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 fertility has been reported in females harboring NR5A1 gene mutations, fertility has only been observed in one reported case in affected 46,XY individuals. A kindred with multiple affected members presenting gonadal dysgenesis was studied. Four 46,XY individuals presented severe hypospadias at birth, one of them associated with micropenis and cryptorchidism. The other 3 developed spontaneous male puberty, and 1 has fathered 5 children. Four 46,XX patients presented premature ovarian failure (one of them was not available for the study) or high follicle-stimulating hormone levels. Mutational analysis of the NR5A1 gene revealed a novel heterozygous mutation, c.938G→A, predicted to cause a p.Arg313Hys amino acid change. A highly conserved amino acid of the ligand-binding domain of the mature protein is affected, predicting abnormal protein function. We confirm that preserved fertility can be observed in patients with a 46,XY disorder of sex development due to heterozygous mutations in the NR5A1 gene.
journal_name
Horm Res Paediatrjournal_title
Hormone research in paediatricsauthors
Ciaccio M,Costanzo M,Guercio G,De Dona V,Marino R,Ramirez PC,Galeano J,Warman DM,Berensztein E,Saraco N,Baquedano MS,Chaler E,Maceiras M,Lazzatti JM,Rivarola MA,Belgorosky Adoi
10.1159/000338346subject
Has Abstractpub_date
2012-01-01 00:00:00pages
119-26issue
2eissn
1663-2818issn
1663-2826pii
000338346journal_volume
78pub_type
临床试验,杂志文章abstract::Hypothalamic obesity (HO) frequently occurs following damage to the medial hypothalamic region, encompassing the arcuate nucleus, the paraventricular nucleus, the ventromedial nucleus, the dorsomedial nucleus, and the dorsal hypothalamic area, which are critically involved in the regulation of satiety and energy balan...
journal_title:Hormone research in paediatrics
pub_type: 杂志文章,评审
doi:10.1159/000496564
更新日期:2019-01-01 00:00:00
abstract:AIMS:To examine the cross-sectional relationship between blood pressure (BP) and (1) in vivo insulin sensitivity (IS) and (2) circulating adiponectin levels in overweight adolescents, and to determine if these relationships are driven by adiposity. METHODS:Sixty-five white pubertal overweight adolescents underwent a h...
journal_title:Hormone research in paediatrics
pub_type: 杂志文章
doi:10.1159/000331462
更新日期:2011-01-01 00:00:00
abstract:BACKGROUND/AIMS:Genetic variation in several candidate genes has been associated with short stature. Recently, a high-mobility group A2 (HMGA2) gene SNP has been robustly associated with height in the general population. Only few have attempted to study these genes in extremely tall stature. We therefore studied common...
journal_title:Hormone research in paediatrics
pub_type: 杂志文章
doi:10.1159/000330764
更新日期:2011-01-01 00:00:00
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journal_title:Hormone research in paediatrics
pub_type: 杂志文章
doi:10.1159/000329549
更新日期:2011-01-01 00:00:00
abstract::The diagnosis of childhood-onset growth hormone (GH) deficiency (GHD) is not straightforward, requiring a comprehensive clinical, anthropometric, biochemical, endocrine, and neuroradiological assessment. Although pharmacological GH stimulation tests are still considered the gold standard for GHD diagnosis, they are bu...
journal_title:Hormone research in paediatrics
pub_type: 杂志文章
doi:10.1159/000314895
更新日期:2010-01-01 00:00:00
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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::Prenatal treatment of congenital adrenal hyperplasia with dexamethasone (DEX) has been in use since the mid-1980s and has proven effective at reducing virilization of external genitalia in affected girls. However, multiple experimental studies on animals and clinical studies on humans show that prenatal administration...
journal_title:Hormone research in paediatrics
pub_type: 杂志文章,评审
doi:10.1159/000485100
更新日期:2018-01-01 00:00:00
abstract:BACKGROUND:Ectopic intrathyroidal thymus has recently been reported in children as a cause of surgery and/or invasive diagnostic procedures when mistaken for a thyroid nodule. Thymus has a unique appearance at ultrasound (US). METHODS:We report a follow-up study (mean 34 months, range 6-84) performed by US on 9 childr...
journal_title:Hormone research in paediatrics
pub_type: 杂志文章
doi:10.1159/000322441
更新日期:2011-01-01 00:00:00
abstract:AIMS:Hyperinsulinemic hypoglycemia (HH) is common in small-for-gestational-age (SGA) neonates. Diazoxide is often used as the first-line medication for HH in SGA neonates. Unfortunately, diazoxide is not authorized in China. We examined the effectiveness of octreotide as an alternative therapy to treat HH in SGA neonat...
journal_title:Hormone research in paediatrics
pub_type: 杂志文章
doi:10.1159/000441108
更新日期:2015-01-01 00:00:00
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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: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
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journal_title:Hormone research in paediatrics
pub_type:
doi:10.1159/000491102
更新日期:2019-01-01 00:00:00
abstract::Infantile Cushing's syndrome is potentially found as part of McCune-Albright syndrome (MAS) which is caused by postzygotic somatic mutations of the GNAS gene. MAS is typically characterized by a triad of polyostotic fibrous dysplasia, café-au-lait skin pigmentation, and precocious puberty or other endocrine hyperfunct...
journal_title:Hormone research in paediatrics
pub_type:
doi:10.1159/000501169
更新日期:2019-01-01 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:The steroidogenic acute regulatory protein (StAR) is essential for steroidogenesis by mediating cholesterol transfer into mitochondria. Inactivating StAR mutations cause lipoid congenital adrenal hyperplasia. OBJECTIVE AND METHODS:To identify causative mutations in a patient presenting with adrenal failure ...
journal_title:Hormone research in paediatrics
pub_type: 临床试验,杂志文章
doi:10.1159/000354086
更新日期:2013-01-01 00:00:00
abstract:BACKGROUND:Glycogen storage disease type 1 (GSD1) is a rare and genetically heterogeneous metabolic defect of gluconeogenesis due to mutations of either the G6PC gene (GSD1a) or the SLC37A4 gene (GSD1b). Osteopenia is a known complication of GSD1. OBJECTIVES:The aim of this study was to investigate the effects of poor...
journal_title:Hormone research in paediatrics
pub_type: 杂志文章,多中心研究
doi:10.1159/000351022
更新日期:2014-01-01 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:Congenital primary hypothyroidism (CH) is the most common endocrine disorder in neonates. METHODS:To identify novel genes, we performed whole exome sequencing (WES) in 6 patients with CH due to thyroid dysgenesis (TD). The potential effects of the most relevant variants were analyzed using in silico predict...
journal_title:Hormone research in paediatrics
pub_type: 杂志文章
doi:10.1159/000507114
更新日期:2020-01-01 00:00:00
abstract:BACKGROUND:Early detection of suspected poor adherence to growth hormone (GH) therapy is crucial to achieve normal final height in GH-deficient (GHD) patients. PATIENTS:106 children (73 M, 33 F) with a median age of 10.47±3.48 years (mean±standard deviation score (SDS)) exhibited short stature (-1.76±0.64 SDS) and a d...
journal_title:Hormone research in paediatrics
pub_type: 杂志文章
doi:10.1159/000357975
更新日期:2014-01-01 00:00:00
abstract:BACKGROUND/AIMS:We obtained reference data for testicular volume measured by ultrasound in asymptomatic boys aged 0.5-18 years. In addition, we assessed the validity of the Prader orchidometer per age group by correlating it with the volume measurement by ultrasound. METHODS:The study only included healthy boys with t...
journal_title:Hormone research in paediatrics
pub_type: 杂志文章
doi:10.1159/000326057
更新日期:2011-01-01 00:00:00
abstract::Feeding problems are frequent in infants with congenital hyperinsulinism (HI) and may be exacerbated by continuous enteral nutrition (EN) used to maintain euglycemia. Our center's HI team uses dextrose solution given continuously via gastric tube (intrasgastric dextrose, IGD) for infants not fully responsive to conven...
journal_title:Hormone research in paediatrics
pub_type: 临床试验
doi:10.1159/000491105
更新日期:2019-01-01 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:BACKGROUND/AIM:It was the aim of this study to evaluate subtle adrenocorticotropic hormone deficiencies in a group of patients with idiopathic growth hormone deficiency and without thyroid-stimulating hormone deficiency. METHODS:Growth hormone and cortisol responses to an insulin tolerance test of 25 patients (15 male...
journal_title:Hormone research in paediatrics
pub_type: 杂志文章
doi:10.1159/000320479
更新日期:2011-01-01 00:00:00
abstract::Loss-of-function mutations in the gene encoding the makorin RING finger protein 3 (MKRN3) have recently been reported to underlie familial cases of central precocious puberty (CPP). The imprinted MKRN3 gene is expressed only from the paternal allele, and mutations inherited from the father affect boys and girls equall...
journal_title:Hormone research in paediatrics
pub_type: 杂志文章
doi:10.1159/000362815
更新日期:2014-01-01 00:00:00
abstract::The US Food and Drug Administration approved use of recombinant human growth hormone (GH) for the treatment of idiopathic short stature (ISS) in children; however, few studies have evaluated metabolic outcomes. This article addresses whether children with ISS treated with GH experience the same metabolic benefits as c...
journal_title:Hormone research in paediatrics
pub_type: 杂志文章,评审
doi:10.1159/000330165
更新日期:2011-01-01 00:00:00
abstract:BACKGROUND:The prevalence of food allergy in children is increasing worldwide. Strict avoidance of identified allergens from the diet is still the cornerstone of the management of food allergies. There are widespread concerns that food allergy and elimination diet may predispose children to nutrient deficiencies and gr...
journal_title:Hormone research in paediatrics
pub_type: 杂志文章,评审
doi:10.1159/000462973
更新日期:2017-01-01 00:00:00
abstract:BACKGROUND:Diazoxide is the first-line treatment for pediatric hyperinsulinemic hypoglycemia (HI). This study aimed to elucidate the pharmacokinetics of diazoxide in children with HI. METHODS:We obtained 81 blood samples from 22 children with HI. Measured serum diazoxide concentrations were used for population pharmac...
journal_title:Hormone research in paediatrics
pub_type: 杂志文章
doi:10.1159/000478696
更新日期:2017-01-01 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
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/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