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 adults with 22q11.2DS (65 m, 73 F; mean age 34.2, SD 11.8, years) using laboratory studies and lifelong medical records. Logistic regression modelling was used to identify features associated with lifetime prevalence of hypocalcaemia. RESULTS:Of the total sample, 111 (80.4%) had a lifetime history of hypocalcaemia. Eleven (84.6%) of 13 subjects with neonatal hypocalcaemia had documented recurrence of hypocalcaemia. Lifetime history of hypocalcaemia was associated with lifetime prevalence of hypoparathyroidism (P < 0.0001) and hypothyroidism (P = 0.04), as statistically independent factors. Hypomagnesaemia was associated with concurrent hypocalcaemic measurements, especially in the presence of concurrent hypoparathyroidism (P = 0.02). CONCLUSIONS:The results suggest that, in addition to the major effect of hypoparathyroidism, hypothyroidism may play a role in hypocalcaemia in 22q11.2DS and that there is a high recurrence rate of neonatal hypocalcaemia. Hypomagnesaemia may contribute to hypocalcaemia by further suppressing parathyroid hormone (PTH). Although further studies are needed, the findings support regular lifelong follow-up of calcium, magnesium, PTH and TSH levels in patients with 22q11.2DS. At any age, hypocalcaemia with hypoparathyroidism and/or hypothyroidism may suggest a diagnosis of 22q11.2DS.
journal_name
Clin Endocrinol (Oxf)journal_title
Clinical endocrinologyauthors
Cheung EN,George SR,Costain GA,Andrade DM,Chow EW,Silversides CK,Bassett ASdoi
10.1111/cen.12466subject
Has Abstractpub_date
2014-08-01 00:00:00pages
190-6issue
2eissn
0300-0664issn
1365-2265journal_volume
81pub_type
杂志文章abstract::Growth hormone and prolactin are secreted episodically in man and experimental animals. To investigate physiologic mechanisms of GH and PRL secretion, a series of experiments were performed in individual, unanaesthetized male and female rats. GH secretion in the male rat is characterized by intermittent surges that oc...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1977.tb03335.x
更新日期:1977-01-01 00:00:00
abstract:OBJECTIVE:Reduction of plasma free fatty acids leads to enhanced GH response after stimulation by GH-releasing hormone (GHRH). We studied the clinical usefulness of combined administration of acipimox and GHRH for the diagnosis of GH deficiency. DESIGN:We evaluated 35 patients [mean age 53.0 years; mean body mass inde...
journal_title:Clinical endocrinology
pub_type: 临床试验,杂志文章
doi:10.1046/j.1365-2265.2003.01684.x
更新日期:2003-02-01 00:00:00
abstract::Thyroid function and exposure to dietary goitrogenic factors (iodine deficiency and thiocyanate overload) were studied at birth and from birth to 7 years in 200 neonates and 347 children living in the severe endemic goitre area of Ubangi, Northern Zaire. Serum T4 was at the lower limit of normal at birth (104 +/- 4 nm...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1984.tb00089.x
更新日期:1984-03-01 00:00:00
abstract:OBJECTIVE:To study the effects of thyroxine on orocaecal transit time in a group of elderly hypothyroid patients on long-term thyroxine replacement therapy. DESIGN:Measurement of the effect of withdrawal and subsequent replacement of thyroxine replacement therapy on orocaecal transit time. PATIENTS:Fifteen elderly, p...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1991.tb03563.x
更新日期:1991-11-01 00:00:00
abstract:OBJECTIVE:Milk-alkali syndrome, once a common cause of hypercalcaemia, is now considered rare. Our aim was to estimate the prevalence of milk-alkali syndrome among hypercalcaemic, non-end-stage renal disease (non-ESRD) inpatients of a University Hospital and identify patients' and syndrome characteristics. DESIGN AND ...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.2005.02383.x
更新日期:2005-11-01 00:00:00
abstract:OBJECTIVES:Septic patients always develop muscle wasting, which delays the rehabilitation and contributes to the increased complications and mortality. Previous studies have implied the crucial role of central inflammation and neuropeptides in the energy balance and muscle metabolism. Insulin has been confirmed to atte...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/cen.12610
更新日期:2015-05-01 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::A convenient, sensitive radioimmunoassay of free thyroxine in serum dialysates is described. The method utilizes a solid phase separation system (pre-formed double antibody) and a relatively short incubation period (220 min) with a staggered addition of tracer. Blanks were low and consistent. The normal range for non-...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1982.tb03153.x
更新日期:1982-01-01 00:00:00
abstract::Autoantibodies to thyroid peroxidase (TPO), the thyroid 'microsomal' antigen, are widely utilized in the diagnosis of human autoimmune thyroid disease. Crude human thyroid preparations of TPO are of differing potency, contain residual thyroglobulin (Tg) and other human membrane antigens, and are available in only limi...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1990.tb03912.x
更新日期:1990-12-01 00:00:00
abstract:BACKGROUND:Obesity disproportionately affects African Americans (AA) (especially women), and is linked to depressed 25-hydroxyvitamin D (25-OH D) and elevated parathyroid hormone (PTH). The relationship of 25-OH D and PTH with body composition and size in AA is not well known. OBJECTIVE:To determine the relationship o...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.2009.03676.x
更新日期:2010-05-01 00:00:00
abstract:OBJECTIVE:The relationship of quantitative GH secretion to height, growth velocity and puberty is complex and has been the subject of extensive study in children. This study was designed to relate quantitative GH secretion to final height. SUBJECTS:Twenty tall (> 183 cm, 90th centile for adult height) and 20 short (< ...
journal_title:Clinical endocrinology
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1046/j.1365-2265.1999.00844.x
更新日期:1999-11-01 00:00:00
abstract:OBJECTIVE:To study the relationship between maternal thyrotrophin (TSH) and breech presentation at term. DESIGN:Combined data sets of two prospective studies to obtain adequate epidemiological power. PATIENTS:One thousand and fifty-eight healthy pregnant women (58 breech, 1000 cephalic) and 131 women who presented in...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.2010.03846.x
更新日期:2010-11-01 00:00:00
abstract::Severe pituitary Cushing's disease of sudden onset after 18 years of unsuccessful treatment for a previously non-functioning chromophobe adenoma is described in a middle-aged woman. Initial presentation with symptoms of optic nerve compression had been preceded by two years of amenorrhoea. Transfrontal resection of a ...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1985.tb01076.x
更新日期:1985-02-01 00:00:00
abstract::A A 23-year-old man with secondary hypogonadism was also found to be thyrotoxic. Results of thyroid function tests were in the hyperthyroid range but the serum TSH was inappropriately high. A pituitary tumour was demonstrated and following hypophysectomy he became biochemically hypothyroid. Evidence is presented and d...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1976.tb02825.x
更新日期:1976-03-01 00:00:00
abstract:OBJECTIVE:Insulin resistance has been linked to intrauterine growth restriction; adiponectin is a strong determinant of insulin sensitivity. We aimed at studying the contributions of birthweight and insulin sensitivity to circulating adiponectin in children born small for gestational age (SGA). DESIGN:Cross-sectional,...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.2004.02102.x
更新日期:2004-09-01 00:00:00
abstract::Nine acromegalic patients were treated by the somatostatin analogue SMS 201-995 octreotide (Sandostatin (octreotide), Sandoz, Basle, Switzerland] 250 micrograms/day in 4 divided s.c. injections (50 + 50 + 50 + 100 micrograms) for 1 month, 250 micrograms/24 has continuous s.c. infusions for another month and thereafter...
journal_title:Clinical endocrinology
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1111/j.1365-2265.1989.tb00266.x
更新日期:1989-06-01 00:00:00
abstract:OBJECTIVES:The aim of this study was to examine (1) the diurnal variation in SHBG and (2) the inter-relationships of insulin, IGF-I, SHBG and IGFBP-1 over 24 hours in 10 women with anovulatory PCOS and compare them with weight-matched ovulatory controls. PATIENTS AND METHODS:The two groups comprised 10 anovulatory wom...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1995.tb01910.x
更新日期:1995-08-01 00:00:00
abstract::The purpose of this study was to assess the normal relationship between plasma ACTH and cortisol during insulin induced hypoglycaemia. Twenty-six healthy persons were studied. Peak plasma concentration and the amounts of ACTH and cortisol secreted during hypoglycaemia were compared. There was no significant correlatio...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1978.tb02222.x
更新日期:1978-10-01 00:00:00
abstract::The opiate control of the pituitary-adrenal axis has been investigated in normal subjects. The infusion of 1 mg of the met-enkephalin analogue, DAMME, led to a fall in circulating cortisol in spite of a fall in blood pressure. Conversley, 16 mg of the opiate antagonist, naloxone led to brisk and pronounced elevations ...
journal_title:Clinical endocrinology
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1111/j.1365-2265.1982.tb01590.x
更新日期:1982-09-01 00:00:00
abstract:OBJECTIVE:The protein polymorphism of the GH receptor caused by genomic deletion of exon 3 (d3) has been linked to the magnitude of the first-year-growth response to GH in girls with Turner syndrome. Here, we studied the long-term effect of GH therapy in Turner syndrome in correlation to this polymorphism. DESIGN:The ...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.2007.03090.x
更新日期:2008-04-01 00:00:00
abstract::The glucocorticoid hormone cortisol is released in pulses resulting in a complex and dynamic ultradian rhythm of plasma cortisol that underlies the classical circadian rhythm. These oscillating levels are also seen at the level of tissues such as the brain and trigger pulses of gene activation and downstream signallin...
journal_title:Clinical endocrinology
pub_type: 临床试验,杂志文章
doi:10.1111/cen.12470
更新日期:2014-08-01 00:00:00
abstract:BACKGROUND:The Interleukin (IL)-10 polymorphic variants -1082G/A, -819C/T and -592C/A were linked with obesity, metabolic syndrome, and type 2 diabetes (T2DM). We investigated the hypothesis that IL-10 promoter polymorphisms may be associated with the progression of diabetic nephropathy (DN). DESIGN:Case-controlled st...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.2008.03337.x
更新日期:2009-03-01 00:00:00
abstract:BACKGROUND:To improve the diagnostic sensitivity of PTH measurements, more data on the upper limit of the reference interval for PTH levels were requested at a recent international consensus conference. As PTH levels vary inversely with plasma 25-hydroxyvitamin D (25OHD) levels and as vitamin D insufficiency is widespr...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.2010.03894.x
更新日期:2011-01-01 00:00:00
abstract:OBJECTIVE:There is increasing evidence for the role of cytokines in pituitary differentiated function and tumorigenesis, but the spectrum of cytokines found in the pituitary is unknown. Therefore profiles of cytokine expression were determined in different human anterior pituitary adenoma sub-types. DESIGN:The reverse...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1046/j.1365-2265.1996.d01-1554.x
更新日期:1996-08-01 00:00:00
abstract:CONTEXT:In recent years, an association has been noted between several abnormalities that characterize the metabolic syndrome (MetS) and primary hyperparathyroidism (pHPT). These abnormalities include dyslipidaemia, obesity, insulin resistance and hypertension. The correlations between plasma calcium, parathyroid hormo...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.2009.03558.x
更新日期:2009-11-01 00:00:00
abstract::We report the case of a male infant who at 10 days of life presented with salt-wasting. Congenital adrenal hyperplasia was excluded on the basis of normal 17 alpha-hydroxy-progesterone plasma levels evaluated before the onset of steroid replacement therapy. The incidental finding of hypertriglyceridaemia led us to sus...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1995.tb02655.x
更新日期:1995-04-01 00:00:00
abstract:BACKGROUND:Assessment of the hypothalamic-pituitary-adrenal (HPA) axis after pituitary surgery is important for appropriate decision making regarding replacement therapy. The synacthen test is often used but is questioned, as time has to elapse for adrenal atrophy to develop. OBJECTIVE:To audit the use of the 250 micr...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.2005.02368.x
更新日期:2005-11-01 00:00:00
abstract:OBJECTIVES:There is no licensed, dose-appropriate formulation of hydrocortisone for children with adrenal insufficiency (AI) and patients rely on compounded adult medication. The aim of this study was to evaluate the absorption, palatability and safety of Infacort® , an immediate-release, granule formulation of hydroco...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/cen.13447
更新日期:2018-01-01 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::Normal men and normally menstruating women received i.m. injections of 0.1 to 4.0 mg/kg sulpiride. This psychotropic drug induced a very rapid (already significant after 5 minutes) and sustained (still significant after 7 hours) elevation of prolactin (PRL) concentrations in all subjects with no consistent modificatio...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1978.tb02200.x
更新日期:1978-09-01 00:00:00