Abstract:
BACKGROUND:Aromatase deficiency (AD) caused by cytochrome P450 family 19 subfamily A polypeptide 1 (CYP19A1) variants is characterized by a deficiency in androgen-to-oestrogen conversion. OBJECTIVE:To investigate the clinical characteristics and accurate management of aromatase-deficient children. PATIENTS AND METHODS:We described three 46, XX aromatase-deficient children, searched PubMed with "(aromatase deficiency) AND (46, XX OR ovaries)" and manually searched citations in identified studies for the literature review. RESULTS:Two girls and one boy (3.4-9.2 years) with the 46, XX karyotype presented ambiguous genitalia and maternal antenatal virilization, normal-low height, delayed bone age, normal glucose and lipid profiles, markedly elevated follicle-stimulating hormone (FSH) levels and poor oestradiol responses to human menopausal gonadotropin stimulation. Ultrasound revealed normal-sized uterus and ovaries with undetectable follicles. Histopathology revealed primordial follicles and few primary follicles in ovaries. One patient presented granulosa and follicular membrane cell proliferation and interstitial sclerosis. We identified four CYP19A1 variants; c.146_158del and c.344G >A were unreported. We reviewed available data from thirty 46, XX patients (0.2-32 years). Some patients were not diagnosed until puberty/adulthood; three were initially misdiagnosed with congenital adrenocortical hyperplasia. The main characteristics were maternal antenatal virilization (21/29), ambiguous genitalia (mainly Prader IV or III, 19/23), delayed bone age (16/17), low bone mass (5/8), markedly elevated FSH levels and ovarian cysts (13/30). CONCLUSIONS:46, XX AD is easily neglected or misdiagnosed. Ambiguous genitalia, maternal antenatal virilization and markedly elevated FSH levels are important diagnostic indicators. We described two novel variants, new histopathological features of ovaries and an early management strategy.
journal_name
Clin Endocrinol (Oxf)journal_title
Clinical endocrinologyauthors
Fan L,Zhang B,Li L,Gong Cdoi
10.1111/cen.14277subject
Has Abstractpub_date
2020-12-01 00:00:00pages
687-695issue
6eissn
0300-0664issn
1365-2265journal_volume
93pub_type
杂志文章abstract:OBJECTIVE:To determine whether maternal vitamin D supplementation, in the vitamin D deficient mother, prevents neonatal vitamin D deficiency. DESIGN:Open-label randomized controlled trial. SETTING:Metropolitan Melbourne, Australia, tertiary hospital routine antenatal outpatient clinic. PARTICIPANTS:Seventy-eight wom...
journal_title:Clinical endocrinology
pub_type: 杂志文章,随机对照试验
doi:10.1111/cen.12762
更新日期:2015-09-01 00:00:00
abstract:OBJECTIVES:Plasma C-reactive protein (CRP) is associated with cardiovascular disease (CVD), but effects may vary by gender and degree of CVD risk. Whether CRP has value as a CVD risk marker in type-2 diabetes (T2DM) is unclear. We examined whether CRP has gender differences in association with coronary artery calcium (...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.2010.03879.x
更新日期:2011-01-01 00:00:00
abstract:OBJECTIVE:The aetiology of non-insulin dependent diabetes is unknown, but defective insulin secretion is a feature. The disease also has a strong genetic basis and first-degree relatives of patients have an increased risk of future diabetes. To investigate whether beta-cell dysfunction is an early feature of the diseas...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1995.tb01873.x
更新日期:1995-03-01 00:00:00
abstract:OBJECTIVES:Patients with type 1 diabetes are at increased risk of cardiovascular disease, which may be related to abnormal lipid metabolism. Secretion and clearance of VLDL apolipoprotein B100 (apoB) are important determinants of plasma lipid concentrations and are known to be influenced by hormones, including insulin ...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1046/j.1365-2265.2001.01407.x
更新日期:2001-12-01 00:00:00
abstract:OBJECTIVE:The body adiposity index (BAI) has been recently proposed as an alternative index to body mass index (BMI) and waist circumference (WC) to evaluate adiposity in adults, with special focus on its ability to discriminate gender specificities on adiposity. Endothelial dysfunction, circulating endothelial cells (...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/cen.12195
更新日期:2013-11-01 00:00:00
abstract:OBJECTIVE:The molecular events leading to the development of GH-secreting pituitary tumours remain largely unknown. Gsalpha (GNAS1) mutations are found in 27-43% of sporadic GH-secreting adenomas in the Caucasian population, but the frequency of GNAS1 mutations in Japanese and Korean acromegalic patients was reported t...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1046/j.1365-2265.2003.01740.x
更新日期:2003-04-01 00:00:00
abstract:OBJECTIVE:Use of the antithyroid drugs (ATDs) thiamazole (MMI) and propylthiouracil (PTU) is associated with a high frequency of side effects. When patients experience side effects with one (the 1st) ATD, it is usually discontinued and another is administered (the 2nd ATD). We investigated side effects associated with ...
journal_title:Clinical endocrinology
pub_type: 杂志文章,随机对照试验
doi:10.1111/j.1365-2265.2012.04365.x
更新日期:2012-08-01 00:00:00
abstract:CONTEXT:Glucokinase (GCK) phosphorylates and thereby "traps" glucose in cells, thus serving as a gatekeeper for cellular glucose metabolism, particularly in hepatocytes and pancreatic beta cells. In humans, activating GCK mutations cause familial hyperinsulinaemic hypoglycaemia (GCK-HH), leading to keen interest in the...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/cen.12517
更新日期:2014-12-01 00:00:00
abstract::The effects of thyroid hormones and antithyroid treatment upon lumbar spine bone mineral content (lumbar BMC) were studied in a consecutive series of patients with myxoedema and thyrotoxicosis, respectively. All patients were investigated in the untreated state and 3-monthly during appropriate treatment for 1 year by ...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1983.tb02873.x
更新日期:1983-05-01 00:00:00
abstract:OBJECTIVE:To assess possible side-effects of long-term continuous growth hormone (GH) treatment on carbohydrate (CH) metabolism in children with short stature born small for gestational age. DESIGN:In a prospective, randomised double-blind, dose-response multicentre trial, the effect of GH treatment on CH metabolism w...
journal_title:Clinical endocrinology
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1046/j.1365-2265.2001.01178.x
更新日期:2001-02-01 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:Patients with idiopathic hypoparathyroidism (IH) require variable doses of calcium and 1-α-(OH)D. The reasons for such variability are not clear. As autoimmune mechanisms may play a role in IH, there is a possibility of coexistent coeliac disease with calcium/vitamin D malabsorption. OBJECTIVE:We assessed t...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/cen.12850
更新日期:2016-04-01 00:00:00
abstract:BACKGROUND:We recently identified a novel anorexigenic protein, nesfatin-1, which is processed from nesfatin/nucleobindin-2 (NUCB2). However, the clinical importance of this protein has not been determined. OBJECTIVE:To investigate its clinical significance in humans, we have established a new specific enzyme-linked i...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.2010.03835.x
更新日期:2010-10-01 00:00:00
abstract:OBJECTIVE:With increasing use of computed tomography and magnetic resonance imaging, pituitary adenomas are being discovered incidentally with increasing frequency. However, limited data are available concerning the clinical importance and natural history of such 'incicentalomas'. We have undertaken a prospective study...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1046/j.1365-2265.1999.00748.x
更新日期:1999-07-01 00:00:00
abstract:OBJECTIVE:A relationship between the serotoninergic and the opiatergic system in the pathogenesis of head pain is supported by several data. This study was carried out to investigate the neuroendocrine effects of sumatriptan, a specific serotonin agonist used in the treatment of migraine, on hypothalamic-pituitary-adre...
journal_title:Clinical endocrinology
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1111/j.1365-2265.1994.tb02470.x
更新日期:1994-02-01 00:00:00
abstract:BACKGROUND AND OBJECTIVE:Women with previous gestational diabetes (pGDM) are at risk of developing Type 2 diabetes. Glucagon-like peptide-1 (GLP-1) potentiates the insulin response to oral glucose, and its secretion is diminished in Type 2 diabetes. The aim of the study was to see if decreased GLP-1 secretion might be ...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.2004.02172.x
更新日期:2005-01-01 00:00:00
abstract:BACKGROUND:Distinguishing malignant thyroid nodules in patients with follicular cytology by fine-needle aspiration (FNA) remains problematic. The large majority of thyroid nodules (> 85%) are overtreated. Therefore, a clear need exists to develop more accurate initial diagnostic tests for follicular thyroid nodules. Ga...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.2007.03031.x
更新日期:2008-02-01 00:00:00
abstract:CONTEXT:In contrast to the cardiac hormones, atrial natriuretic peptide (ANP) and B-type natriuretic peptide (BNP), variations in plasma concentrations of C-type natriuretic peptide (CNP) in healthy adults are ill-defined, limiting their clinical application. OBJECTIVE:Our objective was to define the effect of age, ph...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/cen.12035
更新日期:2013-05-01 00:00:00
abstract::A 30 year old woman presenting with infertility was found to have elevated serum immunoreactive prolactin, TSH and total T3. These findings were eventually attributed to assay artifact when she was shown to have anti-rabbit antibodies in her serum. The possibility of laboratory artifact should be considered in clinica...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1988.tb01201.x
更新日期:1988-01-01 00:00:00
abstract::We have employed a syngeneic system utilizing thyroid cell monolayers initiated following thyroid surgery co-cultured with autologous T cells to demonstrate T cell autosensitization in patients with Graves' disease. Antigen-induced blastogenesis was monitored using 24 h [3H]thymidine uptake. Control experiments with 5...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1985.tb01077.x
更新日期:1985-02-01 00:00:00
abstract:OBJECTIVE:Hypopituitarism, including severe GH deficiency, is an almost inevitable outcome of craniopharyngioma. However, some GH deficient children with this tumour may grow normally or even have accelerated growth postoperatively. To study this phenomenon we have investigated the endocrine status, including IGF-1 and...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1046/j.1365-2265.1998.00590.x
更新日期:1998-12-01 00:00:00
abstract::Six healthy subjects were infused with angiotensin II and plasma concentrations of angiotensin, ACTH and cortisol were measured before, during and after the infusion. In all cases the plasma ACTH concentration fell as plasma angiotensin increased and rose again, sometimes to higher than basal levels, when the angioten...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1979.tb01359.x
更新日期:1979-02-01 00:00:00
abstract:OBJECTIVE:The present study was performed to characterize the molecular heterogeneity of serum FSH in normal males and to investigate the possible influence of testosterone on serum FSH in androgen-deficient men before and during testosterone administration. DESIGN AND PATIENTS:Serum samples were taken at 10-minute in...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1993.tb01770.x
更新日期:1993-08-01 00:00:00
abstract:BACKGROUND:While an association between androgens and the metabolic syndrome (MS) is well established in obese women, studies concerning this relationship are scarce in obese adolescent girls. Therefore, we analysed the relationships between androgens, MS and intima-media thickness (IMT) in this age-group. METHODS:In ...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.2009.03710.x
更新日期:2010-06-01 00:00:00
abstract:INTRODUCTION:Prader-Willi syndrome (PWS) is a genetic disorder caused by the loss of expression of paternally transcribed genes in a highly imprinted region of chromosome 15q11-13. The clinical phenotype has been well characterized, mostly related to hypothalamic dysfunction. Even though central hypothyroidism has been...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.2010.03840.x
更新日期:2010-10-01 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:Cadmium (Cd) has been shown to impair pubertal development in experimental animals. However, no data are available for male adolescents with increased urinary cadmium levels. DESIGN:The aim of this cross-sectional study was to evaluate pubertal onset and pituitary-gonadal axis hormones in male adolescents wi...
journal_title:Clinical endocrinology
pub_type: 杂志文章,多中心研究
doi:10.1111/cen.12704
更新日期:2015-09-01 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:OBJECTIVE:The protein-tyrosine-phosphate nonreceptor 22 gene (PTPN22) has recently been identified as a susceptibility locus for a number of autoimmune diseases including Graves' disease (GD). PTPN21 is another member of the PTPN family and its gene PTPN21 maps to the first reported region of genetic linkage to GD, GD-...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.2006.02608.x
更新日期:2006-09-01 00:00:00
abstract:BACKGROUND:22q11.2 deletion syndrome (22q11.2DS) is a relatively common yet under-recognized genetic syndrome that may present with endocrine features. We aimed to address the factors that contribute to the high prevalence of hypocalcaemia. METHODS:We investigated hypocalcaemia in a well-characterized sample of 138 ad...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/cen.12466
更新日期:2014-08-01 00:00:00