IMPE Abstracts

Background: Congenital adrenal hyperplasia (CAH) is due to defects of steroid synthetic enzymes, which includes microsomal and mitochondrial P450s. P450 enzymes need coenzymes respectively. Microsomal P450s include 21-hydroxylase need P450 oxidoreductase which coded by POR. 21-hydroxylase deficiency (21-OHD), in which CYP21A2 is mutated or deleted, is the most common cause of CAH and results in underproduction of glucocorticoids and mineralocorticoids, and ove...

Nuclear receptor subfamily 5 group A member 1 (NR5A1), is a member of the nuclear receptor family. It plays a crucial role in transcriptional regulation of genes involved in steroidogenesis, gonadal development and reproduction. NR5A1 mutations represent one of the most frequent defects associated with 46,XY gonadal dysgenesis, associated with a wide phenotypic spectrum of DSD. Some patients with mutations in the NR5A1 may have normal testosterone le...

Introduction: The genetic polymorphisms in CYP21A2, the responsible gene of 21-hydroxylase deficiency (21OHD), are mostly generated by intragenic recombination with the adjacently located pseudogene, CYP21A1P, which shares 98% homologous sequences with CYP21A2. Gene conversion of the CYP21A2 region cannot be identified by usual PCR and Sanger sequencing, because of complicated cross-contamination of CYP21A1P. Next-g...

Background: Catecholamines and its O-methylated metabolites in urine are useful biomarkers for diagnosis of Pheochromocytoma and Paraganglioma (PPGL). Recently, liquid chromatography coupled to tandem mass spectrometry (UHPLC-MSMS) has become the technique that allows the development of analytical methodologies for the specific, precise, and simultaneous determination of different analytes.Objective: To develop and valid...

Mitotane (o, P'–DDD) is the drug of choice for adrenocortical carcinomas (ACC) and its measurement in plasma is essential to control drug administration.Objective: To develop and validate a simple, reliable and straightforward method for Mitotane determination in plasma samples.Method: Drug free plasma samples were collected in potassium-ethylenediamine tetraacetate (K-EDTA) tub...

Background: Cortisol level in human follows circadian rhythm. In surveillance for potential cortisol deficiency in at risk population, for instance, in cancer survivors who received cranial irradiation, the screening will be checking 8am morning cortisol. Often, it is too early for patients to attend the clinic for blood sampling, especially for those living far away. This study aims to delineate the correlation of dried blood spot cortisol with plasma cortiso...

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...