Abstract:
:Two brothers of Greek Cypriot origin, karyotype 46 XY, aged 17 and 19 years were brought up as females because of predominantly female external genitalia with clitoromegaly and urogenital sinus. At puberty there was genital masculinization with testicular enlargment and descent and development of male musculature and body habitus without gynaecomastia. Both subjects acquired male gender identity and changed from a female to a male gender role. The internal genitalia were normally formed with an ejaculate containing mature spermatozoa. In both subjects plasma testosterone levels were slightly elevated, dihydrotestosterone was in the low normal range and the plasma testosterone to dihydrotestosterone ratio was markedly elevated. Plasma oestrogens were normal whereas SHBG binding capacity was elevated. The urinary 5 beta-aetiocholanolone to 5 alpha-androsterone ratios were elevated compared with normal subjects. Basal plasma LH was normal but, the LH response to LHRH was exaggerated and basal and peak plasma levels of FSH were elevated. 5 alpha-reductase activity in genital skin homogenates was higher when androstenedione was used as a substrate, compared with testosterone, suggesting a decreased affinity of the enzyme for testosterone. The clinical and hormonal features in the two siblings are consistent with an impaired peripheral conversion of testosterone to dihydrotestosterone due to deficiency of the enzyme 5 alpha-reductase.
journal_name
Clin Endocrinol (Oxf)journal_title
Clinical endocrinologyauthors
Savage MO,Preece MA,Jeffcoate SL,Ransley PG,Rumsby G,Mansfield MD,Williams DIdoi
10.1111/j.1365-2265.1980.tb02727.xsubject
Has Abstractpub_date
1980-04-01 00:00:00pages
397-406issue
4eissn
0300-0664issn
1365-2265journal_volume
12pub_type
杂志文章abstract::Headache is very common in pituitary disease and is reported to be present in more than a third of all patients with pituitary adenomas. Tumour size, cavernous sinus invasion, traction or displacement of intracranial pain-sensitive structures such as blood vessels, cranial nerves and dura mater, and hormonal hypersecr...
journal_title:Clinical endocrinology
pub_type: 杂志文章,评审
doi:10.1111/cen.12314
更新日期:2013-12-01 00:00:00
abstract::We designed a systematic study of patients with Cushing's disease to compare the results of acute experiments with cyproheptadine, sodium valproate and bromocriptine with the results of chronic treatment with sodium valproate. In 13 patients the plasma cortisol response to single doses of 2.5 mg bromocriptine, 6 mg cy...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1986.tb03621.x
更新日期:1986-12-01 00:00:00
abstract:BACKGROUND:The intensive physical activity is often associated with cardiac changes. OBJECTIVES:(i) To evaluate the IGF-I system and myocardial structure and function by standard Doppler echocardiography and Tissue Doppler in athletes and sedentary controls; and (ii) to determine any relationship between IGF-I system ...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.2008.03177.x
更新日期:2008-08-01 00:00:00
abstract::Serum prolactin concentrations have been measured at 15 min intervals for 2 h on 240 occasions in 227 patients with symptoms which could have been due to hyperprolactinaemic gonadal dysfunction. Of the 227, 138 had at least one elevated random prolactin level. Overall, 22% showed no significant fluctuation in prolacti...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1981.tb00625.x
更新日期:1981-04-01 00:00:00
abstract:OBJECTIVE:Androgens have paradoxically different effects on hair follicles depending on body site, stimulating beard growth while inducing regression in some areas of the scalp. The mesenchyme derived dermal papilla at the base of the hair follicle regulates many aspects of the growth of follicular epithelium, and is p...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1993.tb02420.x
更新日期:1993-12-01 00:00:00
abstract:BACKGROUND:Graves' Ophthalmopathy (GO) is a complex eye and orbital disorder that is uniquely linked to Graves' Hyperthyroidism (GH) and has traditionally been considered a cross-reactive immune response against the thyroid stimulating hormone receptor (TSHR) in orbital tissue. However, because there is no direct evide...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.2009.03753.x
更新日期:2010-10-01 00:00:00
abstract::The nature of the thyroid disorder presented by patients with normal T4 and T3 but blunted TSH response to TRH has not been clarified. In this study, we compared thyroid function tests in 16 such patients with those of 14 controls and 10 hyperthyroid patients. Basal total T4, free T4, total T3, iodine uptake and chole...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1986.tb03612.x
更新日期:1986-11-01 00:00:00
abstract:OBJECTIVE:The diagnostic impact of chromogranin A (CgA) measurement has been studied in various neuroendocrine tumours (NET) such as pheochromocytomas, gastrinomas and neuroblastomas. Clinically nonfunctioning pituitary adenomas (NFPA) are generally diagnosed on tumoural symptoms or hypopituitarism and, except for gona...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1046/j.1365-2265.2003.01902.x
更新日期:2003-11-01 00:00:00
abstract::Seven synthetic analogues of somatostatin helped clarify structural requirements for suppression of growth hormone secretion in rats. Size of the ring is not critical; deletions of serine-13, lysine-4 or asparagine-5 result in peptides which retain an appreciable fraction of the activity. The analogue des-Ala1, Gly2, ...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1976.tb03835.x
更新日期:1976-01-01 00:00:00
abstract::A recently developed radioimmunoassay for direct measurement of 18-hydroxycortisol (18-OH-F) in plasma and urine has been used to study the physiology of this newly described steroid in normal subjects. Plasma levels of 18-OH-F show a circadian variation similar to that of cortisol and are increased and suppressed by ...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1985.tb01118.x
更新日期:1985-11-01 00:00:00
abstract::In 44 patients with acromegaly treated by transsphenoidal pituitary microsurgery, the relationship between changes in pre- and post-operative GH dynamics and postoperative fasting plasma GH levels was examined to clarify which is the optimal approach for evaluating postoperative removal of the tumour. TRH, LHRH and br...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1986.tb01677.x
更新日期:1986-08-01 00:00:00
abstract:OBJECTIVE:A recent report showing disappointingly low sensitivity and specificity for the oral high dose dexamethasone test in the differential diagnosis of Cushing's syndrome prompted us to re-evaluate the results obtained in our centre using the continuous 7-hour intravenous dexamethasone suppression test for this pu...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1046/j.1365-2265.1999.00759.x
更新日期:1999-08-01 00:00:00
abstract::Delayed puberty is defined arbitrarily on the basis of statistical consideration, when no signs of puberty have occurred at 2.0 SD (13.4 years in girls and 13.8 in boys) above the mean chronological age for the onset of puberty. The vast majority of these patients have no endocrine abnormality and their pubertal devel...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1995.tb01899.x
更新日期:1995-07-01 00:00:00
abstract:OBJECTIVE:We examined the contributions of growth hormone (GH) and insulin-like growth factor-I (IGF-I) to insulin sensitivity and beta-cell function in acromegaly. DESIGN:A cross-sectional study was used with continuous infusion of glucose with model assessment to determine insulin sensitivity and beta-cell function....
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1992.tb02902.x
更新日期:1992-01-01 00:00:00
abstract:OBJECTIVES:Graves' disease (GD) complicates 0.1% to 0.2% of pregnancies, but congenital thyrotoxicosis is rare occurring in one in 70 of these pregnancies independent of maternal disease status. Antenatal prediction of affected infants is imprecise; however, maternal history, coupled with a high maternal serum TSH rece...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1046/j.1365-2265.2001.01173.x
更新日期:2001-03-01 00:00:00
abstract::The effects of equivalent doses of two inhibitors of the 3-beta-hydroxy steroid dehydrogenase enzyme system--WIN 24540 (trilostane) and WIN 32729--on the secretion of progesterone in early human pregnancy are described. Patients and controls less than 12 weeks pregnant were given a single dose of either drug and the r...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1983.tb00027.x
更新日期:1983-10-01 00:00:00
abstract:OBJECTIVE:We aimed to evaluate and contrast the hypothalamo-pituitary-adrenal (HPA) response to direct current (DC) cardioversion and electroconvulsive therapy (ECT). SUBJECTS:Six male subjects (mean age 61.2 years, range 46-74) with chronic atrial fibrillation were selected for cardioversion. Six subjects with depres...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1046/j.1365-2265.1996.642464.x
更新日期:1996-02-01 00:00:00
abstract:BACKGROUND AND OBJECTIVE:Growth hormone treatment in children with idiopathic short stature (ISS) leads to growth acceleration in the first years, but the effect on final height is still poorly documented. We therefore studied the long-term effect of GH therapy in children with idiopathic short stature. DESIGN:We have...
journal_title:Clinical endocrinology
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1111/j.1365-2265.1995.tb02644.x
更新日期:1995-04-01 00:00:00
abstract::Vasoactive intestinal peptide (VIP) is a highly basic 28 amino-acid peptide which was first isolated from porcine small intestine (Said & Mutt, 1970). It is related to several other peptides including PHI (peptide with N-terminal histidine and C-terminal isoleucine amide), secretin, glucagon, and has some sequences si...
journal_title:Clinical endocrinology
pub_type: 杂志文章,评审
doi:10.1111/j.1365-2265.1988.tb03716.x
更新日期:1988-12-01 00:00:00
abstract:OBJECTIVE:Diagnosing thyroid nodules preoperatively using traditional diagnostic tools - ultrasonography (US) and cytology - still carries a considerable degree of uncertainty, and surgery is recommended for a far from negligible number of patients simply for diagnostic purposes. Thyroid elastosonography (USE) and BRAF...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.2012.04427.x
更新日期:2012-10-01 00:00:00
abstract::Thirteen normal children, seven males and six females, during early puberty (I-II according to Tanner), have been studied. Each subject was injected at weekly intervals and in random order with 100 micrograms of LHRH, 0.2 mg/kg of naloxone and 0.9% saline in single bolus. The gonadotrophin response was evaluated. The ...
journal_title:Clinical endocrinology
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1111/j.1365-2265.1984.tb00086.x
更新日期:1984-03-01 00:00:00
abstract:OBJECTIVE:To study circulating adiponectin concentrations in relation to diabetes duration and endogenous insulin secretion in patients with type 1 diabetes. PATIENTS:Patients with haemoglobin A1c (HbA1c) < 6% (reference range 3.6-5.4%) were selected for the study. Twenty-two men and 24 women [age 41.3 +/- 13.8 years ...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.2006.02666.x
更新日期:2006-12-01 00:00:00
abstract:BACKGROUND:Type 1 diabetes mellitus (T1DM) is associated with skeletal fragility. While previous meta-analyses have demonstrated an increased risk of fracture in individuals with T1DM, little is known about fracture risk in T1DM, in the absence of age-related confounders. AIMS:To determine the risk of fracture in youn...
journal_title:Clinical endocrinology
pub_type: 杂志文章,meta分析,评审
doi:10.1111/cen.13761
更新日期:2018-09-01 00:00:00
abstract:OBJECTIVE:TSH suppression therapy has been reported to be effective in some cases of papillary carcinoma of the thyroid. However, there has been little information regarding the status of expression of TSH-R mRNA in papillary carcinomas. Therefore, we examined the expression of TSH receptor (TSH-R) mRNA in thyroid tumo...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:
更新日期:1996-03-01 00:00:00
abstract:OBJECTIVE:To study the mechanism through which mifepristone interrupts folliculogenesis. DESIGN:Normally ovulating women undergoing donor intrauterine insemination (IUI) treatment were investigated during two menstrual cycles treated with gonadotrophins. In the first cycle (FSH cycle), the women were given 150 IU reco...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1046/j.1365-2265.1997.1290951.x
更新日期:1997-03-01 00:00:00
abstract::Sleep history and pituitary function were studied and sleep polygraphy performed in 11 acromegalic patients before and after pituitary surgery. Excessive daytime sleepiness or habitual snoring or both together, as well as an elevated fasting level of serum GH occurred in all the patients. In five men but in none of th...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1987.tb02947.x
更新日期:1987-12-01 00:00:00
abstract:BACKGROUND:Efficacy of the GH-receptor antagonist pegvisomant (PEG) has differed between preclinical and observational studies mainly due to dose adjustment and IGF-I normalization criteria. An escape phenomenon has also been described, but its definition and underlying causes have not been fully established. OBJECTIV...
journal_title:Clinical endocrinology
pub_type: 杂志文章,多中心研究
doi:10.1111/cen.12993
更新日期:2016-04-01 00:00:00
abstract::High gastrin levels were found in twenty-one out of fifty-six consecutive patients (38%) with thyrotoxicosis. Following return to euthyroidism gastrin levels generally fell, but twelve patients (21%) remained hypergastrinaemic. Six of these patients (11%) had achlorhydria indicating atrophic gastritis of the antrum sp...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1981.tb00607.x
更新日期:1981-02-01 00:00:00
abstract::The responses of plasma adrenocorticotrophin (ACTH), cortisol, growth hormone (GH) and prolactin to insulin-induced hypoglycaemia were studied in six lean male subjects (age 22-29 years). Intravenous insulin tests were performed with and without oxytocin infusion. Blood sugar nadir occurred at the onset of symptoms (t...
journal_title:Clinical endocrinology
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1111/j.1365-2265.1988.tb01223.x
更新日期:1988-09-01 00:00:00
abstract::Serum thyroxine was consistently unmeasurable by radioimmunoassay in an elderly patient with myxoedema after successful treatment with oral thyroxine. Abnormal binding of thyroxine was suspected and shown to be due to the presence in serum of antibodies of the IgG variety. The characteristics of these antibodies with ...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1981.tb02741.x
更新日期:1981-07-01 00:00:00