Abstract:
OBJECTIVE:Blepharophimosis syndrome (BPES) is an autosomal dominant genetic condition resulting from heterozygous mutations in the FOXL2 gene and clinically characterized by an eyelid malformation associated (type I) or not (type II) with premature ovarian failure. The distinction between the two forms is critical for female patients, as it may allow to predict fertility and to plan an appropriate therapy. Identifying an underlying causative mutation is not always predictive of the clinical type of BPES since genotype-phenotype correlations are not yet fully delineated. Here, we describe the clinical and hormonal phenotypes of three female patients with BPES type 1 from two novel families, correlate their phenotypes with identified mutations, and investigate the effects of hormone replacement therapy (HRT). METHODS:Clinical, biochemical, and genetic evaluation were undertaken in all the patients and genotype-phenotype correlation was analyzed. The effects of substitutive hormonal therapy on secondary sexual characteristics development and induction of menarche were evaluated. RESULTS:All patients presented with primary amenorrhea or other signs of ovarian dysfunction. Two distinct mutations, a missense p.H104R change and an in-frame p.A222_A231dup10 duplication in the FOXL2 gene were identified. Observed phenotypes were not in accordance with the prediction based on the current genotype-phenotype correlations. HRT significantly improved secondary sexual characteristics development, as well as the induction of menarche. CONCLUSIONS:This study highlights the importance of early recognition of BPES and emphasizes the need of personalized therapy and follow-up in female patients carrying distinct FOXL2 mutations.
journal_name
J Endocrinol Investjournal_title
Journal of endocrinological investigationauthors
Nuovo S,Passeri M,Di Benedetto E,Calanchini M,Meldolesi I,Di Giacomo MC,Petruzzi D,Piemontese MR,Zelante L,Sangiuolo F,Novelli G,Fabbri A,Brancati Fdoi
10.1007/s40618-015-0334-3subject
Has Abstractpub_date
2016-02-01 00:00:00pages
227-33issue
2eissn
0391-4097issn
1720-8386pii
10.1007/s40618-015-0334-3journal_volume
39pub_type
杂志文章abstract:PURPOSE:Although men with spinal cord injury (SCI) exhibit a prostate volume significantly smaller compared to age-matched able-bodied men, the independent association of lower prostate volume with its putative determinants has never been analyzed in this population. This study was designed to identify variables indepe...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/s40618-020-01243-3
更新日期:2020-11-01 00:00:00
abstract:BACKGROUND:Due to the lack of specific pediatric studies, no data are available about natural history of endogenous subclinical hyperthyroidism (SH) in childhood. AIMS:(a) To investigate for the first time the natural history of SH [suppressed thyrotropin (TSH) and normal free thyroxine free thyroxine (FT4) levels] wh...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章,多中心研究
doi:10.1007/s40618-014-0054-0
更新日期:2014-03-01 00:00:00
abstract:PURPOSE:To compare the histopathological features and the outcomes of the follicular variant and classical variant of papillary thyroid carcinoma. MATERIAL AND THE METHODS:Demographic data, histopathological features (tumor size, thyroid capsule invasion, extrathyroidal extension, vascular invasion and multicentricity...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/s40618-015-0376-6
更新日期:2015-12-01 00:00:00
abstract:OBJECTIVE:To determine whether glycated hemoglobin (HbA1c) could be used to diagnose Type 2 diabetes mellitus in She Chinese People and to assess the role of HbA1c in the development of cardiovascular disease. RESEARCH DESIGN AND METHODS:An ethnically representative sample of 687 (277 males and 410 females) adults, 20...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章,随机对照试验
doi:10.3275/7749
更新日期:2012-01-01 00:00:00
abstract::Eighteen patients affected by laparoscopically confirmed endometriosis were randomly assigned to three different schedules of treatment with gonadotropin-releasing hormone agonist (GnRH-a) (goserelin depot formulation 3.6 mg) every 28 days for 6 months. Six women received the first implant in early follicular phase, 4...
journal_title:Journal of endocrinological investigation
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1007/BF03348925
更新日期:1993-11-01 00:00:00
abstract::We have measured eye muscle antibodies, in immunoblotting, in the serum from five patients with severe ophthalmopathy associated with Graves' hyperthyroidism who underwent plasmapheresis, correlating their levels with clinical features of the eye disorder and response to treatment. Blood taken before each plasma excha...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/BF03348906
更新日期:1993-10-01 00:00:00
abstract::It has been shown that human calcitonin (hCT) is absorbed through the nasal mucosa when administered together with promoters like sodium glycocholate (SGC) or dihydrofusinate. The aim of this study was to compare the clinical and metabolic effect of intranasal (in) and intramuscular (im) hCT in patients with osteoporo...
journal_title:Journal of endocrinological investigation
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1007/BF03350260
更新日期:1991-01-01 00:00:00
abstract:CONTEXT:The latest guidelines of the 4th International Workshop on Asymptomatic Primary Hyperparathyroidism (aPHPT) reintroduced hypercalciuria (i.e. urinary calcium > 400 mg/day) as criterion for surgery. However, the value of hypercalciuria as a predictor of nephrolithiasis and the correct cut-off values still need t...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/s40618-019-01162-y
更新日期:2020-05-01 00:00:00
abstract::Basal IGF-I levels and the GH response to at least two among provocative stimuli such as clonidine (CLO, Catapresan, 150 mcg/m2 p.o.), GHRH (1 mcg/kg i.v.)+arginine (ARG, 0.5 g/kg i.v. infusion during 30 min) and GHRH+pyridostigmine (PD, Mestinon cpr 60 mg p.o.) have been evaluated in 43 children with Prader-Willi syn...
journal_title:Journal of endocrinological investigation
pub_type: 临床试验,杂志文章
doi:10.1007/BF03343684
更新日期:2000-02-01 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::Sjögren's syndrome (SS) is an autoimmune epithelitis characterized by lymphocytic infiltration of exocrine glands and epithelia in multiple sites. One third of the patients present with peripheral nervous system involvement. We describe the case of a woman aged 62 affected by a peroneal nerve mononeuropathy with painf...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:
更新日期:2004-01-01 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::Follicular thyroid carcinoma may spread distant metastases in sites such as bone, lung and brain. In our series of 448 patients with follicular thyroid carcinoma, distant metastases were present in 25% of cases. We report here a case of follicular thyroid carcinoma with a single metastasis at the right adrenal gland, ...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/BF03347667
更新日期:1993-02-01 00:00:00
abstract:PURPOSE:Arginine vasopressin (AVP) may be involved in metabolic syndrome (MetS) by altering liver glycogenolysis, insulin and glucagon secretion, and pituitary ACTH release. Moreover, AVP stimulates the expression of 11β-hydroxysteroid-dehydrogenase-type 2 (11β-HSD2) in mineralocorticosteroid cells. We explored whether...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/s40618-017-0807-7
更新日期:2018-07-01 00:00:00
abstract::Cerebral ischemia and symptoms of stroke can occur as a rare manifestation in patients with pheochromocytoma. We describe a 45-year-old woman who was admitted because of a right-sided hemiparesis due to an ischemic lesion in the left hypothalamus. The clinical diagnosis of a pheochromocytoma was proven by highly eleva...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/BF03343544
更新日期:1999-03-01 00:00:00
abstract:OBJECTIVE:Neuroendocrine dysfunction in polycystic ovary syndrome (PCOS) was addressed by studying the steroid hormone changes in women with PCOS with either high or normal LH levels leading to inferences regarding the primacy of elevated LH in the pathophysiology of PCOS. METHODS:A cross-sectional study was designed ...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/BF03345319
更新日期:2005-11-01 00:00:00
abstract::The article "EStradiol and PRogesterone in In vitro ferTilization (ESPRIT): a multicenter study evaluating third‑ versus second‑generation estradiol and progesterone immunoassays. ...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章,已发布勘误
doi:10.1007/s40618-020-01295-5
更新日期:2020-09-01 00:00:00
abstract:BACKGROUND:Visfatin [pre-B cell colony- enhancing factor (PBEF)] is a cytokine highly expressed in visceral fat that exhibits insulin-mimetic properties. However, its role in insulin-resistant states, such as in metabolic syndrome (MetS), remains largely unknown. OBJECTIVE:To investigate the possible differences of pl...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/BF03346300
更新日期:2007-04-01 00:00:00
abstract::As it has been hypothesized that IGF-binding proteins (IGFBPs) may have a role as autocrine/paracrine factors in regulating the local actions of the insulin-like growth factors (IGFs) in the ovary, we studied the production of the IGFBPs by human granulosa cells (GC) in culture and the role of IGFBP-3 in the modulatio...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/BF03347856
更新日期:1996-01-01 00:00:00
abstract::Much research has demonstrated that in late pregnancy glucose administration causes a marked increase of peripheral insulin levels. To ascertain whether this particular increase is due to increased insulin secretion and/or to reduced hepatic insulin removal, we measured blood glucose, plasma C-peptide and plasma insul...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/BF03347933
更新日期:1991-11-01 00:00:00
abstract::Exhaustive graded exercise leads to changes of hormones, carbohydrate, and lipid metabolism in normal controls and obese patients after prolonged starvation. Concomitant with a large increase of plasma catecholamines, insulin concentration is reduced and blood glucose levels slowly increase. More glucose is made avail...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/BF03348344
更新日期:1983-12-01 00:00:00
abstract::We report the case of a patient who developed Graves' disease and a papillary thyroid cancer only 5 years after irradiation and adjuvant chemotherapy for Hodgkin's disease. This case is peculiar for the very short latency time between Hodgkin's disease treatment and thyroid cancer development, an event possibly relate...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/BF03349835
更新日期:1995-12-01 00:00:00
abstract::Somatostatin has been found in the pineal gland of several animal species, which suggests that it may be involved in the regulation of melatonin secretion. Whether somatostatin has regulatory influence on melatonin secretion in man has never been unequivocally shown. We studied the nocturnal melatonin secretion in 8 h...
journal_title:Journal of endocrinological investigation
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1007/BF03343604
更新日期:1999-07-01 00:00:00
abstract::The case of a 15-yr-old boy with C11 hydroxylase deficiency congenital adrenal hyperplasia is reported who was diagnosed and treated as true precocious puberty at the age of 2 yr because of virilization and bilateral testicular enlargement. He later developed hyperpigmentation, hypertension and short stature and becau...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章,评审
doi:10.1007/BF03345128
更新日期:2003-01-01 00:00:00
abstract::During diabetic ketoacidosis, in 17 adult patients, significant decreases in serum TBG and total T4 levels were observed, without significant alteration of the T4 to TBG binding property. In addition, serum free T4 (FT4) was moderately elevated and the TSH response to TRH was markedly blunted. No correlation, however,...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/BF03348220
更新日期:1980-01-01 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::Molecular diagnostics of the LHR gene was conducted in a 5-year-old boy with clinical symptoms and hormonal profile typical of precocious puberty. His parents and 4 sisters were also diagnosed. Single-strand conformation polymorphism analysis under temperature gradient conditions (Multitemperature SSCP) of 3 overlappi...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/BF03344001
更新日期:2002-03-01 00:00:00
abstract::Our study previously showed that estrogen and progesterone stimulated the production of matrix metalloproteinase-14 [MMP-14, or also named membrane type matrix metalloproteinses-1 (MT1-MMP)] in osteoblastic cells. MMP-14 was implied to regulate the function of osteoblasts by degrading bone matrix or growth factors, bu...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/BF03345259
更新日期:2003-11-01 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:PURPOSE:Initial surgery for medullary thyroid cancer (MTC) with no evidence of lymph node involvement in neck compartments consists of total thyroidectomy and prophylactic central neck dissection. This study evaluated the reliability of a radiotracer technique for the intraoperative detection of sentinel lymph nodes (S...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/s40618-014-0112-7
更新日期:2014-09-01 00:00:00