc>l</sc>-triiodothyronine (T<sub>3</sub>), with persistent elevation free-circulating T<sub>3</sub> (FT<sub>3</sub>) and free thyroxine (FT<sub>4</sub>) levels in association nonsuppressed serum thyrotropin (TSH). Clinical presentation the molecular analysis <i>THRB</i> gene provides a short cut diagnosis. Here, we describe 2 cases which RTH β was suspected...
Adrenal hypoplasia congenita, attributed to NR0B1 pathogenic variants, accounts for more than 50% of the incidence primary adrenal insufficiency in children. Although 250 different deleterious variations have been described, no genotype-phenotype correlation has defined date. We report a case an adopted boy who reported onset crisis at 2 weeks age, requiring replacement therapy with mineralocorticoids and glucocorticoids 4 months. For 3 years, he did well without treatment. At almost years...