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:OBJECTIVE:Animal studies suggest pathological foetal programming of hypothalamic circuits regulating food intake in the setting of leptin deficiency and intrauterine growth restriction (IUGR). We aimed to compare placental leptin synthesis and leptin-binding capability in venous cord blood between IUGR newborns and neo...
journal_title:Clinical endocrinology
pub_type: 杂志文章,多中心研究
doi:10.1111/j.1365-2265.2010.03943.x
更新日期:2011-04-01 00:00:00
abstract:BACKGROUND AND OBJECTIVE:The differentiation of benign from malignant phaeochromocytoma is difficult. We have examined whether the use of flow cytometric determination of nuclear DNA content would be useful as a predictor of malignant behaviour in patients with phaeochromocytoma as some previous studies had suggested t...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1046/j.1365-2265.1996.624448.x
更新日期:1996-02-01 00:00:00
abstract:OBJECTIVE:Provocative stimulation tests for GH assessment have poor reproducibility and can often elicit false positive results in normal children. The aim of our study was to evaluate the capability of pegvisomant, as an enhancer of GH secretion, in unmasking false-positive results in short children undergoing GH test...
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doi:10.1111/j.1365-2265.2007.03132.x
更新日期:2008-06-01 00:00:00
abstract:BACKGROUND:Clinically significant Graves' orbitopathy (GO) develops in about 25% of those with Graves' disease (GD); most cases of GD in the UK are managed by endocrinologists. Despite this, patients report significant delays before a diagnosis of GO is made. Measures to increase awareness of the early signs of GO and ...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/cen.13438
更新日期:2017-12-01 00:00:00
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journal_title:Clinical endocrinology
pub_type: 杂志文章,多中心研究
doi:10.1111/cen.14008
更新日期:2019-08-01 00:00:00
abstract::Bone biopsies were performed and serum concentrations of vitamin D metabolites were measured in twenty-four patients with chronic renal failure. The concentrations of three metabolites--25-dihydroxyvitamin D (25-OHD), 24,25-dihydroxyvitamin D (24,25-OH2D) and 1,25-dihydroxyvitamin D (1,25-OH2D)--were significantly low...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1980.tb03399.x
更新日期:1980-10-01 00:00:00
abstract:OBJECTIVE:Previous studies have suggested that hypothyroidism affects both systolic and diastolic cardiac function. We have applied equilibrium radionuclide angiography to the study of heart function at rest in hypothyroidism. DESIGN:A prospective study, evaluating cardiac function at rest in primary hypothyroidism. ...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1046/j.1365-2265.1999.00662.x
更新日期:1999-04-01 00:00:00
abstract::Five patients with Bloom's syndrome aged from 2 8/12 to 27 years, all of whom had hypogonadism, were subjected to an i.v. LHRH test and two of them to an i.m. HCG test. There was increased responsiveness of plasma LH and FSH, indicating that the hypogonadism is primary in nature and of early development. The tubular e...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1977.tb02013.x
更新日期:1977-04-01 00:00:00
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journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1046/j.1365-2265.2001.01322.x
更新日期:2001-10-01 00:00:00
abstract::Computed tomography of the pituitary fossa was performed in 12 patients with primary hypothyroidism before and after thyroxine treatment. In three, herniation of the diaphragma sellae precluded accurate measurement of the density of the hypophysis. Eight of the remaining patients showed abnormally increased density of...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1985.tb02997.x
更新日期:1985-05-01 00:00:00
abstract::Exposure to maternal hypothyroxinemia during pregnancy, which is characterized by low free T4 but normal thyroid-stimulating hormone (TSH) levels, can negatively affect the foetus. This review provides an overview of present findings concerning the association between maternal hypothyroxinemia during pregnancy and chi...
journal_title:Clinical endocrinology
pub_type: 杂志文章,评审
doi:10.1111/cen.12227
更新日期:2013-08-01 00:00:00
abstract:OBJECTIVE:The purpose of this investigation was to evaluate the effectiveness of short-term administration of recombinant biosynthetic IGF-I on patients with an hereditary inability to generate this hormone. DESIGN AND PATIENTS:Ten patients with Laron type dwarfism (LTD) (4 males, six females) aged 3 1/2 to 37 3/4 yea...
journal_title:Clinical endocrinology
pub_type: 临床试验,杂志文章
doi:10.1111/j.1365-2265.1991.tb03513.x
更新日期:1991-08-01 00:00:00
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journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/cen.14153
更新日期:2020-04-01 00:00:00
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journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1046/j.1365-2265.1997.1400957.x
更新日期:1997-04-01 00:00:00
abstract:BACKGROUND:Hospital-acquired hyponatraemia is a common and potentially serious condition. Risk factors for hospital-acquired hyponatraemia have not been studied in a controlled fashion. Methods From 1501 patients in whom serum sodium (S(Na)) was determined, 50 cases with hospital-acquired hyponatraemia (in-hospital dec...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.2007.02741.x
更新日期:2007-03-01 00:00:00
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journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.2007.02935.x
更新日期:2007-10-01 00:00:00
abstract::To quantify the role of endogenous oestrogen activity in osteoporosis we measured relative metacarpal cortical area (RCA), body mass, serum oestrone, oestradiol, androstenedione, and sex hormone binding globulin (SHBG) in 746 postmenopausal women aged 53 to 76 years, sampled from the general population. The occurrence...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1989.tb01274.x
更新日期:1989-10-01 00:00:00
abstract::The inactivation of synthetic [3H]thyrotrophin-releasing hormone (TRH) by plasma was studied in rats treated with propylthiouracil (PTU) alone or with PTU and thyroxine. 48 h after the onset of treatment with thyroxine, the capacity of rat plasma to inactivate [3H]TRH was significantly increased. The percentage of dea...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1976.tb01961.x
更新日期:1976-07-01 00:00:00
abstract::A 31-year old female presented with recurrent episodes of post-prandial hypoglycaemic symptoms. Basal serum levels of ACTH, cortisol, GH, insulin and glucagon were normal. An adrenaline test demonstrated a normal peripheral response. An exercise test failed to produce ACTH, cortisol or FFA responses. Insulin (0.1 u/kg...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1983.tb00022.x
更新日期:1983-10-01 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::An oestrogen provocation test was performed in five healthy women during chronic intranasal treatment with 400 or 600 micrograms of the superactive LHRH agonist D-Ser(TBU)6-EA10-LHRH daily. Oestradiol benzoate 2.5 mg was administered intramuscularly after at least 3 months of LHRH agonist treatment. The serum levels o...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1982.tb03158.x
更新日期:1982-02-01 00:00:00
abstract:OBJECTIVE:Strategies to limit the final height of tall children have centred on the use of high doses of sex steroids to advance skeletal maturation. This limits therapy to the peripubertal years whereas the greatest gain in height is in the prepubertal years. Prepubertal growth is largely GH dependent and previous wor...
journal_title:Clinical endocrinology
pub_type: 临床试验,杂志文章
doi:10.1111/j.1365-2265.1995.tb02670.x
更新日期:1995-05-01 00:00:00
abstract::The catechol oestrogen 2-hydroxyoestrone has been reported to lower serum prolactin concentrations acutely in normal women and it has been proposed that it may be effective in suppressing prolactin secretion in hyperprolactinaemic patients. Five women with hyperprolactinaemia and anovulation were studied. Following a ...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1981.tb00678.x
更新日期:1981-10-01 00:00:00
abstract:OBJECTIVE:Primary glucocorticoid resistance is characterized by decreased sensitivity to cortisol signalling. We have performed genetic analysis of the glucocorticoid receptor (GR) gene in 12 unrelated patients with primary cortisol resistance as defined by a pathological dexamethasone suppression test. METHODS:Exon s...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1046/j.1365-2265.2001.01323.x
更新日期:2001-09-01 00:00:00
abstract:OBJECTIVE:Serum thyroglobulin (Tg) is a marker of residual differentiated thyroid cancer (DTC) after total thyroidectomy; however, circulating antithyroglobulin antibodies (TgAb) may interfere with the immunoassay for Tg. Ultrasensitive assays may have a more significant role in detecting circulating Tg in the context ...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/cen.12736
更新日期:2016-02-01 00:00:00
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journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/cen.13043
更新日期:2016-09-01 00:00:00
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journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.2008.03372.x
更新日期:2009-03-01 00:00:00
abstract::The clinical features, diagnosis and management of 16 consecutive patients with ectopic ACTH production are described and biochemical data are compared with those of 48 consecutive patients with pituitary-dependent Cushing's disease. In 10 cases the ectopic ACTH secreting tumour was completely occult to routine clinic...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1986.tb01667.x
更新日期:1986-06-01 00:00:00
abstract:OBJECTIVE:Testosterone replacement is generally considered likely to be required only at testicular radiation doses in excess of 20Gy. Long-term data are not available for patients receiving 9-14.4Gy as part of Total Body Irradiation in childhood. DESIGN:Retrospective cohort study. DATA COLLECTION:notes review, labor...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/cen.14059
更新日期:2019-11-01 00:00:00
abstract::Prolactin secretion and biological activity have been investigated in 20 females with persistent idiopathic galactorrhoea who had normal resting serum prolactin levels at presentation. Results were compared with those in 34 normal controls. Hyperprolactinaemia, which was persistent in one and intermittent in the other...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1985.tb03003.x
更新日期:1985-05-01 00:00:00