Abstract：
:Tall stature is defined as a height of more than 2 standard deviations (s.d.) above average for same sex and age. Tall individuals are usually referred to endocrinologists so that hormonal disorders leading to abnormal growth are excluded. However, the majority of these patients have familial tall stature or constitutional advance of growth (generally associated with obesity), both of which are diagnoses of exclusion. It is necessary to have familiarity with a large number of rarer overgrowth syndromes, especially because some of them may have severe complications such as aortic aneurysm, thromboembolism and tumor predisposition and demand-specific follow-up approaches. Additionally, endocrine disorders associated with tall stature have specific treatments and for this reason their recognition is mandatory. With this review, we intend to provide an up-to-date summary of the genetic conditions associated with overgrowth to emphasize a practical diagnostic approach of patients with tall stature and to discuss the limitations of current growth interruption treatment options.
journal_name
Eur J Endocrinoljournal_title
European journal of endocrinologyauthors
Albuquerque EVA,Scalco RC,Jorge AALdoi
10.1530/EJE-16-1054subject
Has Abstractpub_date
2017-06-01 00:00:00pages
R339-R353issue
6eissn
0804-4643issn
1479-683Xpii
EJE161054journal_volume
176pub_type
杂志文章,评审abstract：:Thirteen patients with active acromegaly despite previous surgery were treated with 30 mg lanreotide im twice a month for 9 months. In 10 subjects the treatment continued to 19 months. GH serum levels of all patients decreased significantly from an initial value of 32.0 (29.4) micrograms/l [median (standard error of m...
journal_title：European journal of endocrinology
pub_type： 杂志文章
doi：10.1530/eje.0.1310020
更新日期：1994-07-01 00:00:00
abstract：OBJECTIVE:To investigate the effect of Rosiglitazone in three patients treated with bilateral adrenalectomy followed by hyperpigmentation and hypersecretion of ACTH. PATIENTS AND METHODS:One patient had increasing ACTH after previous transsphenoidal surgery for Nelson's syndrome, and two patients without pituitary ade...
journal_title：European journal of endocrinology
pub_type： 杂志文章
doi：10.1530/eje.1.01994
更新日期：2005-10-01 00:00:00
abstract：:Klinefelter syndrome, 47,XXY (KS), is the most frequent sex chromosome aberration in males, affecting 1 in 660 newborn boys. The syndrome is characterized by testicular destruction with extensive fibrosis and hyalinization of the seminiferous tubules resulting in small testes, hypergonadotropic hypogonadism, and azoos...
journal_title：European journal of endocrinology
pub_type： 杂志文章,评审
doi：10.1530/EJE-12-0934
更新日期：2013-03-15 00:00:00
abstract：:The episodicity of 24 h GH release was studied in 18 patients with active acromegaly, 12 patients 7-10 days after pituitary surgery, 14 patients long after operation (3-17 years), and 21 healthy gender- and age-matched control subjects, using a recently introduced scale- and model-independent regularity statistic, app...
journal_title：European journal of endocrinology
pub_type： 杂志文章
doi：10.1530/eje.0.1380164
更新日期：1998-02-01 00:00:00
abstract：:The objective of the present study was to compare fasting levels of free IGF-I in serum from patients with adult onset growth hormone deficiency (GHD) and from healthy volunteers, and to examine the effect of GH replacement therapy in GHD on serum free IGF-I. Free IGF-I was measured using separation of free IGF-I by u...
journal_title：European journal of endocrinology
pub_type： 临床试验,杂志文章,随机对照试验
doi：10.1530/eje.0.1370132
更新日期：1997-08-01 00:00:00
abstract：OBJECTIVE:Chromosomal rearrangements of the RET proto-oncogene is one of the most common molecular events in papillary thyroid carcinoma (PTC). However, their pathogenic role and clinical significance are still debated. This study aimed to investigate the prevalence of RET/PTC rearrangement in a cohort of BRAF WT PTCs ...
journal_title：European journal of endocrinology
pub_type： 杂志文章
doi：10.1530/EJE-14-0930
更新日期：2015-05-01 00:00:00
abstract：:Sex steroids are important for the growth and maintenance of both the female and the male skeleton. However, the relative contribution of androgens versus estrogens in the regulation of the male skeleton is unclear. Experiments using mice with inactivated sex steroid receptors demonstrated that both activation of the ...
journal_title：European journal of endocrinology
pub_type： 杂志文章,评审
doi：10.1530/EJE-09-0118
更新日期：2009-06-01 00:00:00
abstract：OBJECTIVE:Mutations in HESX1 represent a rare cause of GH deficiency (GHD) associated with a broad spectrum of other anomalies. We searched for causative mutations in a cohort of 244 Italian patients affected by combined and isolated GHD (IGHD). METHODS:The HESX1 gene-coding region and exon-intron boundaries were scre...
journal_title：European journal of endocrinology
pub_type： 杂志文章
doi：10.1530/EJE-11-0047
更新日期：2011-05-01 00:00:00
abstract：:The aim of this review was to examine the evidence for age-related changes of the hypothalamic-pituitary-adrenal (HPA) axis in both physiological and pathological aging, on the basis of the many data in the literature, as well as of our personal findings. A statistically significant circadian rhythmicity of serum cort...
journal_title：European journal of endocrinology
pub_type： 杂志文章,评审
doi：10.1530/eje.0.1440319
更新日期：2001-04-01 00:00:00
abstract：OBJECTIVE:Somapacitan is a reversible albumin-binding growth hormone (GH) derivative, developed for once-weekly administration. This study aimed to evaluate the safety of once-weekly somapacitan vs once-daily Norditropin®. Local tolerability and treatment satisfaction were also assessed. DESIGN:26-week randomized, con...
journal_title：European journal of endocrinology
pub_type： 杂志文章,多中心研究,随机对照试验
doi：10.1530/EJE-17-1073
更新日期：2018-05-01 00:00:00
abstract：:Paragangliomas (PGLs) are rare vascular, neuroendocrine tumors of paraganglia, which are associated with either sympathetic tissue in adrenal (pheochromocytomas (PCCs)) and extraadrenal (sympathetic paraganglioma (sPGLs)) locations or parasympathetic tissue of the head and neck paragangliomas (HNPGLs). As HNPGLs are u...
journal_title：European journal of endocrinology
pub_type： 杂志文章,评审
doi：10.1530/EJE-14-0396
更新日期：2014-12-01 00:00:00
abstract：OBJECTIVE:Although fibroblast growth factor 23 (FGF23) has been implicated in the pathogenesis of cardiovascular disease, the relationship between FGF23 and cardiovascular disease has not been well characterized in the general population. The aim of this study was to determine whether serum FGF23 is independently assoc...
journal_title：European journal of endocrinology
pub_type： 杂志文章,随机对照试验
doi：10.1530/EJE-11-0577
更新日期：2011-11-01 00:00:00
abstract：BACKGROUND:Conventional glucocorticoid (GC) replacement for patients with adrenal insufficiency (AI) is inadequate. Patients with AI continue to have increased mortality and morbidity and compromised quality of life despite treatment and monitoring. OBJECTIVES:i) To review current management of AI and the unmet medica...
journal_title：European journal of endocrinology
pub_type： 杂志文章,评审
doi：10.1530/EJE-13-0450
更新日期：2013-10-21 00:00:00
abstract：:The experimental model of chronic inhibition of nitric oxide (NO) production has proven to be a useful tool to study cardiovascular and renal lesions produced by this type of hypertension, which are similar to those found in human hypertension. It also offers a unique opportunity to study the interaction of NO with th...
journal_title：European journal of endocrinology
pub_type： 杂志文章
doi：10.1530/eje.1.02314
更新日期：2007-01-01 00:00:00
abstract：OBJECTIVE:ATL1103 is a second-generation antisense oligomer targeting the human growth hormone (GH) receptor. This phase 2 randomised, open-label, parallel-group study assessed the potential of ATL1103 as a treatment for acromegaly. DESIGN:Twenty-six patients with active acromegaly (IGF-I >130% upper limit of normal) ...
journal_title：European journal of endocrinology
pub_type： 杂志文章,随机对照试验
doi：10.1530/EJE-18-0138
更新日期：2018-08-01 00:00:00
abstract：OBJECTIVES:Women with polycystic ovary syndrome (PCOS) frequently suffer from metabolic disturbances, in particular from insulin resistance. Accumulating evidence suggests that vitamin D deficiency may contribute to the development of the metabolic syndrome (MS). Hence, the aim of our study was to investigate the assoc...
journal_title：European journal of endocrinology
pub_type： 杂志文章
doi：10.1530/EJE-09-0432
更新日期：2009-10-01 00:00:00
abstract：:Serum thyrotropin (TSH) concentration circadian rhythm is abolished in many endocrine and non-endocrine diseases. In the present study we have measured serum TSH concentration over 24 h every 2 h in second and third trimester pregnant women. During the 24-h period, serum free thyroxine and free triiodothyronine concen...
journal_title：European journal of endocrinology
pub_type： 杂志文章
doi：10.1530/eje.0.1330071
更新日期：1995-07-01 00:00:00
abstract：OBJECTIVE:To determine the frequency of mutations of the gonadotropin-releasing hormone receptor (GnRHR) and of the G protein-coupled receptor 54 (GPR54) genes in normosmic idiopathic hypogonadotropic hypogonadism (IHH). METHODS:In a retrospective study we analyzed the GnRHR and the GPR54 genes of 45 IHH patients and ...
journal_title：European journal of endocrinology
pub_type： 杂志文章
doi：10.1530/eje.1.02031
更新日期：2005-12-01 00:00:00
abstract：:AMP-activated protein kinase (AMPK) is a cellular gauge that is activated under conditions, such as low energy, increasing energy production and reducing energy waste. Centrally, the AMPK pathway is a canonical route regulating energy homeostasis, by integrating peripheral signals, such as hormones and metabolites, wi...
journal_title：European journal of endocrinology
pub_type： 杂志文章,评审
doi：10.1530/EJE-16-0927
更新日期：2017-05-01 00:00:00
abstract：OBJECTIVE:In Cushing's disease (CD), GH responsiveness to several stimuli, including ghrelin, GHRP-6, and GHRH, is blunted. Recovery of GH secretion after remission of hypercortisolism after transsphenoidal surgery, radiotherapy, or adrenalectomy is controversial. There are no studies evaluating the effect of primary c...
journal_title：European journal of endocrinology
pub_type： 杂志文章
doi：10.1530/EJE-09-0459
更新日期：2009-11-01 00:00:00
abstract：Objective:Retrospective studies suggest that women have more active brown adipose tissue (BAT) than men, but little is known of the effect of fluctuating sex steroids across the menstrual cycle on thermogenesis in women. Design:To characterise the effects of sex and sex steroids on BAT activity we recruited healthy we...
journal_title：European journal of endocrinology
pub_type： 杂志文章
doi：10.1530/EJE-20-0184
更新日期：2020-09-01 00:00:00
abstract：:Based on experimental and animal models, epidemiological data from non-acromegaly populations, and longitudinal and cross-sectional cohorts of patients with acromegaly, a potential association between acromegaly and cancer has long been hypothesized, in particular colorectal cancer, and, to a lesser extent, breast, th...
journal_title：European journal of endocrinology
pub_type： 杂志文章,评审
doi：10.1530/EJE-16-0178
更新日期：2016-10-01 00:00:00
abstract：OBJECTIVE:To make the specificity of fluorodesoxyglucose ((18)FDG) positron emission tomography (PET) precise, in the follow-up of patients with adrenal cancer. DESIGN:This single centre retrospective study assessed the frequency and outcome of (18)FDG uptake in the remaining adrenal glands after adrenalectomy for adr...
journal_title：European journal of endocrinology
pub_type： 杂志文章
doi：10.1530/EJE-10-0666
更新日期：2011-01-01 00:00:00
abstract：OBJECTIVE:This study sought to compare patients with thyroid eye disease (TED) and normal controls with respect to the expression of the NR3C1, CHUK, IKBKB, FOS, NFKB and HSD11B1 genes in orbital fat (OF) and extraocular muscle (EOM). DESIGN AND METHODS:A prospective study design was used to evaluate 34 TED patients a...
journal_title：European journal of endocrinology
pub_type： 杂志文章
doi：10.1530/EJE-16-0945
更新日期：2017-04-01 00:00:00
abstract：:To evaluate the effects of two regimens of recombinant human GH (rhGH) on growth, bone growth and bone mineralization in GH deficient children, we studied two groups (A and B), each including 16 GH deficient children matched for sex, age, body mass index, height, height velocity and bone age/chronological age ratio (B...
journal_title：European journal of endocrinology
pub_type： 临床试验,杂志文章
doi：10.1530/eje.0.1420042
更新日期：2000-01-01 00:00:00
abstract：Objective:Several clinical studies have reported that renal impairments are sometimes observed in patients with primary aldosteronism (PA). We analyzed the prevalence of renal impairments in PA patients and identified parameters that increase the risk for them. Design:This is a retrospective cross-sectional study. We ...
journal_title：European journal of endocrinology
pub_type： 杂志文章
doi：10.1530/EJE-19-0047
更新日期：2019-09-01 00:00:00
abstract：OBJECTIVE:GHRH is secreted by the hypothalamus and, upon binding to specific GHRH receptors in the pituitary, stimulates growth hormone (GH) production and release from the pituitary. In addition to this neuroendocrine action, accumulated evidence implies additional roles for GHRH in carcinogenesis in non-pituitary tis...
journal_title：European journal of endocrinology
pub_type： 杂志文章
doi：10.1530/eje.0.1510391
更新日期：2004-09-01 00:00:00
abstract：CONTEXT:Chronic hypoxia induces complex metabolic and endocrine adaptations. High-altitude (HA) exposure is a physiological model of hypoxia. OBJECTIVE:To further investigate the endocrine and metabolic responses to extreme HA. METHODS:We studied nine male elite climbers at sea level and at 5200 m after climbing Mt. ...
journal_title：European journal of endocrinology
pub_type： 杂志文章
doi：10.1530/EJE-07-0355
更新日期：2007-12-01 00:00:00
abstract：OBJECTIVE:While anti-pituitary antibodies (APAs) were detected in some patients with Sheehan's syndrome (SS) suggesting an autoimmune pituitary involvement in the development of their hypopituitarism, hypothalamic cell anti-hypothalamus antibodies (AHAs) have not been investigated so far. DESIGN:The aim of this study ...
journal_title：European journal of endocrinology
pub_type： 杂志文章
doi：10.1530/EJE-07-0647
更新日期：2008-02-01 00:00:00
abstract：:The best test for the assessment of the hypothalamic-pituitary-adrenal (HPA) axis remains a matter of controversy. We compared the performance of the short synacthen test (SST, 250 microg) with the insulin stress test (IST) to assess the reliability of the former as a first line test. Patients with pituitary disease u...
journal_title：European journal of endocrinology
pub_type： 杂志文章
doi：10.1530/eje.0.1390580
更新日期：1998-12-01 00:00:00
