Abstract:
CONTEXT:Steroid 5α-reductase type 2 deficiency (5α-RD2) is a male-limited, autosomal recessive inherited disease. Affected 46, XY individuals usually present with ambiguous genitalia at birth. An early and precise diagnosis is of great value to the long-term prognosis of the disease. OBJECTIVE:To describe the clinical features and molecular determinants in 11 Chinese patients with the SRD5A2 gene mutation and to investigate the functional alteration arising from a novel splicing site mutation identified in one of the patients. SUBJECTS AND METHODS:Eleven subjects born with abnormal external genitalia from 10 unrelated families were recruited. Among them, nine patients who were reared as girls underwent virilization and gender change after puberty. Genotyping analysis of the SRD5A2 gene was performed in each of the patients. Haplotype analysis was performed in five patients with a prevalent mutation of p.G203S to illustrate the founder effect in China. Functional impairment of the new variant was explored by an in vitro splicing study and enzymatic activity assay. RESULTS:Nine mutations in the SRD5A2 gene were detected in the eleven patients. In addition to the previously reported p.G203S, p.R227Q, p.N193S, p.R246Q, p.Q6X, p.A228V, c.655delT and IVS1-2 A>G, a novel splicing site mutation (IVS4 + 2 T>C) was identified. From an in vitro functional study, this mutation was found to result in a skipping of exon 4 in the course of mRNA splicing, leading to a truncated protein of 205 amino acids that lacks the catalysing activity. Two siblings with the same compound heterozygous mutation (IVS1-2A>G/p.G203S) exhibited differing phenotypes and opposite patterns of gender rearing. A prevalent variation p.V89L combined with c.655delT was revealed to cause a mild phenotype of 5α-RD2 with a micropenis. CONCLUSION:This cohort study describes the phenotypic, biochemical and long-term outcome in 11 Chinese patients with 5α-RD2 deficiency and defines the genotypic spectrum of SRD5A2 mutations in China.
journal_name
Clin Endocrinol (Oxf)journal_title
Clinical endocrinologyauthors
Zhu H,Liu W,Han B,Fan M,Zhao S,Wang H,Lu Y,Pan C,Chen F,Chen M,Song H,Cheng K,Qiao Jdoi
10.1111/cen.12456subject
Has Abstractpub_date
2014-11-01 00:00:00pages
711-20issue
5eissn
0300-0664issn
1365-2265journal_volume
81pub_type
杂志文章abstract:OBJECTIVE:Germline mutations in the HRPT2 gene are associated with the hereditary hyperparathyroidism-jaw tumour syndrome (HPT-JT) and a subset of familial isolated hyperparathyroidism (FIHP). Somatic HRPT2 mutations are detected in sporadic parathyroid carcinomas and less frequently in cystic adenomas. The purpose of ...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.2011.04184.x
更新日期:2012-01-01 00:00:00
abstract:BACKGROUND AND OBJECTIVE:Clinical acromegaly is characterized by dysregulation of somatotroph GH secretion in the presence of high circulating serum IGF-I levels. Physiologically, IGF-I exerts a negative feedback on GH secretion at both the hypothalamic and the pituitary levels. We have previously shown that the 943 an...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1995.tb01858.x
更新日期:1995-02-01 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::We studied the circadian rhythm and the response of the hypothalamic-pituitary-adrenal (HPA) axis to ovine corticotrophin releasing hormone (oCRH) stimulation and dexamethasone suppression in 32 children with grade II-III marasmus. Children were studied prior to and after nutritional rehabilitation. Mean baseline plas...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1990.tb00886.x
更新日期:1990-04-01 00:00:00
abstract::A wide variety of adverse effects of methimazole (MMI) have been reported. Here we report a new MMI-induced disorder, acute pancreatitis and parotitis. Three weeks after a woman started MMI treatment for Graves' disease, she developed a high fever, painful parotid swelling and dull pain in the upper abdomen with eleva...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1046/j.1365-2265.1999.00888.x
更新日期:1999-11-01 00:00:00
abstract:CONTEXT:Animal data and cross-sectional human studies have established that chronic hyponatraemia predisposes to osteoporosis; the effects of acute hyponatraemia on bone turnover have not been determined. Our objective was to test the hypothesis that acute hyponatraemia leads to dynamic effects on bone turnover. DESIG...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/cen.14367
更新日期:2020-11-11 00:00:00
abstract:OBJECTIVE:The objective of the present study was to elucidate the parathyroid responsiveness by measurements of blood ionized calcium and serum intact parathyroid hormone (PTH) concentrations, before and during trisodium citrate induced hypocalcaemia. PATIENTS AND CONTROLS:Sixteen patients with primary hyperparathyroi...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1992.tb02336.x
更新日期:1992-10-01 00:00:00
abstract::Seckel syndrome is an autosomal-recessive disorder with a frequency of less than 1/10 000 births in which there are multiple malformations including severe short stature. We report on a patient with Seckel syndrome with a current body height of -7.5 SDS. Laboratory investigations at the age of 19 months revealed high ...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1046/j.1365-2265.2002.01590.x
更新日期:2002-08-01 00:00:00
abstract:OBJECTIVE:To examine the factors influencing the levels of sex hormone-binding globulin (SHBG) in normal postmenopausal women by assessing the relationship between SHBG and measured anthropometric, metabolic and hormonal variables. DESIGN:Cross-sectional, observational study. SUBJECTS AND METHODS:Seventy normal postm...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1046/j.1365-2265.2001.01183.x
更新日期:2001-01-01 00:00:00
abstract::3-M syndrome is an autosomal recessive primordial growth disorder characterized by small birth size and post-natal growth restriction associated with a spectrum of minor anomalies (including a triangular-shaped face, flat cheeks, full lips, short chest and prominent fleshy heels). Unlike many other primordial short st...
journal_title:Clinical endocrinology
pub_type: 杂志文章,评审
doi:10.1111/j.1365-2265.2012.04428.x
更新日期:2012-09-01 00:00:00
abstract:OBJECTIVE:To elucidate the interaction between insulin and dehydroepi-androsterone (DHEA) concentrations, we evaluated serum DHEA and DHEA-sulphate (DHEA-S) levels in diabetic patients with hyperinsulinaemia. PATIENTS AND DESIGN:Twenty-four subjects with non-insulin dependent diabetes mellitus, 12 hyperinsulinaemic su...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1046/j.1365-2265.1998.00533.x
更新日期:1998-09-01 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: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:We describe four patients with ovarian hyperthecosis and the effects of gonadotrophin releasing hormone on clinical and metabolic variables. DESIGN:Open out-patient study. PATIENTS:Four women presented with post-menopausal hirsuties. They had significant hair growth across the chest, upper back and shoulder...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1046/j.1365-2265.1997.1050916.x
更新日期:1997-02-01 00:00:00
abstract:OBJECTIVE:To assess the relationship between circulating leptin levels, bone mineral content and density in the elderly. DESIGN:A cross-sectional study. PATIENTS:A cohort of 92 men and 171 women, with ages ranging from 68 to 75 years, selected as a healthy and normal functioning group, in the city centre of Verona. ...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1046/j.1365-2265.2003.01808.x
更新日期:2003-07-01 00:00:00
abstract::To test whether the administration of sodium fluoride in vivo results in an increase in osteocalcin concentration, we administered sodium fluoride to seven healthy male subjects for a period of 3 weeks. Fasting calcium, phosphate, alkaline phosphatase, 25-hydroxyvitamin D, parathyroid hormone and osteocalcin were meas...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1988.tb02893.x
更新日期:1988-10-01 00:00:00
abstract:OBJECTIVE:There are no consistent data on the prevalence and bone status of normocalcaemic hypoparathyroidism (NHYPO) as defined by normal adjusted calcium and low PTH level. Our aim was to determine the prevalence and the metabolic bone profile of NHYPO in older women, assessing its evolution over time. The second obj...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/cen.12732
更新日期:2015-06-01 00:00:00
abstract:CONTEXT:Endothelial progenitor cells (EPCs) are bone marrow-derived cells required for endothelial repair. Circulating EPC concentration is low in conditions characterized by endothelial dysfunction but their number can be increased by treatment with phosphodiesterase-5 (PDE5) inhibitors. EPCs are also reduced in hypog...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.2008.03507.x
更新日期:2009-09-01 00:00:00
abstract::Phaeochromocytomas and paragangliomas (PPGLs) are rare tumours that arise from the adrenal medulla or extra-adrenal sympathetic or parasympathetic paraganglia. Recent advances in genetics have greatly enhanced understanding of the pathogenesis and molecular physiology of PPGL. Concomitantly, advances in molecular imag...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/cen.14375
更新日期:2020-12-09 00:00:00
abstract:BACKGROUND:Metadherin (MTDH) protein, also called astrocyte elevated gene-1 (AEG-1) is over expressed in a variety of malignant tumours, and is closely related to tumour invasion and the poor prognosis. OBJECTIVE:This study tries to explore the clinical pathological significance of MTDH expression in a large cohort of...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/cen.12683
更新日期:2015-10-01 00:00:00
abstract:OBJECTIVE:We assessed the relative risk of both serum TSH and antithyroid antibody concentrations with regard to progression of thyroid failure and studied the lipid profiles of individuals with elevated TSH levels. DESIGN, PATIENTS AND MEASUREMENTS:In a randomly selected group of 427 women aged 40-60 (mean 55) years ...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1993.tb02366.x
更新日期:1993-09-01 00:00:00
abstract::The results obtained with a new test of prolactin (PRL) release in six panhypopituitary patients as compared to fourteen normal subjects (eight females and six males) are presented. The test consists of the i.m. administration of 100 mg of sulpiride and the measurement of plasma PRL by a double antibody radioimmunoass...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1978.tb01494.x
更新日期:1978-03-01 00:00:00
abstract:OBJECTIVE:To audit the efficacy of quinagolide (CV205-502, Norprolac, Sandoz) in lowering prolactin, and its tolerability, in patients with bromocriptine resistance (BCR) or bromocriptine intolerance (BCI), in view of the paucity of results published in patients specifically with BCR or BCI, by collating results in our...
journal_title:Clinical endocrinology
pub_type: 临床试验,杂志文章
doi:10.1111/j.1365-2265.1994.tb02799.x
更新日期:1994-12-01 00:00:00
abstract::Cushing's syndrome in pregnancy is rare but associated with a high fetal loss rate, premature labour and excessive maternal morbidity. There has been controversy regarding the safety and efficacy of surgical treatment during pregnancy. We describe two further cases, both due to adrenal adenomas, in whom the diagnosis ...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1987.tb01148.x
更新日期:1987-08-01 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
abstract::The cardiovascular response and the changes of plasma arginine vasopressin (AVP) concentration following graded doses of AVP infused intravenously have been defined in six normal young men. The same measurements were also made during fluid deprivation in a patient with both nephrogenic diabetes insipidus and systemic ...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1980.tb01052.x
更新日期:1980-09-01 00:00:00
abstract:OBJECTIVE:Non-tumour causes of hyperprolactinaemia, including prolactin-elevating drugs, must be excluded. There is a general view that such drugs are unlikely to raise serum PRL above 3000 mU/I, but the literature is confusing. We report 8 patients receiving treatment with neuroleptic drugs, whose serum PRL concentrat...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1046/j.1365-2265.1998.00569.x
更新日期:1998-10-01 00:00:00
abstract:OBJECTIVE:The level of growth hormone (GH), growth hormone secretogogue (GHS) and GHS receptor (GHSR) messenger ribonucleic acid (mRNA) expression has been reported as being higher in GH-producing pituitary adenomas than in other types of pituitary adenomas. Recently, ghrelin, an endogenous ligand specific for GHSR, wa...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1046/j.1365-2265.2001.01286.x
更新日期:2001-06-01 00:00:00
abstract::Measurements of circulating thyroglobulin (hTg) and 131I whole body scan were performed in 101 patients with differentiated thyroid carcinoma who had been subjected to surgical thyroidectomy and 131I ablation of remaining thyroid tissue. All 45 patients with positive scans (i.e. functioning metastases) had elevated hT...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1980.tb01030.x
更新日期:1980-07-01 00:00:00
abstract:CONTEXT:Teriparatide (TPTD) therapy has been proposed as a potential treatment strategy in severe cases of pregnancy- and lactation-associated osteoporosis (PLO) characterized by the occurrence of fragility fractures in the third trimester or early postpartum. OBJECTIVE:To investigate the changes in bone mineral densi...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/cen.13557
更新日期:2018-05-01 00:00:00