Abstract:
CONTEXT:McCune-Albright syndrome (MAS) is a disorder caused by a post-zygotic gain-of-function mutation in the gene encoding the Gs-alpha protein. Sexual precocity, common in girls, has been reported in only 15% of boys, and little is known on the long-term evolution of MAS in males. OBJECTIVE:In a boy with MAS, we studied spermatogenesis, testis histology, and immunohistochemistry with the aim to shed light on seminiferous tubule activity. DESIGN:A boy who presented at the age of 2.9 years with sexual precocity, monolateral macroorchidism, increased testosterone levels, and suppressed gonadotropins was followed up until the age of 18. RESULTS:Throughout follow-up testicular asymmetry persisted and gonadotropin and testosterone pattern did not change. At the age of 18, inhibin B was undetectable while alpha-immunoreactive inhibin was within normal range. Anti-Mullerian hormone level was slightly subnormal. Sperm cells were 3,900,000 per ejaculate. Histology of both testes showed spermatogonia, spermatocytes, and, in some tubes, matured spermatozoa. Sertoli cells were markedly stained with anti-inhibin alpha-subunit antibody in both the testes. There was no immunostaining of Sertoli, Leydig, or germ cells with anti-betaA or anti-betaB antibody. MAS R201H mutation was identified in both the testes. CONCLUSION:The 15-year follow-up in this boy with MAS demonstrated that autonomous testicular activation and gonadotropin suppression persisted over time. This provides an interesting model of active spermatogenesis despite long-term FSH suppression. It also suggests that FSH is needed for the full expression of the inhibin betaB-subunit gene, an expression previously reported in the germ and Leydig cells of normal adult subjects.
journal_name
Eur J Endocrinoljournal_title
European journal of endocrinologyauthors
De Luca F,Mitchell V,Wasniewska M,Arrigo T,Messina MF,Valenzise M,de Sanctis L,Lahlou Ndoi
10.1530/EJE-07-0494subject
Has Abstractpub_date
2008-06-01 00:00:00pages
921-7issue
6eissn
0804-4643issn
1479-683Xpii
158/6/921journal_volume
158pub_type
杂志文章abstract:OBJECTIVE:Prevalence of non-alcoholic fatty liver disease (NAFLD) among children is increasing dramatically. It is unclear why some patients develop steatohepatitis (NASH), fibrosis and cirrhosis from steatosis, and others do not. A role for leptin has been claimed. This study aims to evaluate the relationship between ...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.1.02288
更新日期:2006-11-01 00:00:00
abstract:OBJECTIVE:Depot GnRH agonists are commonly used in the treatment of central precocious puberty (CPP). The triptorelin 11.25 mg 3-month depot, currently used in adult indications, had not previously been evaluated in CPP. DESIGN:This was a multicenter, open-label, 12 month trial conducted in 64 CPP children (54 girls a...
journal_title:European journal of endocrinology
pub_type: 临床试验,杂志文章,多中心研究
doi:10.1530/eje.1.02056
更新日期:2006-01-01 00:00:00
abstract:OBJECTIVE:Medullary thyroid carcinoma (MTC) occurs sporadically in 75% of patients. Metastatic disease is associated with significantly poorer survival. The aim of this study was to identify prognostic markers for progressive MTC and oncogenic factors associated with response to vandetanib therapy. DESIGN AND METHODS:...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/EJE-16-0252
更新日期:2016-09-01 00:00:00
abstract:OBJECTIVE:The evidence that stress may provoke Graves' hyperthyroidism in genetically susceptible subjects is substantial. Whether exposure to stress is related to the severity of thyrotoxicosis has not been studied. Advancing age is associated with not only less severe Graves' hyperthyroidism but also self-reported st...
journal_title:European journal of endocrinology
pub_type: 杂志文章,多中心研究
doi:10.1530/EJE-08-0573
更新日期:2009-02-01 00:00:00
abstract::none. ...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/EJE-20-1426
更新日期:2021-01-01 00:00:00
abstract:OBJECTIVE:To assess the LH response of the pituitary gland to GnRH stimulation in healthy women with a mutant beta-subunit (Trp8 to Arg8 and Ile15 to Thr15). DESIGN:Clinical study. PATIENTS:We studied 40 healthy non-pregnant Japanese women of known zygosity for the LH beta-subunit gene (3 homozygotes for the mutant g...
journal_title:European journal of endocrinology
pub_type: 临床试验,杂志文章
doi:10.1530/eje.0.1430375
更新日期:2000-09-01 00:00:00
abstract::It is well known that normal and mildly elevated luteinizing hormone (LH) levels induce increased activity of ovarian 17-hydroxylase and 17,20-lyase, the cytochrome P450cl7alpha (P450) enzymes. This leads to increased ovarian 17alpha-hydroxyprogesterone (17-OHP) and androstenedione production. In contrast, it has been...
journal_title:European journal of endocrinology
pub_type: 临床试验,杂志文章
doi:10.1530/eje.0.1390304
更新日期:1998-09-01 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:OBJECTIVE:Multiple types of voltage-activated Ca(2+) channels (T, L, N, P, Q and R type) coordinate a variety of Ca(2+)-dependent processes in neurons and neuroendocrine cells. In insulinoma cell lines as well as in endocrine tissues, the non-L-type alpha1E (Ca(v)2.3) subunit is expressed as the tissue-specific splice ...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.0.1460881
更新日期:2002-06-01 00:00:00
abstract:BACKGROUND:Some cases of apparently idiopathic GH deficiency (GHD) may be caused by pituitary autoimmunity. OBJECTIVE:To study the variations in pituitary function and antipituitary antibodies (APA) from childhood to transition age in patients with apparently idiopathic GHD. DESIGN:We conducted a longitudinal study. ...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/EJE-15-0766
更新日期:2016-03-01 00:00:00
abstract:BACKGROUND:The aim was to evaluate changes of bone mineral density (BMD) and markers of bone turnover in healthy adolescents, and in adolescent users of combined oral contraceptives (COCs) with different ethinylestradiol (EE) contents. METHODS:In this prospective crossover study, 56 healthy females (15-19.5 years) wit...
journal_title:European journal of endocrinology
pub_type: 杂志文章,随机对照试验
doi:10.1530/EJE-11-1047
更新日期:2012-06-01 00:00:00
abstract:BACKGROUND AND OBJECTIVES:Testicular Leydig cell tumours (LCTs) are rare, steroid-secreting tumours. Elevated levels of aromatase (CYP19 or CYP19A1) mRNA have been previously described in LCTs; however, little is known about the mechanism(s) causing CYP19 over-expression. We report an LCT in a 29-year-old male with ele...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/EJE-11-0849
更新日期:2012-05-01 00:00:00
abstract::The initial management of large non-functioning pituitary adenomas is surgical debulking. In some cases, postoperative radiotherapy (RT) is administered in order to reduce the likelihood of tumour regrowth. Historically, there have been concerns surrounding a number of potentially significant complications of pituitar...
journal_title:European journal of endocrinology
pub_type: 杂志文章,评审
doi:10.1530/eje.0.1440569
更新日期:2001-06-01 00:00:00
abstract::Objective To explore whether gestational prolactin and breast increase are markers of metabolic health in pregnancy and on long-term, in PCOS. Design Follow-up study. Women with PCOS, according to the Rotterdam criteria (n = 239), former participants of the randomized controlled trial (RCT) PregMet were invited, 131 p...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/EJE-19-0002
更新日期:2019-06-01 00:00:00
abstract::Tumor necrosis factor-alpha (TNF-alpha) exerts various effects on many cell types. Acute administration of TNF-alpha to rats decrease hepatic 5'-deiodinase activity (5'D-I) and TNF-alpha has been implicated in the pathogenesis of the low triiodothyronine syndrome in non-thyroidal illness in humans. The thyroid, liver ...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.0.1300502
更新日期:1994-05-01 00:00:00
abstract::We report the clinical history and results of endocrine investigations in two brothers born to consanguineous parents, who presented with hypokalemia and arterial hypertension when they were aged 2 and 6 years. The hormonal serum assay results, including extremely low values for aldosterone and plasma renin activity, ...
journal_title:European journal of endocrinology
pub_type: 杂志文章,评审
doi:10.1530/eje.0.1350238
更新日期:1996-08-01 00:00:00
abstract:OBJECTIVE:Endoscopic ultrasound (EUS) is a highly reliable procedure to localize insulinomas preoperatively. It has been considered to be important in planning surgical strategy, especially considering a minimal invasive approach. However, even under ideal conditions experienced examiners miss about 10-20% of insulinom...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/EJE-07-0117
更新日期:2007-08-01 00:00:00
abstract:OBJECTIVE:To investigate the relationship between resistin (a potential link between obesity and type 2 diabetes) and preadipocyte differentiation. DESIGN:A rat resistin expression vector was transfected into 3T3-L1 preadipocytes and differentiation was compared between normal 3T3-L1 cells, rat resistin-transfected ce...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.0.1500885
更新日期:2004-06-01 00:00:00
abstract:OBJECTIVE:Hyperthyroidism in rats produces organ hypertrophy and increases in circulating IGF-I and IGF-binding protein (IGFBP)-3. Chronic treatment with thyroxine (T(4)) during pregnancy advances parturition, blocks lactation and changes several hormone receptors in mammary gland and liver. Since IGFs are implicated i...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.0.1460729
更新日期:2002-05-01 00:00:00
abstract::Endogenous pathologic hypercortisolism, or Cushing's syndrome, is associated with poor quality of life, morbidity, and increased mortality. Early diagnosis may mitigate against this natural history of the disorder. The clinical presentation of Cushing's syndrome varies, in part related to the extent and duration of co...
journal_title:European journal of endocrinology
pub_type: 杂志文章,评审
doi:10.1530/EJE-15-0464
更新日期:2015-10-01 00:00:00
abstract:BACKGROUND:The presence of virilizing signs associated with high serum androgen levels in postmenopausal women is rare. Virilizing ovarian tumors (VOTs) and ovarian stromal hyperthecosis (OH) are the most common etiologies in virilized postmenopausal women. The differential diagnosis between these two conditions is oft...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/EJE-17-0111
更新日期:2017-07-01 00:00:00
abstract:OBJECTIVE:To determine the benefit of periodical clinical screening of carriers of a mutation in the multiple endocrine neoplasia type 1 (MEN-1) gene, because any useful discussion requires more concrete data. DESIGN AND METHODS:Our study population consisted of all the patients with MEN-1 (n=58) who were treated at t...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.0.1490577
更新日期:2003-12-01 00:00:00
abstract:Objective:Children with Prader-Willi syndrome (PWS) have mild to moderate cognitive impairment. Short-term studies showed positive effects of growth hormone (GH) on cognitive development. This study investigated the effects of 8 years of GH on cognitive development in children with PWS. We also investigated whether sta...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/EJE-19-0479
更新日期:2020-04-01 00:00:00
abstract:OBJECTIVE:Very few previous studies have compared the degree of health-related quality of life (HRQL), depression and anxiety of differentiated thyroid cancer patients (DTC) under short-term hypothyroid-ism and levothyroxine treatment. METHODS:Using patient-completed instruments, we examined the frequency of physical ...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.1.02047
更新日期:2005-12-01 00:00:00
abstract::To study interactions between insulin-like growth factor-II (IGF-II) and growth hormone (GH) in vivo, we crossed hemizygous transgenic mice carrying phosphoenolpyruvate carboxykinase (PEPCK)-IGF-II fusion genes with hemizygous PEPCK-bovine GH (bGH) transgenic mice. Offspring harbouring both transgenes (IB), the IGF-II...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.0.1370701
更新日期:1997-12-01 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::Stem cell terminology has entered the lexicon of medical practitioners even though the application of harvesting stem cells to treat diseases other than haematological disorders is not yet a reality in clinical practice. All branches of medicine will be affected by the new technology, more so those related to regenera...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.0.151u003
更新日期:2004-11-01 00:00:00
abstract:BACKGROUND:Cranial radiation therapy (CRT) is required for successful treatment of a variety of brain tumours in childhood. OBJECTIVE:To investigate whether childhood CRT leads to altered sleep-wakefulness organization in adulthood, and to identify the determinants of such alterations. SUBJECTS AND METHODS:Subjective...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.0.1500503
更新日期:2004-04-01 00:00:00
abstract::Vasoactive and angiogenic factors are involved in the autocrine/paracrine thyroid regulation of microvascular bed during goiter development. In the thyroid of old mice, the presence of slowly functioning ('cold') follicles allowed us to study the microvascular regulation of each follicle in correlation with the immuno...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.0.1420651
更新日期:2000-06-01 00:00:00
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