IMPE Abstracts

Introduction: Measuring peak plasma cortisol after pharmacological stimulation induced by insulin tolerance test (ITT) and glucagon (GST) is often necessary to confirm or rule out the diagnosis of Central Adrenal Insufficiency (CAI). However, cortisol concentration cutoffs are still controversial, and these tests may result in adverse effects.Objectives: In patients who underwent ITT and glucagon test, to evaluate: the c...

Adrenal hypoplasia congenita due to NR0B1 pathogenic variations accounts for more than 50% of children with primary adrenal insufficiency. Although more than 230 different deleterious variations have already been described, no genotype-phenotype correlation had been defined so far. Frequently, clinical manifestations include salt-losing adrenal failure, in association with hypogonadotropic hypogonadism (HH) at puberty and infertility at adulthood. We report a case of an adopte...

Introduction: Most children and adolescents with adrenocortical tumor (ACT) present increased height age, advanced bone age and compromised predicted adult height at the time of diagnosis. Growth pattern after tumor resection and adult height data are scarce in the literature. We present a cohort of 63 completed growth patients followed in a single center of Southern Brazil.Methods: Retrospective evaluation of patients t...

Background: Non-classic forms of Congenital Adrenal hyperplasia (NCCAH) due to 21-hydroxylase deficiency are usually associated with variable degrees of postnatal androgen excess but adequate cortisol and aldosterone production. However, few studies have evaluated cortisol response.Aim: to describe the clinical, biochemical characteristics, and cortisol response to Corticotropin test in a cohort of patients with NCCAH st...

Introduction: Phaeochromocytomas and paragangliomas (PPGLs)are rare neuroendocrine tumors. The number of genetically determined PPGLs with specific variants rises to approximately 70%. The genetic status of patients with PPGLs is key for precision diagnosis, treatment and surveillance of affected patients and their families. Pathogenic gain-of-function variants in EPAS1gene, mainly as germline mosaicism or somatic mutations, cause its activation and l...

Testicular adrenal rest tumors (TARTs) are one of the most frequent comorbidities in Congenital Adrenal Hyperplasia (CAH) males resulting in infertility and hypergonadotropic hypogonadism; however, different prevalence rates have been reported and the predisposing factors are not known. Objective: To assess the TARTs prevalence in a pediatric CAH cohort, followed in a same center since diagnosis, and to identify the predictor factors. Patients and methods: data of 29 CAH patie...

Background: Non-classical congenital adrenal hyperplasia (NC-CAH) by variants in the CYP21A2 gene, cause a deficiency in the enzyme 21α-Hydroxylase and accumulation of precursors proximal to the blockage (progesterone and 17-hydroxyprogesterone- 17OHP), and androgen production. 17-OHP levels below 2ng/dl rule out the alteration, while levels above 10ng/dl confirm the diagnosis. Levels between 2-10 ng/dl require ACTH stimulation testing. However,...

Introduction: Klippel-Trenaunay syndrome is a rare disease, characterized by capillary malformations, vascular anomalies and hypertrophy of bony and soft tissues. In this disease adrenal pseudocyst and rarely Cushing syndrome due to bilateral adrenal gland adenomas had been described.Objective: To report findings in adrenal gland in a patient with Klippel-Trenaunay syndromeCase Report:</str...

Introduction: Paragangliomas (PGLs) are uncommon neuroendocrine tumors. These tumors can originate from either the sympathetic or parasympathetic paraganglia. Cardiac PGLs (CPGLs) are extremely rare, as thoracic localization represents less than 2% of PGLs. There are few reported cases in pediatric age. The most frequent cause of inherited phaeochromocytomas/paragangliomas are germline pathogenic variants in Succinate Dehydrogenase Subunit B, C and D genes (SD...

Objective: To investigate the associations between physical and pubertal development based on the breast development outcomes in girls.Methods: This was a retrospective study. A total of 452 girls aged 6~8 years were included. Based on their breast development outcomes, the patients were divided into an idiopathic central precocious puberty (ICPP) group and a premature thelarche (PT) group. Anthropometry included measure...