It is reported in this study the clinical, laboratory and genetic aspects of short stature investigation with emphasis to the diagnostic approach of growth hormone insensitivity (GHI). This patient in case presented typical clinical features of GHI and his laboratory findings at prepubertal age were typical of those observed in GHI patients (low IGF-1 and IGFBP-3 levels, with high basal and stimulated GH levels). However, during the puberty, he presented normal IGFBP-3 and IGF-1 levels that hindered the diagnosis. The […]

Primary aldosteronism (PA) represents an important cause of secondary hypertension, potentially curable, and it has been receiving particular attention due to its increasing prevalence, after the beginning of the use of plasma aldosterone concentration to plasma renin activity ratio as a screening method. We present a case of PA caused by an aldosteronoma associated with a contralateral nonfunctioning adrenal adenoma, which resulted in difficulties in the final diagnosis. We discuss the most appropriated tests to screen, confirm the diagnosis of […]

The aim of this article is to present and discuss several aspects of the pathogenesis, the clinical, hormonal, and imaging diagnosis, and the treatment of Nelson’s syndrome, based on a typical patient’s report, in whom several therapeutic approaches were shown to be ineffective.

Hirsutism is one of the manifestations of the hyperandrogenic syndromes. A practical approach consists of dividing the hyperandrogenic syndromes into virilizing and non-virilizing, in accordance to the presence or absence of virilization symptoms. A case of a patient with hirsutism and a high basal and post-ACTH stimulation concentration of 17-OHP is presented. The absence of virilization and of clinical history discarded as etiology the virilizing neoplasias and hiperthecose of the ovary. Among the causes of non-virilizing syndromes, the presence of […]

Carney complex (CNC) is a familial multiple neoplasia syndrome associated with abnormal skin and mucosal pigmentation, primary pigmented nodular adrenocortical disease (PPNAD), cardiac and cutaneous myxomas, GH and PRL pituitary adenoma, testicular tumors, thyroid adenoma or carcinoma and ovarian cysts. CNC is inherited as an autosomal dominant trait and has some clinical similarities to McCune-Albright syndrome. Recently, genes related to stimulation of the cAMP signaling pathway have been considered candidates for causing CNC. We report a 17-yr-old man with PPNAD, […]

Post-prandial hyperglycemia (PPH) is mainly attributed to a reduced first phase insulin secretion and lesser to insulin resistance. Although a marker of post-prandial glycemia (PPG), 2-hour post glucose load glycemic level (2hG) has low reproducibility. PPH is an important cardiovascular (CV) risk factor, particularly in DM in which CV diseases are the main cause of death. In non-diabetics, fasting and/or 2hG increase such risk, which occurs in a continuum within the normal range (dysglycemia). Atherosclerotic lesions are more pronounced in […]

Diagnosis of the nonclassical form of 21-hydroxylase deficiency (NC-21OH) is based on clinical hyperandrogenism and basal 17-hydroxyprogesterone (17OHP) levels >5ng/mL or >10ng/mL after ACTH-stimulation. We present two children with precocious pubarche and a hormonal diagnosis of NC-21OH, whose molecular study of the CYP21A2 gene confirmed the diagnosis in just one case. After that, we re-evaluated the diagnosis of 58 patients with ACTH-stimulated 17OHP levels >10ng/mL with molecular studies of CYP21A2 gene. Only 37 (67%) of these patients had mutations detected […]

Although the association between diabetes mellitus (DM) and pancreatic carcinoma (PC) is well established, the nature of this relationship still remains unknown. Two relevant questions exist: 1) Is DM a consequence of PC? 2) Is DM a previous condition and a risk factor for PC? Two patients with pancreatic ductal carcinoma (PDC) and DM are presented. In one, hyperglicemia occurred simultaneously to the development of the tumor and in the other, DM preceded the neoplasia for several years. The relation […]

A ocorrência de hipoglicemia associada a hipopituitarismo é evento raro em pacientes adultos e um pouco mais freqüente em crianças portadoras de disfunção pituitária semelhante. Nos pacientes portadores de insuficiência adrenal, a hipoglicemia é mais prevalente naqueles cuja deficiência de cortisol é secundária à deficiência de ACTH do que naqueles com doença adrenal primária. Isto se deve, provavelmente, ao fato de que, na primeira condição, existem deficiências simultâneas de GH e cortisol. Entretanto, hipoglicemia pode ocorrer nos casos com deficiência […]

O objetivo dessa apresentação é discutir a Síndrome de Cushing secundária  hiperplasia macronodular primária das adrenais. Inicialmente, será apresentado um caso clínico e, em seguida, serão discutidos a apresentação clínica, laboratorial, radiológica e histológica, e os possíveis mecanismos patogenéticos envolvidos no desenvolvimento dessa patologia.

Esta apresentação tem o objetivo de discutir o tema “hiperaldosteronismo primário” (HAP). Inicialmente, serão apresentados os dados clínicos, laboratoriais, radiológicos e o resultado do estudo anátomo-patológico do tumor de uma paciente portadora de “aldosteronoma”, seguindo-se uma discussão centrada em três pontos principais: 1) a investigação de HAP em pacientes com hipertensão arterial; 2) o diagnóstico etiológico do HAP; e 3) o tratamento das várias formas de apresentação do HAP.

O objetivo dessa apresentação é discutir as dificuldades na avaliação de valores elevados de prolactina (PRL) e as razões pelas quais uma interpretação errônea do resultado desse hormônio pode confundir o diagnóstico de pacientes com imagem selar sugestiva ou conclusiva de processo expansivo. Adicionalmente, serão discutidas as condutas que devem ser adotadas nos casos de incidentaloma hipofisário.