Abstract:
:Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is an inherited disease which may comprise many endocrine and non-endocrine components. GH insufficiency has not been recognised as a classical manifestation of this syndrome. We describe the case of a girl with APECED, who presented with four endocrine (hypoparathyroidism, Addison's disease, hypothyroidism, gonadal failure) and three non-endocrine components (candidiasis, ectodermal dystrophy and lichen ruber planus). In addition, growth failure was documented beginning at approximately 8 years; bone age was delayed and stimulated GH peaks after clonidine and arginine were 2.2 and 9.2 microg/l, respectively. A partial empty sella was found on a computed tomography scan of the hypothalamic-pituitary region. At 10.5 years rhGH therapy was started and height gain of 26 cm was observed after 2.7 years of treatment. Puberty started at 11.2 years and menarche occurred at 12.7 years. At 13.25 years rhGH therapy was discontinued owing to frequent hypocalcemic crises; serum IGF-1 levels were persistently low in the following years (between 160 and 180 microg/l, normal range for age 250-600 microg/l). The patient attained a final height of 160.8 cm, which was appropriate for her target height. The presence of lichen ruber planus and GH insufficiency probably secondary to empty sella are two unusual findings in patients with APECED.
journal_name
J Endocrinol Investjournal_title
Journal of endocrinological investigationauthors
Franzese A,Valerio G,Di Maio S,Iannucci MP,Bloise A,Tenore Adoi
10.1007/BF03345481keywords:
subject
Has Abstractpub_date
1999-01-01 00:00:00pages
66-9issue
1eissn
0391-4097issn
1720-8386journal_volume
22pub_type
杂志文章abstract::Nutritional and hormonal milieu in utero affect fetal growth. Both parties involved have an independent chance, for the occurrence of a developmental error at any stage of their constant developing system. Studies suggest that pregnancy outcome is associated with fetal demand for nutrients and the materno-placental ca...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章,评审
doi:10.1007/BF03345248
更新日期:2003-09-01 00:00:00
abstract::Many studies have shown that fat distribution influences metabolism independently of the effects of total body fat stores. The accumulation of fat in the abdominal area, particularly in the visceral fat compartment, seems to be associated with an increased risk to display complications such as insulin resistance, diab...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章,评审
doi:10.1007/BF03344051
更新日期:2002-11-01 00:00:00
abstract:BACKGROUND:Agents capable of increasing radioiodine concentration by stimulating the sodium/iodide symporter (NIS) expression have been extensively investigated for the treatment of certain well-differentiated breast cancers. AIM:In this study, we analyzed the regulation of the NIS and lactoperoxidase (LPO) gene expre...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/BF03346542
更新日期:2010-01-01 00:00:00
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journal_title:Journal of endocrinological investigation
pub_type: 杂志文章,评审
doi:10.3275/7843
更新日期:2011-10-01 00:00:00
abstract::We hereby present a rare variant of multiple endocrine neoplasia type 2A (MEN2A) associated with a rare skin disease primary cutaneous lichen amyloidosis and discrete malignant pheochromocytoma in both adrenal glands and pancreatic tail, and interestingly accompanied ganglioneuroma located in retroperitoneum in a 34-y...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/BF03347557
更新日期:2005-09-01 00:00:00
abstract::Aromatase activity for androstenedione was measured in stromal cells of human uterine endometrium throughout the menstrual cycle. The effect of progestogen on aromatase activity was also examined in the endometrial stromal cells. Aromatase activity tended to be high in the proliferative cells compared to the secretory...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/BF03349962
更新日期:1989-03-01 00:00:00
abstract::Glucocorticoid receptors (GR) and 3-O-methyl-D glucose (3-O-MG) transport were determined in mononuclear leukocytes (MNL) from 11 abdominal obese subjects, 10 pituitary-dependent Cushing's syndrome (Cushing's disease) and 10 healthy controls. Using a whole-cell competitive binding assay and 3H-dexamethasone as tracer,...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/BF03350794
更新日期:1998-11-01 00:00:00
abstract::EP1572 UMV1843 [Aib-DTrp-DgTrp-CHO]) is a new peptido-mimetic GH secretagogue (GHS) showing binding potency to the GHS-receptor in animal and human tissues similar to that of ghrelin and peptidyl GHS. EP1572 induces marked GH increase after s.c. administration in neonatal rats. Preliminary data in 2 normal young men s...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/BF03345096
更新日期:2002-09-01 00:00:00
abstract::The differential diagnosis of an osteoblastic vertebral lesion (ivory vertebra) includes metastatic prostate cancer, lung cancer, lymphoma, osteosarcoma and Paget's disease. We report a case of a man who was initially diagnosed with Paget's disease on vertebral biopsy. He failed to respond to conventional bisphosphate...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/BF03343770
更新日期:2000-09-01 00:00:00
abstract::The behavior of serum anti-thyroglobulin (Abs-Tg) and antimicrosomal antibodies (Abs-Mc) was examined during and after normal pregnancies. The antibodies titer decreases as pregnancy progresses; they cross the placenta and are present in the fetal serum. Infants' thyroid function is not affected by this transplacentar...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/BF03349385
更新日期:1980-10-01 00:00:00
abstract::Subclinical hypothyroidism (SH) is a common clinical problem, particularly in adulthood and the elderly. Its prevalence is conditioned by several etiological and risk factors. The highest age- and sex-specific rates are in women over 60. SH may be associated with manifestations of mild thyroid failure, which may rever...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章,评审
doi:10.1007/BF03345571
更新日期:2008-01-01 00:00:00
abstract::During a systematic study of women with idiopathic galactorrhea, we observed several patients with normal random serum prolactin (PRL) levels and normal menses, but abnormal sellar tomograms characteristic of a pituitary adenoma. To test the hypothesis that these women might have intermittent PRL hypersecretion, we st...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/BF03348450
更新日期:1984-10-01 00:00:00
abstract:OBJECTIVE:Aim of this study is to report on basal clinical phenotype and follow up after diagnosis, of patients with 17beta-hydroxysteroid-dehydrogenase type 3 (17beta-HSD3) deficiency in Italy. SETTING:Pediatric Endocrine Departments, University Hospitals. PATIENTS:The cases of 5 Italian subjects affected by 17beta-...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/BF03345738
更新日期:2009-09-01 00:00:00
abstract::Non-classical congenital adrenal hyperplasia (NCAH) is a morbid condition sustained by the reduced function of one of the enzymes involved in the adrenal steroid biosynthesis pathway, mainly the 21-hydroxylase. Different degrees of enzyme activity impairment determine different clinical pictures, with childhood or pos...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.3275/7410
更新日期:2011-10-01 00:00:00
abstract::Plasma insulin immunoreactivity (IRI) results from high molecular weight substances with insulin immunoreactivity (HWIRI), proinsulin (PI) and insulin (I). Their respective concentrations and percentages of IRI were determined preoperatively in the hepatic and peripheral circulations and after surgery in the latter tw...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/BF03350520
更新日期:1982-09-01 00:00:00
abstract:PURPOSE:Aims of this study were to evaluate the agreement between the short and long versions of the International Physical Activity Questionnaire (IPAQ: Italian versions), their reproducibility (agreement and reliability) and construct validity (relative to pedometry) in a clinical population. METHODS:Ninety patients...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/s40618-017-0746-3
更新日期:2018-03-01 00:00:00
abstract::Prolactin (PRL) circulates as multiple molecular weight variants: glycosylated phosphorylated, deamidated and sulphated forms. The profiles of the forms, as determined by isoelectrofocusing (IEF), differ in physiological and pathological conditions. The case of a 72-year-old woman affected by an invasive prolactinoma ...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/BF03350303
更新日期:1997-05-01 00:00:00
abstract::LATS containing sera and a number of Graves' disease sera stimulated T4 release from mouse thyroids in vitro as determined by RIA, thus confirming the presence of a thyroid hormone releasing factor in sera of thyrotoxic patients. The pattern of stimulation was similar to that previously shown for TSH in terms of T4 re...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/BF03350973
更新日期:1978-10-01 00:00:00
abstract:BACKGROUND:Elevated γ-glutamyl transpeptidase (GGT) and alanine aminotransferase (ALT) could predict the risk of Type 2 diabetes (T2D), but the reason for their elevation was unclear. GGT and ALT mediated the metabolism of many amino acids (AA). Up to now, it was not investigated whether abnormal AA concentration was a...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.3275/8059
更新日期:2012-09-01 00:00:00
abstract:BACKGROUND:In vitro data have shown conflicting results in terms of the effect of leptin on granulosa cells steroidogenesis. AIM:The aim of the present study was to investigate the effect of low and high doses of leptin on basal and FSH-induced steroids secretion by human luteinized granulosa cells in culture. MATERI...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/BF03346478
更新日期:2009-05-01 00:00:00
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journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/BF03348511
更新日期:1985-08-01 00:00:00
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journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.3275/7861
更新日期:2012-06-01 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::Measurement of serum Tg using ultrasensitive assays is proposed to replace TSH-stimulated Tg measurement in the follow-up of differentiated thyroid cancer (DTC). Aim of our study was to verify this possibility using two ultrasensitive Tg assays. We selected 215 DTC patients with undetectable (<1 ng/ml) basal serum Tg ...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.3275/7571
更新日期:2011-09-01 00:00:00
abstract::The purpose of this study was to detect in vitro growth hormone (GH) and prolactin (PRL) secretion from adenomas clinically associated with GH or PRL hypersecretion. The reverse hemolytic plaque assay (RHPA) was applied in order to reveal possible differences among various morphologic adenoma types, and to examine the...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/BF03343628
更新日期:1999-10-01 00:00:00
abstract::We treated a 10 6/12 year old prepubertal male with hypophosphatemic rickets, who was growing poorly despite appropriate treatment with calcitriol and phosphate, with exogenous growth hormone (for an initial trial period of 4 months, followed by 14 months of continuous treatment at a dose of 4 IU three times weekly) e...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/BF03349633
更新日期:1990-11-01 00:00:00
abstract::Prolactin, growth hormone and thyroid stimulating hormone responses to thyrotropin releasing hormone (TRH) and metoclopramide were determined in 12 alcoholic men with biopsy proven liver disease and were compared to those of 8 age matched normal controls. All subjects were challenged with TRH (400 micrograms) and meto...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/BF03350515
更新日期:1982-09-01 00:00:00
abstract:PURPOSE:The aim of this study was to evaluate the prevalence and risk factors associated with female sexual dysfunction (FSD) in young women with type 1 diabetes treated with different intensive insulin regimens. METHODS:Type 1 diabetic women aged 18-35 years were included in this study if they had stable couple relat...
journal_title:Journal of endocrinological investigation
pub_type: 临床试验,杂志文章
doi:10.1007/s40618-016-0542-5
更新日期:2017-02-01 00:00:00
abstract::IGF-I stimulates protein synthesis, lowers blood glucose, and affects cell differentiation. The main production site of IGF-I is the liver. One of its binding proteins, IGFBP-1, is also produced by the liver. It is well known that ethanol affects the function of the human liver. Long-term alcohol abuse may therefore n...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/BF03343879
更新日期:2001-07-01 00:00:00
abstract:UNLABELLED:Hexarelin (HEX) is a synthetic hexapeptide with strong GH-stimulating activity. We evaluated GH response (expressed as maximum value after stimulus [Cmax] and as area under the curve [AUC]) to HEX at the doses of 1 microg/kg i.v. (HEX 1) and 2 microg/kg i.v. (HEX 2), in comparison with the responses to GHRH ...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/BF03343574
更新日期:1999-05-01 00:00:00