Abstract:
:The syndrome of apparent mineralocorticoid syndrome (AME) results from defective 11beta-hydroxysteroid dehydrogenase 2 (11beta-HSD2). This enzyme is co-expressed with the mineralocorticoid receptor (MR) in the kidney and converts cortisol to its inactive metabolite cortisone. Its deficiency allows the unmetabolized cortisol to bind to the MR inducing sodium retention, suppression of PRA and hypertension. Thus, the syndrome is a disorder of the kidney. We present here the first patient affected by AME cured by kidney transplantation. Formerly, she was considered to have a mild form of the syndrome (Type II), but progressively she developed renal failure which required dialysis and subsequent kidney transplantation. To test the ability of the transplanted kidney to normalise the patient's cortisol metabolism, we gave, in two different experiments, 25 and 50 mg/day of cortisone acetate or 15 and 30 mg/day of cortisol after inhibition of the endogenous cortisol by synthetic glucocorticoid (methylprednisolone and dexamethasone). The AME diagnostic urinary steroid ratios tetrahydrocortisol+5alphatetrahydrocortisol/tetrahydrocortisone and cortisol/cortisone were measured by gas chromatography/mass spectrometry. Transplantation resulted in lowering blood pressure and in normalization of serum K and PRA. After administration of a physiological dose of cortisol (15 mg/day), the urinary free cortisol/cortisone ratio was corrected (in contrast to the A-ring reduced metabolites ratio), confirming that the new kidney had functional 11beta-HSD2. This ratio was abnormally high when the supra-physiological dose of cortisol 30 mg/day was given. After cortisone administration, the tetrahydrocortisol+5alphatetrahydrocortisol/tetrahydrocortisone ratio resulted normalised with both physiological and supra-physiological doses, confirming that the hepatic reductase activity is not affected. As expected, the urinary free cortisol/cortisone ratio was normal with physiological, but increased after supra-physiological doses of cortisone. The described case indicates a normalisation of cortisol metabolism after kidney transplantation in AME patient and confirms the supposed pathophysiology of the syndrome. Moreover, it suggests a new therapeutic strategy in particularly vulnerable cohorts of patients inadequately responsive to drug therapy or with kidney failure.
journal_name
J Endocrinol Investjournal_title
Journal of endocrinological investigationauthors
Palermo M,Delitala G,Sorba G,Cossu M,Satta R,Tedde R,Pala A,Shackleton CHdoi
10.1007/BF03343755keywords:
subject
Has Abstractpub_date
2000-07-01 00:00:00pages
457-62issue
7eissn
0391-4097issn
1720-8386journal_volume
23pub_type
杂志文章abstract:BACKGROUND:Results of circulating Ghrelin levels in hyper- or hypothyroidism are conflicting and only overt thyroid dysfunction has been evaluated. AIM:To evaluate in a large number of patients with thyroid disfunction whether: a) hyper- and hypothyroidism (clinical or subclinical) are associated with variations in bo...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/BF03345683
更新日期:2009-01-01 00:00:00
abstract:INTRODUCTION:Insulinomas are a rare type of pancreatic neuroendocrine tumours characterized by insulin hypersecretion. They are considered malignant when metastases are present. Traditional therapies often promote only temporarily symptomatic relief and may be associated with severe adverse effects. There is scarce exp...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章,评审
doi:10.1007/s40618-018-0911-3
更新日期:2019-03-01 00:00:00
abstract::We studied the effects of high doses of methimazole (MMI) or propylthiouracil (PTU) on thyroid-stimulating antibody (TSAb), antithyroid microsomal (MCHA) and antithyroglobulin (TGHA) levels in Graves' disease and Hashimoto's thyroiditis. Thirty Graves' hyperthyroid patients were treated for 14 +/- 8 months (mean +/- S...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/BF03348107
更新日期:1986-06-01 00:00:00
abstract::An equimolar mixture of 3H-E1-S2 and 14C-E1 was injected in one shot into the inferior vena cava near the heart of female Japanese monkey. Following the injection, blood was collected from the aortic arch at intervals of 15 s over a period of 10 min. The concentration of radioactivities in the whole blood and serum wa...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/BF03348447
更新日期:1984-10-01 00:00:00
abstract::Bone matrix is composed mainly of inorganic materials, while the bone organic compartment is a minor and complex structural entity, surrounding and supporting cells. Three major classes of biomolecules are involved in this organic part: structural proteins, specialized proteins, and proteoglycans. This review will bri...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章,评审
doi:
更新日期:2010-01-01 00:00:00
abstract:PURPOSE:Polycystic ovary syndrome (PCOS) is a common heterogeneous endocrine disorder companied with neuroendocrine and metabolic disorders. Gut microbiota has been implicated to play a key role in metabolic diseases and the production of neurotransmitters. Previous studies have reported the alterations in the gut micr...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/s40618-020-01481-5
更新日期:2021-01-02 00:00:00
abstract:PURPOSE:Intravenous glucocorticoids (ivGCs) given as 12-weekly infusions are the first-line treatment for moderate-to-severe and active Graves' orbitopathy (GO), but they are not always effective. In this study, we evaluated whether response at 6 weeks correlated with outcomes at 12 (end of intervention) and 24 (follow...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/s40618-017-0608-z
更新日期:2017-05-01 00:00:00
abstract::ACTH, beta lipotropin (beta LPH), beta endorphin (beta EP), Prolactin (PRL) and Cortisol were measured in the first five days of puerperium at 9:00, before and 30 minutes after suckling, in 7 healthy lactating women. With the exception of PRL plasma levels which decline, although remaining at high concentrations durin...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/BF03350534
更新日期:1982-11-01 00:00:00
abstract::Serial weekly serum samples (for 3 weeks) were obtained from 42 patients with differentiated thyroid cancer (DTC, papillary no.=35, follicular no.=6, Hurthle cell no.=1) for serum thyroid hormone, TSH and TG before and after total thyroidectomy. Serum specimens were also obtained one month after radioiodine (131I) the...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/BF03343973
更新日期:2002-02-01 00:00:00
abstract:BACKGROUND AND AIMS:C-reactive protein (CRP) is an inflammatory marker that predicts coronary heart disease (CHD) risk. Diabetes mellitus (DM) counts as a CHD risk equivalent. We aimed to compare serum high sensitivity CRP (hs-CRP) levels in Type 2 diabetic (T2DM) men without CHD, non-diabetic CHD patients and T2DM pat...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/BF03345357
更新日期:2005-02-01 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: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::GH response to an iv bolus of growth-hormone-releasing hormone (GHRH 1-44, 2 micrograms/kg iv) was evaluated in 17 prepubertal children with total GH deficiency (GHD), 6 with partial GHD and in 7 prepubertal normal but short children tested as control. GH response to conventional pharmacological (insulin and arginine ...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/BF03346976
更新日期:1986-12-01 00:00:00
abstract::Six-day treatment of neonatal rats with T3 or T4 resulted in a considerable depression of T4 production in response to exogenous TSH in adulthood. This supports the hypothetical conclusion that hormonal imprinting, i.e. the presence of the hormone and its interaction with the cell during the period of receptor maturat...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/BF03348561
更新日期:1985-12-01 00:00:00
abstract:PURPOSE:Primary hyperparathyroidism has deleterious effects on health and causes nephrolithiasis and osteoporosis. However, it remains unclear whether parathyroidectomy benefits kidney function among patients with primary hyperparathyroidism. METHODS:In this retrospective study, patients with primary hyperparathyroidi...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/s40618-020-01369-4
更新日期:2020-07-29 00:00:00
abstract::A 34-yr-old nulliparous black woman presented with hair loss, facial hirsutism, irregular menses and infertility associated with greatly increased serum total testosterone levels. The adrenal glands and the ovaries were normal on radiological and ultrasonographic investigation. Catheterization of the veins draining fr...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/BF03348033
更新日期:1997-12-01 00:00:00
abstract::The aim of the study was to assess iodine status in over 3800 young male subjects aged 18, living in 6 different provinces of Piemonte and in Aosta Valley, Italy. A cross-sectional study on 3837 young male subjects undergoing medical evaluation preliminary to military enrolment was performed. Spot urine samples were o...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/BF03349155
更新日期:2003-12-01 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::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::We report here on the isolation and repertoire characterization of a Graves' thyroid T cell population which, unlike most Graves' thyroid T cell isolates reported before, was rich in CD4-CD8- T cells (16%, all TcR gamma delta+) and CD8+ T cells (75%) [TcR alpha beta+ (59%) and TcR gamma delta+ (16%)]. Only 7% of the i...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/BF03348958
更新日期:1993-12-01 00:00:00
abstract::It has previously been suggested that ghrelin mediates GH-independent biologic activities on the heart. We investigated the acute effects on cardiac contraction of a single iv administration of human ghrelin (in a dose of 1 microg/kg) in severe untreated GH deficient subjects. Prior to the ghrelin infusion, an echocar...
journal_title:Journal of endocrinological investigation
pub_type: 临床试验,杂志文章
doi:10.1007/BF03347499
更新日期:2004-07-01 00:00:00
abstract::We herein describe a family with thyroid hormone resistance. Thyroid hormones and basal TSH were elevated. Pituitary tumor or abnormality in thyroid hormone binding proteins were ruled out by appropriate tests. Mother and sister of the propositus presented similar abnormal hormonal features but no hyperthyroidism. Ini...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/BF03347890
更新日期:1991-09-01 00:00:00
abstract:BACKGROUND:Cadmium (Cd) is a widespread environmental pollutant that causes alterations in human health acting as endocrine disruptor. Recent data suggest that cardiovascular system might be a contamination target tissue, since Cd is found in atheromatic plaques. Thus, the purpose of this study was to evaluate the cons...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/s40618-018-0982-1
更新日期:2019-06-01 00:00:00
abstract::Fifty-seven (35.6%) of 160 patients with papillary thyroid carcinoma had lymph node metastases at the primary treatment. Children and adolescents were most frequently affected (69.2%), followed by the age group of 21-40-year olds (38.8%). Those older than 40 had the lowest incidence of lymph node metastases (29.6%; p ...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/BF03346863
更新日期:1991-07-01 00:00:00
abstract:PURPOSE:Leptin is associated with cardiovascular risk factors (e.g. hypertension, insulin resistance, kidney disease and excess body weight). Experimental studies showed that leptin might affect serum uric acid, by modulation of the uric acid excretion. However, there are few observational data on the relationship betw...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/s40618-019-01140-4
更新日期:2020-05-01 00:00:00
abstract::Seventy-one white women within 6 months to 6 years postmenopause were randomly assigned to three treatment groups: (a) placebo, (b) calcium, (c) cyclic estrogen-progestin plus calcium. Calcium was given as calcium carbonate with meals to attain an intake of 1,700 mg daily in the latter two groups. All women received 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/BF03347118
更新日期:1991-12-01 00:00:00
abstract::The occurrence of tumors originating from aberrant adrenocortical tissue in ectopic site is very rare. Up to now only two cases of ectopic aldosterone-producing adenoma have been described. We have observed another case of ectopic aldosteronoma, located in the retrocaval region, laterally to the body of the 12th thora...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/BF03349816
更新日期:1995-11-01 00:00:00
abstract::The physiological pulsatile secretion of GH in humans might be important for the metabolic effects of GH. In the treatment of GH-deficient (GHD) patients, the most common regimen is a single sc injection at bedtime. It has not been completely established if this is the optimal mode of GH administration during long-ter...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章,随机对照试验
doi:10.1007/BF03349206
更新日期:2006-12-01 00:00:00
abstract::The present experiments were undertaken to study the effect of complete food removal on body weight, pituitary growth hormone (GH), plasma GH and glucose concentration in male and female Wistar rats. Plasma and pituitary GH levels were measured by means of a specific radioimmunoassay. Plasma glucose concentration decr...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/BF03349417
更新日期:1981-01-01 00:00:00
abstract::The genetic factors determining bone mineral density (BMD) are not well characterized. Many studies have investigated the relationship between the fokI polymorphism of vitamin D receptor (VDR) gene in diverse populations and gender, resulting in conflicting outcomes. Because peak bone mass in men is closely related to...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/BF03347571
更新日期:2005-10-01 00:00:00