Abstract：
:Congenital hypogonadotropic hypogonadism (CHH) is a rare disease characterized by delayed/absent puberty and infertility due to an inadequate secretion or action of gonadotrophin-releasing hormone (GnRH), with an otherwise structurally and functionally normal hypothalamic-pituitary-gonadal (HPG) axis. CHH is genetically heterogeneous but, due to the infertility of affected individuals, most frequently emerges in a sporadic form, though numerous familial cases have also been registered. In around 50-60% of cases, CHH is associated with a variety of non-reproductive abnormalities, most commonly anosmia/hyposmia, which defines Kallmann Syndrome (KS) by its presence. Broadly-speaking, genetic defects that directly impact on hypothalamic secretion, regulation, or action of GnRH result in a pure neuroendocrine phenotype, normosmic CHH (nCHH), whereas genetic defects that impact of embryonic migration of GnRH neurons to the hypothalamus most commonly result in KS, though nCHH can also arise. Hence, the description of several pedigrees, comprising subjects exhibiting KS and others with nCHH. Although more than 24 genes have been described to be involved in CHH, molecular variants of these do not presently explain more than 35-45% of reported cases. Therefore, numerous other unidentified genes (or conceivably, epigenetic mechanisms) remain to be described to fully understand the pathogenesis of CHH, explaining the emergent idea that CHH is a complex genetic disease characterized by variable expressivity and penetrance. This review summarizes the current state of knowledge on the complex genetic basis of congenital hypogonadotropic hypogonadism and aims to be accessible to both researchers and clinicians.
journal_name
Minerva Endocrinoljournal_title
Minerva endocrinologicaauthors
Vezzoli V,Duminuco P,Bassi I,Guizzardi F,Persani L,Bonomi Msubject
Has Abstractpub_date
2016-06-01 00:00:00pages
223-39issue
2eissn
0391-1977issn
1827-1634pii
R07Y9999N00A16030202journal_volume
41pub_type
杂志文章,评审abstract：AIM:An association between Glucagon-Like Peptide-1 Receptor Agonists (GLP1-RA) and risk of pancreatitis and pancreatic cancer has been suggested. Since its first description, several new trials (including three cardiovascular outcome trials) have been published, substantially increasing the available data set. This sug...
journal_title：Minerva endocrinologica
pub_type： 杂志文章
doi：10.23736/S0391-1977.20.03219-8
更新日期：2020-07-23 00:00:00
abstract：:Bone mineral content (CMO, mg/cm2) was measured at the distal radius by dual photon absorptiometry (DPA, I125, Am241) in 1.161 women (w), aged 20-87 years. Women were subdivided into different groups according to the presence and duration of menopause. For gross evaluation of spinal osteoporosis (OP), the results of s...
journal_title：Minerva endocrinologica
pub_type： 杂志文章
doi：
更新日期：1991-04-01 00:00:00
abstract：:Central adrenal insufficiency (AI) represents a life-threatening disorder that results from a reduced cortisol production due to an impairment production of adrenocorticotropic hormone (ACTH). In particular, secondary AI results from pituitary disease that impedes the release of ACTH, while tertiary AI is caused from ...
journal_title：Minerva endocrinologica
pub_type： 杂志文章,评审
doi：10.23736/S0391-1977.17.02701-8
更新日期：2018-06-01 00:00:00
abstract：:The present paper reports our personal data on gonadotropin therapy in patients with idiopathic secretory oligozoospermia due to a low biological activity of LH. In recent years the use of more specific diagnostic procedures, particularly the biological assay of gonadotropins, and a better knowledge of the biological ...
journal_title：Minerva endocrinologica
pub_type： 杂志文章,评审
doi：
更新日期：1990-01-01 00:00:00
abstract：UNLABELLED:Anaplastic thyroid cancer (ATC) is a rare aggressive tumor arising from the follicular cells of the thyroid gland (as does well differentiated thyroid cancer, WDTC), but ATC cells do not retain any of the biological features of the original follicular cells, such as uptake of iodine and synthesis of thyroglo...
journal_title：Minerva endocrinologica
pub_type： 杂志文章,评审
doi：
更新日期：2008-12-01 00:00:00
abstract：:The presence of islet cell autoantibodies (ICA), and especially of glutamic acid decarboxylase autoantibodies (GAD65Ab), in patients with non-insulin-dependent diabetes mellitus identifies the so-called latent autoimmune diabetes in the adult (LADA). LADA patients have an increased risk for developing insulin deficien...
journal_title：Minerva endocrinologica
pub_type： 杂志文章,评审
doi：
更新日期：2003-12-01 00:00:00
abstract：:Non-alcoholic fatty liver disease (NAFLD) is the most common liver disease in the developed world and its pathogenesis is complex and multifactorial. It is considered the hepatic manifestation of the metabolic syndrome and is the leading cause of hepatic cirrhosis. This review aims to present current knowledge on the ...
journal_title：Minerva endocrinologica
pub_type： 杂志文章,评审
doi：10.23736/S0391-1977.16.02583-9
更新日期：2017-06-01 00:00:00
abstract：:Recent trials have reported sodium-glucose co-transporter 2 (SGLT2) inhibitors to decrease cardiac morbidity and hospitalization in diabetic patients. They have a remarkable ability to modify the cardio-renal axis and have a safer metabolic profile among the existing pharmacotherapy in diabetes. There are multiple pro...
journal_title：Minerva endocrinologica
pub_type： 杂志文章
doi：10.23736/S0391-1977.20.03221-6
更新日期：2020-12-17 00:00:00
abstract：:The coexistence of Graves' disease and insulin-dependent diabetes mellitus is well known among autoimmune polyglandular syndromes and sustained by common underlying immune pathogenic factors. Hyperthyroidism itself may lead to impaired glucose tolerance in subjects with intact beta-cell function through various not we...
journal_title：Minerva endocrinologica
pub_type： 杂志文章
doi：
更新日期：1992-04-01 00:00:00
abstract：:Multiple endocrine neoplasia type 1 (MEN1; formerly known as Wermer syndrome) is a rare disorder characterized by the combined occurrence of two or more tumors involving parathyroid, pancreatic islets and anterior pituitary glands; some other tumors have also been described. In most cases it is inherited in an autosom...
journal_title：Minerva endocrinologica
pub_type： 杂志文章,评审
doi：
更新日期：2013-03-01 00:00:00
abstract：:Notwithstanding recent neuroendocrinological and neuroradiological findings, about 40% of carriers of pituitary adenoma still reach clinical observation and, consequently, the surgeon, in the stage of suffering from extrasellar extension to a varying degree, especially when the volumetric growth of the lesion is not a...
journal_title：Minerva endocrinologica
pub_type： 杂志文章
doi：
更新日期：2006-09-01 00:00:00
abstract：BACKGROUND:The aim of this study was to compare the diagnostic accuracy of fine needle biopsy (FNB) and intraoperative frozen-section biopsy (FS) regarding the surgical management of thyroid nodules. METHODS:A total of 812 patients with solitary nodule or dominant nodule in a multinodular goiter were evaluated. The pa...
journal_title：Minerva endocrinologica
pub_type： 临床试验,杂志文章
doi：
更新日期：1997-03-01 00:00:00
abstract：:Thyroid nodule is extremely common. Its prevalence has been estimated to be more than 5% in the adult population. If thyroid nodule is a rare condition, 0.004% a year, identifying those nodules, which are likely to be malignant, is very important for physicians. The evaluation of thyroid is carried out using the fine ...
journal_title：Minerva endocrinologica
pub_type： 杂志文章,评审
doi：
更新日期：1993-09-01 00:00:00
abstract：:Nodular goiter encompasses a spectrum of diseases from the incidental asyntomatic small solitary nodule to the large intrathoracic goiter causing pressure symptoms as well as functional complaints. The mainstay in the diagnostic evaluation is related to functional and morphological characterization with serum thyroid-...
journal_title：Minerva endocrinologica
pub_type： 杂志文章,评审
doi：
更新日期：2010-09-01 00:00:00
abstract：AIM:The aim of this paper was to compare serum high sensitivity C-reactive protein (HsCRP) levels and carotid artery intima-media thickness (CIMT) of patients with impaired glucose tolerance (IGT) or impaired fasting glucose (IFG) with that in control subjects. METHODS:Ninety-six subjects with prediabetes, 48 with IFG...
journal_title：Minerva endocrinologica
pub_type： 杂志文章
doi：
更新日期：2013-09-01 00:00:00
abstract：:The treatment of NIDDM patients with secondary failure to sulfonylureas is still a debated problem. In this study we compared in NIDDM patients with secondary failure to glyburide, the effect of adding a single, low-dose bed time either NPH or ultralent insulin injection (0.15-0.2 U/kg) to the previously ineffective s...
journal_title：Minerva endocrinologica
pub_type： 临床试验,杂志文章,随机对照试验
doi：
更新日期：1996-06-01 00:00:00
abstract：AIM:Patients with differentiated thyroid carcinoma (DTC) are closely monitored during the first decade after diagnosis. At intervals of 1-2 years withdrawal of suppressive doses of T(4) is recommended in order to check thyroglobulin (Tg) levels under increased TSH. T(4) therapy is usually withdrawn for 5 weeks (during ...
journal_title：Minerva endocrinologica
pub_type： 杂志文章
doi：
更新日期：2006-06-01 00:00:00
abstract：:Bariatric surgery has been found to be very useful in treating established type-2 diabetes in obese persons, as well as in borderline diabetics, besides giving a good weight loss. Various modifications of the primary bariatric procedures have been introduced, with differ advantages and better efficacy. Good incretin r...
journal_title：Minerva endocrinologica
pub_type： 杂志文章,评审
doi：
更新日期：2016-12-01 00:00:00
abstract：:Patients and animals with poorly controlled or uncontrolled diabetes present with diurnal hypersecretion of glucocorticoids and altered regulation of the hypothalamo-pituitary-adrenocortical (HPA) axis. Although some of these changes are reversed with insulin replacement therapy, neuroendocrine function is not always ...
journal_title：Minerva endocrinologica
pub_type： 杂志文章,评审
doi：
更新日期：2003-06-01 00:00:00
abstract：:The majority of patients with differentiated thyroid cancer are cured with standard primary treatments including surgery, radioactive iodine and TSH suppression. A small proportion of patients who develop radioactive iodine-refractory metastatic disease have few treatment options. Recent discovery of the molecular mec...
journal_title：Minerva endocrinologica
pub_type： 杂志文章,评审
doi：
更新日期：2012-12-01 00:00:00
abstract：:The World population is facing a health challenge never seen since the Spanish influenza of one hundred years ago. During the last months, the scientific community has been debating on the potential harmful effect of Angiotensin-converting-enzyme inhibitors (ACEi) or Angiotensin II receptor Type 1 receptor blockers (A...
journal_title：Minerva endocrinologica
pub_type： 杂志文章
doi：10.23736/S0391-1977.20.03402-1
更新日期：2021-01-12 00:00:00
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journal_title：Minerva endocrinologica
pub_type： 杂志文章
doi：
更新日期：1992-10-01 00:00:00
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journal_title：Minerva endocrinologica
pub_type： 杂志文章
doi：
更新日期：1993-12-01 00:00:00
abstract：:Growth hormone-releasing hormone (GHRH) is a hypothalamic hormone that is essential for normal expansion of the somatotrope lineage during pituitary development. Decreased GHRH secretion and/or action leads to impairment of this process and somatotrope hypoplasia in both humans and experimental animals. Excessive GHRH...
journal_title：Minerva endocrinologica
pub_type： 杂志文章,评审
doi：
更新日期：2002-12-01 00:00:00
abstract：:Gestational diabetes mellitus (GDM) is diabetes that is first diagnosed in the second or third trimester of pregnancy in patients who did not have a history of diabetes before pregnancy. Consequences of GDM include increased risk of macrosomia and birth complications in the infant and an increased risk of maternal typ...
journal_title：Minerva endocrinologica
pub_type： 杂志文章
doi：10.23736/S0391-1977.20.03192-2
更新日期：2020-09-01 00:00:00
abstract：:Hyperhomocysteinemia is a well-established risk factor for cardiovascular disease. Various factors, both modifiable and non-modifiable, interact with the homocysteine metabolism and determine the plasma homocysteine concentrations. These include genetic abnormalities, age, sex and various nutritional and hormonal dete...
journal_title：Minerva endocrinologica
pub_type： 杂志文章,评审
doi：
更新日期：2002-09-01 00:00:00
abstract：AIM:The aim of this paper was to determine the prevalence of altered sensorium and their determinants in diabetic ketoacidosis (DKA). METHODS:Retrospective review of medical records for diabetic ketoacidosis admissions over a two year period. RESULTS:A total of 94 admissions for DKA in 89 patients were reviewed. Majo...
journal_title：Minerva endocrinologica
pub_type： 杂志文章
doi：
更新日期：2011-12-01 00:00:00
abstract：:Familial non-medullary thyroid cancer (FNMTC) constitutes 3-9% of all thyroid cancers and occur in two or more first-degree relatives in the absence of predisposing environmental factors. Out of all FNMTC cases, only 5% are represented by syndromic forms (Gardner's syndrome, familial adenomatous polyposis, Cowden's sy...
journal_title：Minerva endocrinologica
pub_type： 杂志文章
doi：10.23736/S0391-1977.20.03338-6
更新日期：2020-10-12 00:00:00
abstract：:Hyponatremia is common in neurosurgical patients and is associated with significant morbidity and mortality. Despite significant research efforts to date, we still lack a complete understanding of the pathophysiological mechanisms underlying hyponatremia in this patient setting. The purpose of this narrative review is...
journal_title：Minerva endocrinologica
pub_type： 杂志文章,评审
doi：
更新日期：2014-03-01 00:00:00
abstract：:This review concerns the relation between most frequent thyroid gland diseases and diabetes mellitus in adult patients. Special attention is paid to autoimmune thyroiditis, Graves' disease, thyroid autoimmunity in pregnant diabetic women, and iodine metabolism. We focused on mechanisms leading to coexistence of both e...
journal_title：Minerva endocrinologica
pub_type： 杂志文章,评审
doi：
更新日期：2005-12-01 00:00:00
