Abstract:
PURPOSE:Few examples of the involvement of a single gene in idiopathic short stature have been described until now. Our aim was to identify the causative gene of proportionate short stature in a large family showing co-segregation of the phenotype with the reciprocal translocation t(10;15)(q22;q24). METHODS:FISH mapping was carried out with BACs and long-range PCR probes to identify the smallest genomic regions harboring the translocation breakpoints. Real-Time RT-PCR was performed in blood after pre-amplification of target genes cDNA. RESULT:The affected family members presented with a final height of between - 2.41 and - 4.18 SDS and very mild skeletal dysmorphisms. Growth rates of the proband and of her cousin, whose childhood and pre-pubertal bone age corresponded to the chronological age, showed a poor growth spurt during treatment with rhGH. However, their adult height was greater than that of their untreated mothers, suggesting efficacy of GH therapy. Breakpoint mapping revealed that the translocation t(10;15)(q22.3;q26.1) disrupts, on 15q, the ACAN gene at intron 1, decreasing its transcriptional expression. CONCLUSIONS:This is the first description of a chromosome rearrangement disrupting ACAN and leading to its haploinsufficiency. ACAN loss of function should be considered a potential underpinning of short patients who display a poor growth spurt and belong to families with autosomal dominant segregation of proportionate short stature. Besides this core phenotype, literature review suggests that advanced bone age, early onset osteochondritis dissecans, osteoarthritis, intervertebral disc disease as well as craniofacial dysmorphisms can be important suggestive phenotypes in affected families.
journal_name
J Endocrinol Investjournal_title
Journal of endocrinological investigationauthors
Crippa M,Giangiobbe S,Villa R,Bestetti I,De Filippis T,Fatti L,Taurino J,Larizza L,Persani L,Bellini F,Finelli P,Bonati MTdoi
10.1007/s40618-017-0819-3subject
Has Abstractpub_date
2018-08-01 00:00:00pages
929-936issue
8eissn
0391-4097issn
1720-8386pii
10.1007/s40618-017-0819-3journal_volume
41pub_type
杂志文章abstract:PURPOSE:To report the long-term effectiveness and safety of the recombinant human growth hormone Omnitrope®, a somatropin biosimilar to Genotropin®, in Italian patients with growth hormone deficiency (GHD) enrolled in the PATRO Adults study. METHODS:The PATRO Adults study is an ongoing observational, longitudinal, non...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章,多中心研究
doi:10.1007/s40618-016-0604-8
更新日期:2017-06-01 00:00:00
abstract::The aim of this study was to investigate the role of multimodality treatment in patients with anaplastic thyroid carcinoma. From 1992 to 1999, 39 consecutive patients with a histologically or cytologically proven anaplastic thyroid carcinoma were referred to the Thyroid Center of Padua General Hospital. There were 28 ...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/BF03345066
更新日期:2000-12-01 00:00:00
abstract::Rats bearing mammosomatotropic tumors have raised insulin but lowered glucose concentrations. To determine if growth hormone (GH) secreted by these tumors causes insulin antagonism, pancreatic suppression tests utilizing infusions (per kg per min) of glucose (8 mg), insulin (200 ng) and somatostatin (1.4 micrograms) f...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/BF03346996
更新日期:1987-12-01 00:00:00
abstract::Traumatic brain injury (TBI)-induced hypopituitarism remains a relevant medical problem, because it may affect a significant proportion of the population. In the last decade important studies have been published investigating pituitary dysfunction after TBI. Recently, a group of experts gathered and revisited the topi...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.3275/7805
更新日期:2011-07-01 00:00:00
abstract::A study of the effects of salmon calcitonin (sCT) infusion on blood sugar and serum insulin levels under basal conditions and after intravenous glucose load in normal subjects is reported. Under basal conditions, a 30 min infusion of sCT at approximately a rate of 1 U/min produced a highly significant increase in the ...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/BF03349315
更新日期:1979-04-01 00:00:00
abstract::Effects of primary hypothyroidism (HYPO) on the male gonadal axis are controversial, with only scanty data on the gonadotroph cell response and no information on GnRH tuberoinfundibular neurons, even in animal models. HYPO has been reported to variably induce hypogonadotropic hypogonadism, a hypergonadotropic state, o...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章,评审
doi:
更新日期:2005-01-01 00:00:00
abstract::In a 41-year-old hirsute woman, severe hypercalcemia led to the discovery of hyperparathyroidism related to the involvement (hyperplasia/or adenoma) of the 4 parathyroid glands. Plasma and urinary DHA, plasma DHA-sulfate and delta 5 steroid precursors were elevated. Steroid hormone hypersecretion was stimulated by hCG...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/BF03347005
更新日期:1987-12-01 00:00:00
abstract::Ghrelin, a natural GH secretagogue, exerts remarkable endocrine and non-endocrine activities such as orexigenic effect and modulation of the endocrine and metabolic response to variations in energy balance. Ghrelin levels have been reported to be negatively associated to insulin secretion, enhanced in anorexia and red...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/BF03344026
更新日期:2002-05-01 00:00:00
abstract::In order to investigate the effect of gender, age and level of obesity on body composition and anaerobic power output, and to test the hypothesis that variation in body composition affects muscle power output in obesity, a cohort of 377 subjects (112 males and 265 females, aged 18-75 yr) with different levels of obesi...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/BF03346280
更新日期:2004-10-01 00:00:00
abstract::The DAZ (deleted in azoospermia) gene family is considered the major AZFc ("azoospermia factor" c) candidate responsible for male infertility. However, other genes have been recently mapped to this region and they could contribute to the AZFc phenotype. In particular, the testis-specific CDY1 (chromadomain protein 1) ...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/BF03343814
更新日期:2001-02-01 00:00:00
abstract::We herein describe a 40-year-old woman with hyperprolactinemia, an empty sella and two extrasellar intracranial recurrent tumors which were revealed 23 years after the first transfrontal craniotomy and 18 years after the second transfrontal surgery and irradiation to a provable prolactin-producing pituitary macroadeno...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/BF03351046
更新日期:2001-06-01 00:00:00
abstract:BACKGROUND:The Arnolfini portrait painted by Jan van Eyck in 1434 remains one of the most puzzling yet alluring paintings of prerenaissance western art. PURPOSE:The painting is renowned for its exactitude in brush strokes, textures and the distinctive morphology of the main character Arnolfini. The nature of these req...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/s40618-017-0751-6
更新日期:2018-01-01 00:00:00
abstract:BACKGROUND:Functional hypothalamic amenorrhea (FHA) refers to a functional menstrual disorder with various causes and presentations. Recovery of menstrual cyclicity is common in long-term follow-up but the affecting factors remain unknown. AIM:To explore factors affecting the menstrual resumption and to evaluate the p...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.3275/8939
更新日期:2013-11-01 00:00:00
abstract:PURPOSE:Testosterone replacement therapy (TRT) is recommended for the treatment of most cases of male hypogonadism. Transdermal testosterone (T) gels are commonly used in clinical practice; however, there is little evidence concerning how to monitor dosage to bring and maintain serum T levels in the normal physiologic ...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/s40618-019-01082-x
更新日期:2019-12-01 00:00:00
abstract:BACKGROUND:Obesity represents a global public health problem due to its association with cardiovascular diseases and reduced lifespan. The most widely used classification of obesity is expressed as Body Mass Index (BMI); however, this formula is an imprecise adiposity measurement that ignores several important factors ...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/s40618-013-0048-3
更新日期:2014-06-01 00:00:00
abstract::The adrenomedullary response to stimuli is often elevated in poorly controlled insulin dependent diabetic patients, and it is controversial whether the adrenomedullary hyperactivity induces the suppression of the circadian rhythm of catecholamines. We have studied the urinary excretion of catecholamines in 11 diabetic...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/BF03348628
更新日期:1990-07-01 00:00:00
abstract::It is well accepted that mortality in acromegaly is increased because of cardiovascular and respiratory diseases while neoplastic complications account less to mortality. Amongst different cardiovascular complications the most frequent is biventricular hypertrophy, which occurs independently of hypertension and metabo...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章,评审
doi:
更新日期:2005-01-01 00:00:00
abstract:BACKGROUND:In contrast with maximal voluntary resistance exercise, which is allegedly considered a potent GH stimulus in young subjects, evaluation of GH response to whole-body vibrations (WBV) has yielded conflicting results. METHODS:The acute effects of WBV alone (test A), maximal voluntary isometric contractions (M...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/BF03347069
更新日期:2011-03-01 00:00:00
abstract::The TSH responses to the catecholamine depleting agent monoiodotyrosine (1 g po) and the dopamine receptor blocking drug metoclopramide (10 mg po) have been compared in euthyroid and hypothyroid subjects. Both drugs lead to a prompt and significant rise in TSH levels (peak values at 60-75 min) which is very much great...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/BF03348238
更新日期:1980-04-01 00:00:00
abstract::In normal man 1,25 (OH)2-vitamin D3 [1,25 (OH)2D] increases both basal and TRH-stimulated prolactinemia; this effect is completely reversible by the calcium antagonist nifedipine. Similarly the 1,25 (OH)2D-induced hypercalcemia is totally inhibited by nifedipine. These findings suggest that both biological effects of ...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/BF03350657
更新日期:1985-04-01 00:00:00
abstract::Plasma T4, T3, and TSH, and total and 131l-labeled T4 and T3 in thyroid digests were determined in male and female rats from birth to 30--45 days postnatally. Mothers and offspring were fed a high-iodine Purina diet throughout. In both sexes, plasma T4 was less than 1 microgram/100ml at birth but rose linearly to a pe...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/BF03350975
更新日期:1978-10-01 00:00:00
abstract:INTRODUCTION:Interleukins and cytokines play an important role in the pathogenesis of many cancers.We aimed to evaluate the interleukin (IL)-6 gene polymorphisms in patients with papillary thyroid carcinoma (PTC) and control subjects. MATERIAL AND METHODS:In this study, 42 patients with PTC and 340 healthy controls we...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/BF03346494
更新日期:2009-06-01 00:00:00
abstract:BACKGROUND:During application of orthodontic force on the tooth, various molecular parameters associated with tissue remodeling are changed. IGF-I is a regulatory protein produced during periodontal regeneration. IGF binding proteins-3 (IGFBP-3), a specific IGF-I binding protein, is the major regulatory factor of IGF-I...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/BF03345340
更新日期:2005-12-01 00:00:00
abstract:BACKGROUND:Protein tyrosine phosphatase (PTP)- 1B, encoded by the PTPN1 gene, negatively regulates insulin signaling by dephosphorylating the phosphotyrosine residues of the insulin receptor kinase activation segment. Several rare single nucleotide polymorphisms (SNP) have been linked to diseases accompanying insulin r...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/BF03346629
更新日期:2010-07-01 00:00:00
abstract::We describe a unique case of spontaneous resolution of hyperparathyroidism in a lady with combined parathyroid adenoma and prolactinoma, raising the possibility of underlying multiple endocrine neoplasia (MEN) 1 syndrome. We also discuss the mechanism and natural history of such spontaneous remission. ...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/BF03345292
更新日期:2004-05-01 00:00:00
abstract::To analyze the inhibitory effect of hormone replacement therapy (HRT) on bone resorption, we measured urinary excretion of C-telopeptide (CTX) and N-telopeptide (NTX) of type I collagen as new markers of bone resorption and assessed their correlation with bone mineral density, in comparison with urinary pyridinoline (...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/BF03347294
更新日期:1998-03-01 00:00:00
abstract:INTRODUCTION:Vitamin D (VD) insufficiency has been repeatedly observed in the medical conditions associated with inflammation, such as cardiovascular disease, diabetes and depression. However, contrasting to the observational evidence, randomized trials of VD supplementation failed to demonstrate such link. Given the r...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/s40618-014-0191-5
更新日期:2014-11-01 00:00:00
abstract::The effect of an oral dose of 200 or 400 mg sodium valproate (DPA) on ACTH and cortisol secretion was assessed in 11 patients with Cushing's disease (3 bilaterally adrenalectomized), 3 patients with Nelson's syndrome and 6 patients with Addison's disease. In none of the patients examined DPA induced changes in ACTH (a...
journal_title:Journal of endocrinological investigation
pub_type: 临床试验,杂志文章
doi:10.1007/BF03348396
更新日期:1984-04-01 00:00:00
abstract::The Nb2 rat lymphoma bioassay (BA) for prolactin (PRL) was performed in 26 subjects with hyperprolactinemia, 17 of whom had radiologic evidence of a pituitary adenoma. All subjects were treated with the long acting dopamine agonist CV 205-502. The radioimmunoassay (RIA) PRL significantly decreased with treatment but t...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/BF03348787
更新日期:1992-07-01 00:00:00
abstract::Entering puberty is one of the most important milestones in life. Studies from around the world have shown that age of pubertal changes onset can vary with race and ethnicity, environmental conditions, geographical location and nutrition. In the last century, the onset of puberty progressively shifted back towards you...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/BF03347256
更新日期:2005-07-01 00:00:00