Abstract:
:Here we describe a subject with congenital adrenal hyperplasia due to 21-hydroxylase deficiency (21-CAH), in its classical virilizing form, who presented at birth ambiguous genitalia and subsequently was assigned by the parents as male. At the age of 8 years, he underwent a two-step surgical correction of hypospadia and at 22 years old, uterus and ovaries were removed and a bilateral testicular prothesis was surgically placed in scrotum. He refused any chronic glucocorticoid therapy, that was given only acutely to prevent adrenal crises during stress, trauma surgery or severe illness. The patient is now 38 years old, he is genotypically female but phenotypically male, with high endogenous levels of androgen, all of adrenal origin, and with an apparent male sexual life. He had severe osteopenia, probably due to the lack of estrogen/androgen-induced increase in bone mineral density, although periferal estrogen conversion was normal. His skeletal mass, in fact, normally acquired during adolescence and early adult life, could in this case be inefficient, for the precocious pseudopuberty, that caused an inefficient peak bone mass in adolescence period.
journal_name
J Endocrinol Investjournal_title
Journal of endocrinological investigationauthors
Valentino R,Savastano S,Tommaselli AP,Dorato M,Scarpitta MT,Calvanese E,Del Puente A,Lombardi Gdoi
10.1007/BF03343729keywords:
subject
Has Abstractpub_date
2000-05-01 00:00:00pages
317-20issue
5eissn
0391-4097issn
1720-8386journal_volume
23pub_type
杂志文章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:: ...
journal_title:Journal of endocrinological investigation
pub_type: 历史文章,杂志文章
doi:10.1007/s40618-018-0896-y
更新日期:2018-12-01 00:00:00
abstract::Thyroid hormone acts on the oocytes, sperm and embryo during fertilization, implantation and placentation. Both hypothyroidism and hyperthyroidism may influence fertility. However, evidence of the association of hyperthyroidism with infertility is scarce and sometimes conflicting. Thyroid hormone influences human repr...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章,评审
doi:10.1007/s40618-016-0452-6
更新日期:2016-08-01 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:OBJECTIVE:Subcutaneous insulin absorption is one of the key factors affecting glycemic control in patients with diabetes mellitus under insulin therapy. Insulin-induced subcutaneous lipohypertrophy has been reported to impair insulin regular absorption and hence glycemic control. So far, lipohypertrophy diagnosis has o...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/s40618-017-0675-1
更新日期:2017-10-01 00:00:00
abstract::A comparison of peripheral patterns of androstenedione (A), 17 beta-estradiol (E2) and progesterone (P) is reported in ten infertile women during HMG-HCG induction of ovulation, in order to assess the site of ovarian secretion of plasma A and the possible influence on conception. Evidence for both the follicular and l...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/BF03351016
更新日期:1984-08-01 00:00:00
abstract:BACKGROUND:Proliferative activity prediction is important for determining individual treatment strategies for patients with acromegaly, and tumor proliferative activity is usually measured by the expression of Ki-67. OBJECTIVE:This study aimed to assess the value of a magnetic resonance imaging (MRI)-based radiomics a...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/s40618-019-01159-7
更新日期:2020-06-01 00:00:00
abstract::The aim of this study was to determine the protein pattern of human thyroid fine needle aspiration fluid (FNA) using a proteomic approach. FNA proteins were separated using 2-dimensional gel electrophoresis (2DE), digested and then analyzed by peptide mass fingerprinting. For the first time, we provided an image of th...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/BF03349229
更新日期:2007-11-01 00:00:00
abstract::Whole-body vibration is reported to increase muscle performance, bone mineral density and stimulate the secretion of lipolytic and protein anabolic hormones, such as GH and testosterone, that might be used for the treatment of obesity. To date, as no controlled trial has examined the effects of vibration exercise on t...
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/BF03351056
更新日期:2004-04-01 00:00:00
abstract::Nine chronic male alcoholics presenting with hypogonadism but without overt liver failure were examined under baseline conditions and after acute injection of gonadotropin releasing hormone (GnRH, 100 micrograms iv) and thyrotropin releasing hormone (TRH, 200 micrograms iv), performed at 60 min of a 3-h infusion of sa...
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/BF03348339
更新日期:1983-12-01 00:00:00
abstract::The activities of total superoxide dismutase (SOD), glutathione peroxidase (GSH-Px) and catalase (CAT) enzymes were measured in cancerous and non-cancerous adjacent tissues from 15 patients with follicular thyroid cancer containing single nodule. SOD and GSH-Px activities were found lower but malondialdehyde levels hi...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/BF03347868
更新日期:1996-05-01 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::Neurological disorders, such as seizures, are not infrequently associated with anti-leukemic therapy. It has been hypothesized that a disrupted peptidergic transmission between neurons could be the cellular basis of the neurological dysfunction. Since endogenous opioids have been recently found to alter neuronal funct...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/BF03350022
更新日期:1989-10-01 00:00:00
abstract:OBJECTIVE:We developed clinical practice guidelines to assess the individual risk-benefit profile of androgen replacement therapy in adult male hypogonadism (HG), defined by the presence of specific signs and symptoms and serum testosterone (T) below 12 nmol/L. PARTICIPANTS:The task force consisted of eight clinicians...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章,评审
doi:10.1007/s40618-014-0155-9
更新日期:2015-01-01 00:00:00
abstract::The status of the erythrocyte insulin receptor was investigated prior to and during storage at 4C in acid-citrate dextrose (ACD) solution. The receptors on cells that were obtained from both resting and exercised fasting subjects and stored for up to three days in ACD were unchanged as evaluated by both maximal specif...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/BF03347594
更新日期:1983-08-01 00:00:00
abstract::During a multicentric pilot screening program for congenital hypothyroidism a comparison between the results obtained from Urbino, an area characterized by low iodine supply and endemic goiter, and Rome, a non-endemic area, has been made. The evaluation of neonatal urinary iodine excretion in the two areas showed sign...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/BF03350156
更新日期:1988-04-01 00:00:00
abstract:BACKGROUND:Neonatal hypothyroidism has serious effects on growth, development, and metabolism. AIM:This study aims to investigate the effects of the neonatal hypothyroidism on carbohydrate metabolism, islet insulin secretion and morphology of the pancreatic islets in adult male offspring. MATERIALS/SUBJECTS AND METHO...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.3275/8468
更新日期:2013-01-01 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
abstract::Up to now, the diagnosis of silent corticotroph cell pituitary adenomas has been made only on histopathological basis. In this paper we describe 6 women affected with pituitary adenomas, without evident clinical features of hypercortisolism, in whom retrospective data suggested the possibility of clinically diagnosing...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/BF03348769
更新日期:1992-06-01 00:00:00
abstract::Serum testosterone, luteinizing hormone (LH), follicle-stimulating hormone (FSH) and prolactin (PRL) responses to exposure to sea-level altitude (LA) were examined in 13 eugonadal males, age 21-22 yr, 3 and 5 days after residing at LA and on the second day of return to basal altitude 90 days later. After 3 days at the...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/BF03350195
更新日期:1988-09-01 00:00:00
abstract::Several in vivo experimental and clinical studies suggest that the production of thymic hormones, such as thymulin (Zn-FTS), is modulated by thyroid hormones. It was not determined in these studies, however whether such modulation is exerted directly on the thymic epithelial cells which synthesize and secrete thymic h...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/BF03349524
更新日期:1990-02-01 00:00:00
abstract::Thyrotropin binding characteristics and adenylate cyclase (AC) activity of thyroid plasma membranes were studied in 52 tissues from normal and diseased human thyroids. Data from normal glands, Graves' goiters, non toxic multinodular goiters and nodular and perinodular tissue of toxic nodular goiters show the same basa...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/BF03350977
更新日期:1978-10-01 00:00:00
abstract:PURPOSE:Although a nation-wide salt iodization program on voluntary basis was implemented in 2005, many areas in our country are still characterized by mild iodine deficiency. Differently from the rest of Italy, an efficient program of iodine prophylaxis was implemented in 1981 in the Autonomous Province of Bolzano. Th...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/s40618-014-0206-2
更新日期:2015-02-01 00:00:00
abstract::Signals that determine skeletal cell fate, function and apoptosis are critical to normal bone remodeling. Skeletal cells synthesize growth factors; some regulate cell replication, others regulate osteoblastic differentiation. Bone morphogenetic proteins (BMP) and Wnts induce the differentiation of mesenchymal cells to...
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::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:UNLABELLED:ABSTRACT. Several data show that meal intake and nutritional status regulate circulating ghrelin concentrations in humans. Ghrelin mainly circulates in two different forms: octanoyl and des-octanoyl ghrelin. Most circulating ghrelin is des-octanoyl ghrelin which is considered inactive because it lacks endocr...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:
更新日期:2004-05-01 00:00:00
abstract:BACKGROUND:Bone marrow mesenchymal stem cells (MSC) mediate their protection by paracrine mechanism under ischemic conditions and anoxic pre-conditioning (AP) of MSC strongly enhances their survival and regenerative capacity. However, there is no report about the therapeutic potency of MSC transplantation on diabetic c...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/BF03345575
更新日期:2008-02-01 00:00:00
abstract::In testicular descent to the scrotum, a multistep process, many anatomical and hormonal factors play a role. Cryptorchidism occurs in about 1-2% of males and may cause secondary degeneration of the testes. Animal models have shown that abnormalities, in the calcitonin gene-related peptide (CgRP) activity, could be rel...
journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
doi:10.1007/BF03347519
更新日期:2004-09-01 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: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