Abstract:
INTRODUCTION:46,XX ovotesticular disorder of sex development (DSD), as defined by the Chicago consensus in 2006, is characterized by histologically confirmed testicular and ovarian tissue in an individual with a 46,XX karyotype and a wide phenotypic spectrum from female to male appearance. CASE PRESENTATION:We report the case of two 46,XX sex determining region Y (SRY) gene-negative siblings and their 46,XY father with an approximately 150 kilobase pair (kbp) duplication upstream of SOX9 (SRY-box 9) gene's transcriptional start site on chromosome 17 (chr17), which involved SOX9's minimal critical 46,XX sex reversal region. This duplication is sufficient to trigger male development in the absence of Y-chromosomal material and can lead to various degrees of masculinization in 46,XX individuals by overexpression of SOX9. Based on anamnestic information and pedigree analysis, another possible carrier of this copy number variation (CNV) could have been the father's sister. DISCUSSION:By comparing the duplications of our two sibling patients and previously reported similar cases, we suggest that the small differences between their breakpoints could alternatively modify the inner structure and functioning of SOX9'stopologically associated domain (TAD) due to the differing fine TAD arrangements. Our data support the phenotypic modularity impact - incomplete penetrance and variable expressivity - of very similar but non-identical CNVs, which are possibly inherited across three generations.
journal_name
Horm Res Paediatrjournal_title
Hormone research in paediatricsauthors
Pinti E,Piko H,Lengyel A,Luczay A,Karcagi V,Fekete G,Haltrich Idoi
10.1159/000503299subject
Has Abstractpub_date
2019-01-01 00:00:00pages
335-339issue
5eissn
1663-2818issn
1663-2826pii
000503299journal_volume
92pub_type
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
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doi:10.1159/000314895
更新日期:2010-01-01 00:00:00
abstract:BACKGROUND:GATA6 mutations are the most frequent cause of pancreatic agenesis and diabetes in human sporadic cases. In families, dominantly inherited mutations show a variable phenotype also in terms of endocrine and exocrine pancreatic disease. We report two novel GATA6 mutations in an independent cohort of 8 children...
journal_title:Hormone research in paediatrics
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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
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更新日期:2016-01-01 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
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journal_title:Hormone research in paediatrics
pub_type: 杂志文章,评审
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更新日期:2011-01-01 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
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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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更新日期:2017-01-01 00:00:00
abstract:BACKGROUND:ACP5 deficiency is known to cause spondyloenchondrodysplasia (SPENCD), which is characterized by various autoimmune and neurological symptoms in addition to short stature. METHODS:Two siblings from a consanguineous Turkish family, a girl aged 13 years (P1) and a boy aged 8 years (P2), presented to their end...
journal_title:Hormone research in paediatrics
pub_type: 杂志文章
doi:10.1159/000443684
更新日期:2016-01-01 00:00:00
abstract:BACKGROUND:A UK study showed final height in Turner syndrome (TS) girls receiving growth hormone is affected by age at pubertal induction and oxandrolone (Ox). Using data from that study, we analysed the effect of timing of oral ethinylestradiol (EE2) and Ox on height velocity (HV), bone maturation and pubertal progres...
journal_title:Hormone research in paediatrics
pub_type: 杂志文章,多中心研究,随机对照试验
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journal_title:Hormone research in paediatrics
pub_type: 杂志文章
doi:10.1159/000437142
更新日期:2015-01-01 00:00:00
abstract:BACKGROUND:Over the past 15 years, the incidence of type 1 diabetes mellitus (T1DM) in Central and Eastern Europe has grown rapidly from an initially low rate. This growth cannot be attributed to genetic factors: it appears that changing environmental exposures are responsible, though no single environmental factor can...
journal_title:Hormone research in paediatrics
pub_type: 杂志文章
doi:10.1159/000329168
更新日期:2011-01-01 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:There are few studies investigating the factors which may affect different biochemical presentations of Hashimoto's thyroiditis (HT) and these are frequently based on limited pediatric populations. AIMS:(1) To assess the frequency of thyroid function patterns at HT diagnosis in 608 children and adolescents,...
journal_title:Hormone research in paediatrics
pub_type: 杂志文章,多中心研究
doi:10.1159/000343815
更新日期:2012-01-01 00:00:00
abstract:BACKGROUND/AIMS:Over the years a rise in the incidence of congenital hypothyroidism (CH) has been described worldwide. The aim of our study was to investigate trends in the incidence of CH in Italy over the period 1987-2008, and to investigate which factors may have influenced the CH incidence in our country. METHODS:...
journal_title:Hormone research in paediatrics
pub_type: 杂志文章
doi:10.1159/000369394
更新日期:2015-01-01 00:00:00
abstract:BACKGROUND:Testicular microlithiasis (TM) is characterized by calcium deposits within the seminiferous tubules and is associated with benign and malign conditions. AIM:To determine TM prevalence in patients with congenital adrenal hyperplasia (CAH) and its association with testicular adrenal rest tumors (TART). PATIE...
journal_title:Hormone research in paediatrics
pub_type: 杂志文章
doi:10.1159/000313587
更新日期:2010-01-01 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
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
doi:10.1159/000356920
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abstract:BACKGROUND/AIMS:Insulin-like growth factor (IGF)-I is critical for normal human growth. Extremely rare homozygous mutations of the IGF1 gene severely impair intrauterine growth, intellectual development and postnatal growth. CASE/METHOD: A young male presented with postnatal growth retardation (-4.0 height SDS). His se...
journal_title:Hormone research in paediatrics
pub_type: 杂志文章
doi:10.1159/000337249
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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
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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
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journal_title:Hormone research in paediatrics
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pub_type: 杂志文章
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更新日期:2010-01-01 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: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 ...
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::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
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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:BACKGROUND:Survivors of childhood with haematopoietic stem cell transplantation and total body irradiation (HSCT/TBI) have an increased cardiometabolic risk without overt obesity. AIM:To describe cardiometabolic risk in HSCT/TBI survivors and identify anthropometric measurements of adiposity representative of cardiome...
journal_title:Hormone research in paediatrics
pub_type: 临床试验,杂志文章
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abstract::The pathophysiology of type 1 diabetes mellitus (DM) involves the selective autoimmune destruction of the pancreatic beta-cells [Pihoker et al.: Diabetes 2005;54(suppl 2):S52-S61]. The onset of type 1 DM is characterised by hyperglycaemia. Islet cell antibody (ICA), anti-insulin, anti-glutamic acid decarboxylase and t...
journal_title:Hormone research in paediatrics
pub_type: 杂志文章
doi:10.1159/000337254
更新日期:2012-01-01 00:00:00
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journal_title:Hormone research in paediatrics
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