Abstract:
BACKGROUND/AIMS:Splicing CYP19 gene variants causing aromatase deficiency in 46,XX disorder of sexual development (DSD) patients have been reported in a few cases. A misbalance between normal and aberrant splicing variants was proposed to explain spontaneous pubertal breast development but an incomplete sex maturation progress. The aim of this study was to functionally characterize a novel CYP19A1 intronic homozygote mutation (IVS9+5G>A) in a 46,XX DSD girl presenting spontaneous breast development and primary amenorrhea, and to evaluate similar splicing variant expression in normal steroidogenic tissues. METHODS:Genomic DNA analysis, splicing prediction programs, splicing assays, and in vitro protein expression and enzyme activity analyses were carried out. CYP19A1 mRNA expression in human steroidogenic tissues was also studied. RESULTS:A novel IVS9+5G>A homozygote mutation was found. In silico analysis predicts the disappearance of the splicing donor site in intron 9, confirmed by patient peripheral leukocyte cP450arom and in vitro studies. Protein analysis showed a shorter and inactive protein. The intron 9 transcript variant was also found in human steroidogenic tissues. CONCLUSIONS:The mutation IVS9+5G>A generates a splicing variant that includes intron 9 which is also present in normal human steroidogenic tissues, suggesting that a misbalance between normal and aberrant splicing variants might occur in target tissues, explaining the clinical phenotype in the affected patient.
journal_name
Horm Res Paediatrjournal_title
Hormone research in paediatricsauthors
Saraco N,Nesi-Franca S,Sainz R,Marino R,Marques-Pereira R,La Pastina J,Perez Garrido N,Sandrini R,Rivarola MA,de Lacerda L,Belgorosky Adoi
10.1159/000437142subject
Has Abstractpub_date
2015-01-01 00:00:00pages
275-82issue
4eissn
1663-2818issn
1663-2826pii
000437142journal_volume
84pub_type
杂志文章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
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更新日期:2019-01-01 00:00:00
abstract:INTRODUCTION:Hair cortisol concentrations (HCC) have been found to be related to various common childhood diseases, like otitis media, conjunctivitis, respiratory viral infections, and asthma. However, the confounding effects of age, gender, body mass index (BMI), pubertal stage (Tanner stages), socioeconomic status (S...
journal_title:Hormone research in paediatrics
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更新日期:2019-01-01 00:00:00
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journal_title:Hormone research in paediatrics
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journal_title:Hormone research in paediatrics
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doi:10.1159/000313587
更新日期:2010-01-01 00:00:00
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journal_title:Hormone research in paediatrics
pub_type: 杂志文章
doi:10.1159/000382016
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abstract:BACKGROUND/AIMS:Vitamin D deficiency is common in children with neurodisabilities. Oral vitamin D3 may not be absorbed appropriately due to dysphagia and tube feeding. The aim of this study was to compare efficacy of vitamin D3 buccal spray with that of oral drops. METHODS:Twenty-four children with neurodisabilities (...
journal_title:Hormone research in paediatrics
pub_type: 杂志文章,随机对照试验
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journal_title:Hormone research in paediatrics
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doi:10.1159/000357141
更新日期:2014-01-01 00:00:00
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journal_title:Hormone research in paediatrics
pub_type: 临床试验,杂志文章,多中心研究
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更新日期:2018-01-01 00:00:00
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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
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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:PURPOSE:A high incidence of menstrual problems is reported in adolescent girls, with significant attendant morbidity. The majority are likely to be seen and managed by doctors other than specialist gynaecologists. This study aimed to survey the practice of doctors other than gynaecologists, to establish their chosen th...
journal_title:Hormone research in paediatrics
pub_type: 临床试验,杂志文章
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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
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journal_title:Hormone research in paediatrics
pub_type: 杂志文章
doi:10.1159/000328454
更新日期:2011-01-01 00:00:00
abstract:BACKGROUND/AIMS:Former definitions of metabolic syndrome (MS) in children have been adapted from adult MS definitions using age-related thresholds for each biochemical component, whereas the International Diabetes Federation (IDF) definition is based on absolute values. We compared the IDF childhood MS definition (IDF-...
journal_title:Hormone research in paediatrics
pub_type: 杂志文章
doi:10.1159/000284359
更新日期:2010-01-01 00:00:00
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journal_title:Hormone research in paediatrics
pub_type: 杂志文章
doi:10.1159/000355508
更新日期:2014-01-01 00:00:00
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journal_title:Hormone research in paediatrics
pub_type: 杂志文章
doi:10.1159/000315904
更新日期:2011-01-01 00:00:00
abstract:BACKGROUND/AIMS:Newborn screening protocols for congenital hypothyroidism (CH) vary as to whether a TSH or T4 algorithm or some combination is performed. We aimed to determine the 3-year clinical outcome of infants diagnosed with CH and screen-positive for CH using a 2-screen protocol that measures both T4 and TSH on a...
journal_title:Hormone research in paediatrics
pub_type: 临床试验,杂志文章
doi:10.1159/000501395
更新日期:2019-01-01 00:00:00
abstract::Minipuberty describes the transient sex-specific activation of the hypothalamic-pituitary-gonadal (HPG) axis during the first 6 months of life in boys and during the first 2 years in girls. It leads to a rise of luteinizing hormone, follicle-stimulating hormone, estradiol, and testosterone. The existence of minipubert...
journal_title:Hormone research in paediatrics
pub_type: 杂志文章,评审
doi:10.1159/000508329
更新日期:2020-01-01 00:00:00
abstract:BACKGROUND:Significant idiopathic bone age (BA) advancement is defined as BA >2 SD above the mean chronological age (CA) with no underlying etiology. BA advancement due to endocrinopathies is associated with early puberty and compromised adult height (AHt), necessitating treatment. The natural history of idiopathic BA ...
journal_title:Hormone research in paediatrics
pub_type: 杂志文章
doi:10.1159/000319315
更新日期:2011-01-01 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
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journal_title:Hormone research in paediatrics
pub_type: 杂志文章,评审
doi:10.1159/000324442
更新日期:2011-01-01 00:00:00
abstract:BACKGROUND:Hyperandrogenism is a rare symptom of juvenile ovarian granulosa cell- tumors (JGCTO). This study aimed to determine whether hyperandrogenism was related to overexpression of SOX9, decreased expression of FOXL2 or absent aromatase expression in tumor with particular scheme of expression of P450scc and P450c1...
journal_title:Hormone research in paediatrics
pub_type: 杂志文章
doi:10.1159/000313396
更新日期:2010-01-01 00:00:00
abstract:BACKGROUND:Congenital hypothyroidism is a common congenital endocrine disorder prevailing all over the world. No nationwide screening exists for any sub-Saharan country. We present normative cord and capillary thyroid-stimulating hormone (TSH) values for healthy Nigerian newborns. SUBJECTS AND METHODS:A cross-sectiona...
journal_title:Hormone research in paediatrics
pub_type: 临床试验,杂志文章,多中心研究
doi:10.1159/000441722
更新日期:2016-01-01 00:00:00
abstract::Leydig cell testicular tumors are very rare in children. They can present as gonadotropin-independent precocious puberty due to excess androgen secretion. We report the case of an 8-year-old boy with isosexual precocity whose hormonal investigation showed luteinizing hormone-independent testosterone hypersecretion. Al...
journal_title:Hormone research in paediatrics
pub_type: 杂志文章
doi:10.1159/000358084
更新日期:2014-01-01 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:Hypothalamic hamartomas are the most common identifiable cause of central precocious puberty (CPP). Hamartoma characteristics proposed to be associated with CPP include specific anatomic features and expression of molecules such as gonadotropin-releasing hormone (GnRH), transforming growth factor alpha ...
journal_title:Hormone research in paediatrics
pub_type: 杂志文章
doi:10.1159/000308162
更新日期:2010-01-01 00:00:00
abstract:BACKGROUND/AIMS:Mutations in the human growth hormone receptor gene (GHR) are the most common cause of growth hormone insensitivity (GHI) syndrome and insulin-like growth factor (IGF-1) deficiency. The extracellular domain of GHR (encoded by exons 2-7 of the GHR gene) can be proteolytically cleaved to circulate as GH-b...
journal_title:Hormone research in paediatrics
pub_type: 杂志文章
doi:10.1159/000355404
更新日期:2013-01-01 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:The cosyntropin stimulation study (CSS) measures the patient's ability to adequately mount a cortisol response. Clinically, CSS results may not be used to guide hydrocortisone use. The objective of this study was to examine how the CSS results are associated with clinical parameters, mortality/disease severi...
journal_title:Hormone research in paediatrics
pub_type: 杂志文章
doi:10.1159/000484561
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