Abstract:
AIMS:To evaluate auxological parameters in children and adults with a 22q11.2 microdeletion syndrome (22q11.2 DS) and to compare prevalence of obesity to that in the French general population. METHODS:102 patients with 22q11.2 DS (49 males, 53 females) were recruited from birth to adulthood through a reference center in southern France. RESULTS:Mean BMI Z score and mean height were normal (0.07 ± 1.49 SD, -0.87 ± 1.36 SDS, respectively). 16.1% of patients were overweight (including obese), 57% out of them being born small for gestational age for length versus 25% of non-overweight patients. During infancy, BMI increased in girls (+0.89 SD Z score). Childhood: 14.7% were overweight, prevalence similar to that of the in French children population. Adulthood: 19.2% were overweight. BMI Z scores were inversely correlated with neonatal length (p = 0.026) and female sex (p = 0.032) but positively associated with neonatal weight (p = 0.036). From analysis of neonatal data, 22q11.2 DS newborns were significantly shorter with regard to their weight (p < 0.01), even though mean neonatal measures were above -2 SDS. CONCLUSIONS:Our study did not find a higher prevalence of overweight in 22q11.2 DS to that in the French population. The BMI Z score was inversely correlated with neonatal length and female gender but positively associated with neonatal weight.
journal_name
Horm Res Paediatrjournal_title
Hormone research in paediatricsauthors
Reynaud R,Derain-Court J,Braunstein D,Veyrat M,Gaudart J,Giuliano F,Philip Ndoi
10.1159/000328454subject
Has Abstractpub_date
2011-01-01 00:00:00pages
172-7issue
3eissn
1663-2818issn
1663-2826pii
000328454journal_volume
76pub_type
杂志文章abstract:BACKGROUND:The risk factors for rapid growth and early metastasis of papillary thyroid carcinoma (PTC) and the role of coexisting Graves' disease in the clinical course of PTC remain uncertain in children. CASE DESCRIPTION:We report on a Japanese girl, whose PTC rapidly grew and metastasized within 4 years. Graves' di...
journal_title:Hormone research in paediatrics
pub_type:
doi:10.1159/000491102
更新日期:2019-01-01 00:00:00
abstract:BACKGROUND/AIM:In adults, studies have shown that obesity is a chronic low-grade inflammatory state characterized by altered levels of cytokines. Studies in children have mainly focused on C-reactive protein and adiponectin, and there is limited data for other inflammatory markers in healthy weight and overweight child...
journal_title:Hormone research in paediatrics
pub_type: 杂志文章
doi:10.1159/000277632
更新日期:2010-01-01 00:00:00
abstract:INTRODUCTION:Obesity is increasing among the pregnant population. Leptin has an important role in the regulation of energy balance and hunger. The aim of this study was to investigate the association between maternal leptin levels with maternal obesity, gestational weight gain (GWG), single nucleotide polymorphisms (SN...
journal_title:Hormone research in paediatrics
pub_type: 临床试验,杂志文章
doi:10.1159/000503422
更新日期:2019-01-01 00:00:00
abstract:BACKGROUND/AIMS:To study serum testosterone and estradiol in healthy boys in relation to growth during puberty up to peak height velocity (PHV). METHODS:Growth velocity was analyzed through testosterone (n = 41) and 17β-estradiol (n = 37) 24-hour profiles in a dose-response model. Participants were 26 healthy boys adm...
journal_title:Hormone research in paediatrics
pub_type: 杂志文章
doi:10.1159/000353761
更新日期:2013-01-01 00:00:00
abstract:BACKGROUND/AIMS:Primary insulin-like growth factor-1 (IGF-1) deficiency (IGFD) is defined by low levels of IGF-1 without growth hormone (GH) deficiency and absence of secondary causes. The aim of this study was to evaluate IGF-1 in Egyptian children with idiopathic short stature (ISS) and describe patients with IGFD. ...
journal_title:Hormone research in paediatrics
pub_type: 杂志文章
doi:10.1159/000350824
更新日期:2013-01-01 00:00:00
abstract::In newborns and infants, dehydration and salt wasting represent a relatively common cause of admission to hospital and may result in life-threatening complications. Kidneys are responsible for electrolyte homoeostasis, but neonatal kidneys show low glomerular filtration rate and immaturity of the distal nephron, leadi...
journal_title:Hormone research in paediatrics
pub_type: 杂志文章
doi:10.1159/000449057
更新日期:2016-01-01 00:00:00
abstract::Disorders of adrenal steroidogenesis comprise autosomal recessive conditions affecting steroidogenic enzymes of the adrenal cortex. Those are located within the 3 major branches of the steroidogenic machinery involved in the production of mineralocorticoids, glucocorticoids, and androgens. This mini review describes t...
journal_title:Hormone research in paediatrics
pub_type: 杂志文章,评审
doi:10.1159/000488034
更新日期:2018-01-01 00:00:00
abstract:BACKGROUND:The paradox of pituitary tumours is that persistent growth is so atypical. By definition, all pituitary microadenomas regain complete trophic stability after an initial period of deregulated growth. Unlike tumours in many other organ systems, concern about significant growth of macroadenoma remnants after de...
journal_title:Hormone research in paediatrics
pub_type:
doi:10.1159/000329114
更新日期:2011-01-01 00:00:00
abstract:BACKGROUND:Most isodicentric (Xp) and (Xq) chromosomes occur as a mosaic with a 45,X cell line. Patients with a nonmosaic 46,X,idic(Xq) are rare. CASES:The first girl was referred at 13 years with a short stature and pubertal delay (M1, P2, A1). Her height was 141.6 cm (-3.1 SDS). Ovarian failure was present. The seco...
journal_title:Hormone research in paediatrics
pub_type: 杂志文章
doi:10.1159/000357141
更新日期:2014-01-01 00:00:00
abstract::In humans, steroidogenic factor 1 (NR5A1/SF-1) mutations have been reported to cause gonadal dysgenesis, with or without adrenal failure, in both 46,XY and 46,XX individuals. We have previously reported extreme within-family variability in affected 46,XY patients. Even though low ovarian reserve with preserved fertili...
journal_title:Hormone research in paediatrics
pub_type: 临床试验,杂志文章
doi:10.1159/000338346
更新日期:2012-01-01 00:00:00
abstract:BACKGROUND:Papillary thyroid cancer (PTC) is an uncommon pediatric disease with an excellent prognosis. In follow-up surveillance, neck ultrasound (US), basal and thyroid-stimulating hormone-stimulated serum thyroglobulin (Tg) levels, and diagnostic whole-body radioactive iodine scans (DxWBS) have been traditionally us...
journal_title:Hormone research in paediatrics
pub_type:
doi:10.1159/000487436
更新日期:2018-01-01 00:00:00
abstract:BACKGROUND/AIMS:Syndromes of reduced sensitivity to thyroid hormone can be caused by innate resistance to thyroid hormone (RTH), thyroid hormone cell transporter defects, or thyroid hormone metabolism defects. This study was performed to describe clinical, endocrinological, and molecular characteristics of patients wit...
journal_title:Hormone research in paediatrics
pub_type: 杂志文章
doi:10.1159/000493468
更新日期:2018-01-01 00:00:00
abstract:BACKGROUND/AIM:Four SNPs (E10SNP24, E10SNP158, E12SNP, E33SNP) in the Tg gene are suspected to be involved in the development of autoimmune thyroid diseases. The aim of the study was to determine whether these variants play a role in the development of Hashimoto's thyroiditis in young subjects with type 1 diabetes, in ...
journal_title:Hormone research in paediatrics
pub_type: 杂志文章
doi:10.1159/000284388
更新日期:2010-01-01 00:00:00
abstract:OBJECTIVES:Long-term clinical follow-up and mutation analysis were performed in 27 Chinese congenital hyperinsulinism patients. METHOD:27 hypoglycemia patients were diagnosed with CHI within 2 years of age. The long-term clinical outcome was analyzed and mutation analysis of 5 hyperinsulinism candidate genes was perfo...
journal_title:Hormone research in paediatrics
pub_type: 临床试验,杂志文章
doi:10.1159/000356911
更新日期:2014-01-01 00:00:00
abstract:BACKGROUND:Combined pituitary hormone deficiency (CPHD) presents a wide spectrum of pituitary gland disorders. The postnatal gonadotropic surge provides a useful period to explore the gonadotropic axis for assessing the presence of congenital hypogonadotropic hypogonadism (CHH). AIM:To explore the functioning of the h...
journal_title:Hormone research in paediatrics
pub_type: 杂志文章
doi:10.1159/000439051
更新日期:2015-01-01 00:00:00
abstract::The thyroid hormone (TH) system plays a central role in central physiological processes of many species, including mammals and humans, ranging from growth and cell differentiation, energy metabolism, thermoregulation and phasing of hibernation or annual movements of migratory species, metamorphosis from larvae to adul...
journal_title:Hormone research in paediatrics
pub_type: 杂志文章,评审
doi:10.1159/000443501
更新日期:2016-01-01 00:00:00
abstract:BACKGROUND:3β-hydroxysteroid dehydrogenase (3βHSD) type 2 (encoded by HSD3B2) is expressed in the adrenals and gonads. HSD3B2 mutations cause the rare form of congenital adrenal hyperplasia '3βHSD deficiency'. In its classic form, affected individuals have salt wasting early in infancy and may have ambiguous genitalia ...
journal_title:Hormone research in paediatrics
pub_type: 杂志文章
doi:10.1159/000336004
更新日期:2012-01-01 00:00:00
abstract:BACKGROUND:Partial duplication of 2p is a rare condition that causes facial anomalies, psychomotor delay, and growth failure. Hypercalcaemia is rare in children. So far, duplication of 2p has never been associated with hypercalcaemia. METHODS:Here, we report a girl with a partial duplication of 2p presenting with mode...
journal_title:Hormone research in paediatrics
pub_type: 杂志文章
doi:10.1159/000442747
更新日期:2016-01-01 00:00:00
abstract:BACKGROUND:Hypercalcemia of immobilization, while rare, may occur in adolescent boys after fracture. Although not fully understood, the mechanism appears to be related to bone turnover uncoupling, in part mediated by upregulation of RANKL. Animal studies suggest that parathyroidectomy suppresses RANKL-stimulated osteoc...
journal_title:Hormone research in paediatrics
pub_type: 杂志文章
doi:10.1159/000446316
更新日期:2016-01-01 00:00:00
abstract:BACKGROUND/AIM:Combined growth hormone (GH) and insulin therapy is rarely prescribed by pediatric endocrinologists. We investigated the attitude of Italian physicians to prescribing that therapy in the case of short stature and type-1 diabetes (T1DM). METHODS:A questionnaire was sent and if a patient was identified, d...
journal_title:Hormone research in paediatrics
pub_type: 杂志文章,多中心研究
doi:10.1159/000360856
更新日期:2014-01-01 00:00:00
abstract:BACKGROUND/AIMS:Type 1 diabetes (T1DM) is associated with gastric autoimmunity, which is characterized by the presence of parietal cell antibodies (APCA). We investigated gastric autoimmunity prevalence in T1DM children, its manifestations, determinants and association with thyroid gland (anti-Tg, anti-TPO) and pancrea...
journal_title:Hormone research in paediatrics
pub_type: 杂志文章
doi:10.1159/000336923
更新日期:2012-01-01 00:00:00
abstract:BACKGROUND AND OBJECTIVE:Woodhouse-Sakati syndrome (WSS) is a rare autosomal-recessive disorder characterized by a combination of hypogonadism, alopecia, diabetes mellitus (DM), mental retardation and extrapyramidal signs, not described previously in Israel. Our aim was to study the clinical and genetic characteristics...
journal_title:Hormone research in paediatrics
pub_type: 杂志文章
doi:10.1159/000323441
更新日期:2011-01-01 00:00:00
abstract:BACKGROUND/AIMS:To evaluate effects of growth hormone (GH) treatment on behaviour and psychosocial characteristics in short-stature children. METHODS:99 referred prepubertal non-familiar short-stature children (32 GH deficiency; 67 idiopathic short stature) aged 3-11 years, randomized to fixed or individual GH doses a...
journal_title:Hormone research in paediatrics
pub_type: 杂志文章,多中心研究,随机对照试验
doi:10.1159/000322937
更新日期:2011-01-01 00:00:00
abstract::Hepatic haemiangiomas in infancy are rare. An association with hypothyroidism has been previously reported and is believed to be secondary to the conversion of thyroxine (fT4) to biologically inactive reverse triiodothyronine (rT3) by type 3 iodothyronine deiodinase (D3). We report a case that responded well to the co...
journal_title:Hormone research in paediatrics
pub_type: 杂志文章
doi:10.1159/000281884
更新日期:2010-01-01 00:00:00
abstract:BACKGROUND:Effective treatment and close monitoring in children with congenital hyperinsulinism (HI) are important to prevent hypoglycemic-associated brain damage. The current monitoring approach involves measuring plasma glucose intermittently, but this does not provide a comprehensive assessment of glycemic control a...
journal_title:Hormone research in paediatrics
pub_type: 临床试验,杂志文章
doi:10.1159/000506230
更新日期:2019-01-01 00:00:00
abstract:AIM:Our aim was to investigate the relationships between the degree of IGF2 methylation and the metabolic status in obese children and adolescents. SUBJECTS AND METHODS:Eighty-five obese subjects aged 11.6 ± 2.1 years were studied. Anthropometry, metabolic parameters, blood pressure and body composition were assessed....
journal_title:Hormone research in paediatrics
pub_type: 杂志文章
doi:10.1159/000351707
更新日期:2013-01-01 00:00:00
abstract:INTRODUCTION:Although growth hormone (GH) is essential for attainment of peak bone mass, bone health in prepubertal children with GH deficiency is not routinely evaluated. The objective of this study was to evaluate bone microarchitecture in GH-deficient (GHD) boys using high-resolution peripheral quantitative computed...
journal_title:Hormone research in paediatrics
pub_type: 杂志文章
doi:10.1159/000506229
更新日期:2019-01-01 00:00:00
abstract::The detection of testosterone-producing ovarian tumors in childhood and adolescence by imaging techniques only can be difficult because of the tumors' radiological structure and sometimes diminutive size. We describe an 11.5-year-old girl with a 9-month history of voice deepening, mild hirsutism, minor acne, increased...
journal_title:Hormone research in paediatrics
pub_type: 杂志文章
doi:10.1159/000339683
更新日期:2013-01-01 00:00:00
abstract::Following the introduction of life-saving glucocorticoid replacement 60 years ago, congenital adrenal hyperplasia (CAH) has evolved from being perceived as a paediatric disorder to being recognized as a lifelong, chronic condition affecting patients of all age groups. Increasing evidence suggests that patients with CA...
journal_title:Hormone research in paediatrics
pub_type: 杂志文章,评审
doi:10.1159/000327794
更新日期:2011-01-01 00:00:00
abstract::3-M syndrome is an autosomal recessive primordial growth disorder characterised by severe postnatal growth restriction caused by mutations in CUL7, OBSL1 or CCDC8. Clinical characteristics include dysmorphic facial features and fleshy prominent heels with a variable degree of radiological abnormalities. CUL7 is a stru...
journal_title:Hormone research in paediatrics
pub_type: 杂志文章,评审
doi:10.1159/000334392
更新日期:2011-01-01 00:00:00