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Find video protocols related to scientific articles indexed in Pubmed.
17?-hydroxylase deficiency diagnosed in early infancy caused by a novel mutation of the CYP17A1 gene.
Horm Res Paediatr
PUBLISHED: 04-04-2014
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Mutations of the CYP17A1 gene cause 17?-hydroxylase deficiency (17OHD) resulting in 46,XY disorder of sex development, hypertension, hypokalemia and absent pubertal development. It is a rare, autosomal recessive form of congenital adrenal hyperplasia (CAH).
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Relationships between 24-hour urinary free cortisol concentrations and metabolic syndrome in obese children.
J. Clin. Endocrinol. Metab.
PUBLISHED: 03-26-2014
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Clinical features of Metabolic Syndrome (MetS) and Cushing's Syndrome are similar, suggesting a pathogenetic role of hypothalamus-pituitary-adrenal axis in MetS.
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46,XY disorder of sex development in a sudanese patient caused by a novel mutation in the HSD17B3 gene.
Sex Dev
PUBLISHED: 02-05-2014
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In this study, we present a Sudanese 46,XY patient raised as a female and diagnosed at the age of 20 years with having 17?-hydroxysteroid dehydrogenase type 3 (17?-HSD3) deficiency. She presented with primary amenorrhea, undeveloped breasts and a male pattern of secondary sexual characteristics. Examination of her external genitalia showed type IV genital circumcision. Steroid measurements both in urine and serum pointed to 17?-HSD3 deficiency. A novel homozygous splice-site mutation [c.524 + 2T>A] was detected in intron 7 of the HSD17B3 gene. In this patient, steroid concentration clearly supported both the clinical diagnosis of 17?-HSD3 deficiency and the functional relevance of the mutation. Interestingly, despite of the type IV genital circumcision, the patient expressed her interest in reassigning her sex from female to male.
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Characterisation of three novel CYP11B1 mutations in classic and non-classic 11?-hydroxylase deficiency.
Eur. J. Endocrinol.
PUBLISHED: 01-01-2014
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Congenital adrenal hyperplasia (CAH) is one of the most common autosomal recessive inherited endocrine diseases. Steroid 11?-hydroxylase (P450c11) deficiency (11OHD) is the second most common form of CAH.
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Steroid hormone profiles in prepubertal obese children before and after weight loss.
J. Clin. Endocrinol. Metab.
PUBLISHED: 05-23-2013
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Little information is available on the steroid hormone profiles in obese children and their changes after weight loss.
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Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency: functional consequences of four CYP11B1 mutations.
Eur. J. Hum. Genet.
PUBLISHED: 03-08-2013
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Congenital adrenal hyperplasia (CAH) is one of the most common autosomal recessive inherited endocrine disease. Steroid 11?-hydroxylase deficiency (11?-OHD) is the second most common form of CAH. The aim of the study was to study the functional consequences of three novel and one previously described CYP11B1 gene mutations (p.(Arg143Trp), p.(Ala306Val), p.(Glu310Lys) and p.(Arg332Gln)) detected in patients suffering from classical and non-classical 11?-OHD. Functional analyses were performed by using a HEK293 cell in vitro expression system comparing wild type (WT) with mutant 11?-hydroxylase activity. Mutant proteins were examined in silico to study their effect on the three-dimensional structure of the protein. Two mutations (p.(Ala306Val) and p.(Glu310Lys)) detected in patients with classical 11?-OHD showed a nearly complete loss of 11?-hydroxylase activity. The mutations p.(Arg143Trp) and p.(Arg332Gln) detected in patients with non-classical 11?-OHD showed a partial functional impairment with approximately 8% and 6% of WT activity, respectively. Functional mutation analysis allows the classification of novel CYP11B1 mutations as causes of classical and non-classical 11?-OHD. The detection of patients with non-classical phenotypes underscores the importance to screen patients with a phenotype comparable to non-classical 21-hydroxylase deficiency for mutations in the CYP11B1 gene in case of a negative analysis of the CYP21A2 gene. As CYP11B1 mutations are most often individual for a family, the in vitro analysis of novel mutations is essential for clinical and genetic counselling.European Journal of Human Genetics advance online publication, 11 September 2013; doi:10.1038/ejhg.2013.197.
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The novel mutation p.Trp147Arg of the steroidogenic acute regulatory protein causes classic lipoid congenital adrenal hyperplasia with adrenal insufficiency and 46,XY disorder of sex development.
Horm Res Paediatr
PUBLISHED: 02-20-2013
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The steroidogenic acute regulatory protein (StAR) is essential for steroidogenesis by mediating cholesterol transfer into mitochondria. Inactivating StAR mutations cause lipoid congenital adrenal hyperplasia.
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Implementation of a liquid chromatography tandem mass spectrometry assay for eight adrenal C-21 steroids and pediatric reference data.
Horm Res Paediatr
PUBLISHED: 01-17-2013
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Sensitive and accurate determination of steroids is essential for diagnosing congenital and acquired adrenal diseases. Since plasma concentrations change during childhood, age-specific reference ranges are the prerequisite for clinical interpretation. The objectives of this study were to develop a sensitive and reliable method for simultaneous detection and quantification of progesterone, 17-hydroxyprogesterone, deoxycorticosterone (DOC), 11-deoxycortisol, 21-deoxycortisol, corticosterone, cortisol (F) and cortisone (E) by ultra-performance liquid chromatography tandem mass spectrometry (UPLC-MS/MS) and to establish age- and sex-specific reference ranges from birth to adulthood.
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Two novel CYP11B1 mutations in congenital adrenal hyperplasia due to steroid 11? hydroxylase deficiency in a Tunisian family.
Gen. Comp. Endocrinol.
PUBLISHED: 10-21-2011
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Steroid 11? hydroxylase deficiency (11?-OHD) (OMIM # 202010) is the second most common form of congenital adrenal hyperplasia (CAH), accounting for 5-8% of all cases. It is an autosomal recessive enzyme defect impairing the biosynthesis of cortisol. The CYP11B1 gene encoding this enzyme is located on chromosome 8q22, approximately 40kb from the highly homologous CYP11B2 gene encoding for the aldosterone synthase. Virilization and hypertension are the main clinical characteristics of this disease. In Tunisia, the incidence of 11?-OHD appears higher due to a high rate of consanguinity (17.5% of congenital adrenal hyperplasia). The identical presentation of genital ambiguity (females) and pseudo-precocious puberty (males) can lead to misdiagnosis with 21 hydroxylase deficiency. The clinical hallmark of 11? hydroxylase deficiency is variable, and biochemical identification of elevated precursor metabolites is not usually available. In order to clarify the underlying mechanism causing 11?-OHD, we performed the molecular genetic analysis of the CYP11B1 gene in a female patient diagnosed as classical 11?-OHD. The nucleotide sequence of the patients CYP11B1 revealed two novel mutations in exon 4: a missense mutation that converts codon AGT (serine) to ATT (isoleucine) (c.650G>T; p.S217I) combined with an insertion of a thymine at the c.652-653 position (c.652_653insT). This insertion leads to a reading frame shift, multiple incorrect codons, and a premature stop in codon 258, that drastically affects normal protein function leading to a severe phenotype with ambiguous genitalia of congenital adrenal hyperplasia due to 11? hydroxylase deficiency.
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CYP17A1 intron mutation causing cryptic splicing in 17?-hydroxylase deficiency.
PLoS ONE
PUBLISHED: 03-22-2011
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17?-Hydroxylase/17, 20-lyase deficiency (17OHD) is an autosomal recessive disease causing congenital adrenal hyperplasia and a rare cause of hypertension with hypokalemia. The CYP17A1 gene mutation leads to 17OHD and its clinical features. We described an 18 y/o female with clinical features of 17?-hydroxylase/17, 20-lyase deficiency and characterized the functional consequences of an intronic CYP17A1 mutation. The coding regions and flanking intronic bases of the CYP17A1 gene were amplified by PCR and sequenced. The patient is a compound heterozygote for the previously described p.R358X and IVS1 +2T>C mutations. A first intron splice donor site mutation was re-created in minigene and full-length expression vectors. Pre-mRNA splicing of the variant CYP17A1 intron was studied in transfected cells and in a transformed lymphoblastoid cell line. When the full-length CYP17A1 gene and minigene containing the intronic mutation was expressed in transfected cells, the majority (>90%) of mRNA transcripts were incorrectly spliced. Only the p.R358X transcript was detected in the EBV-transformed lymphoblastoid cell line. The IVS1 +2T>C mutation abolished most 17?-hydroxylase/17, 20-lyase enzyme activity by aberrant mRNA splicing to an intronic pseudo-exon, causing a frame shift and early termination.
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Congenital lipoid adrenal hyperplasia: functional characterization of three novel mutations in the STAR gene.
J. Clin. Endocrinol. Metab.
PUBLISHED: 01-15-2010
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Context: The steroidogenic acute regulatory protein (StAR) has been shown to be essential for steroidogenesis by mediating cholesterol transfer into mitochondria. Inactivating StAR mutations cause the typical clinical picture of congenital lipoid adrenal hyperplasia. Objective: The objective of the investigation was to study the functional and structural consequences of three novel StAR mutations (p.N148K in an Italian patient; p.P129fs and p.Q128R in a Turkish patient). Methods and Results: Transient in vitro expression of the mutant proteins together with P450 side-chain cleavage enzyme, adrenodoxin, and adrenodoxin reductase yielded severely diminished cholesterol conversion of the p.N148K mutant, the combined p.P129fs and p.Q128R mutant, and the p.P129fs mutant by itself. The p.Q128R mutant led to a higher cholesterol conversion than the wild-type StAR protein. As derived from three-dimensional protein modeling, the residue N148 is lining the ligand cavity of StAR. A positively charged lysine residue at position 148 disturbs the hydrophobic cluster formed by the alpha4-helix and the sterol binding pocket. The frame shift mutation p.P129fs truncates the StAR protein. Residue p.Q128 is situated at the surface of the molecule and is not part of any functionally characterized region of the protein. Conclusion: The mutations p.N148K and p.P129fs cause adrenal insufficiency in both cases and lead to a disorder of sex development with complete sex reversal in the 46, XY case. The mutation p.Q128R, which is not relevant for the patients phenotype, is the first reported variant showing a gain of function. We speculate that the substitution of hydrophilic glutamine with basic arginine at the surface of the molecule may accelerate cholesterol transfer.
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Stress-coping and cortisol analysis in patients with non-syndromic cleft lip and palate: an explorative study.
PLoS ONE
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Non-syndromic clefts of the orofacial region occur in approximately 1 per 500 to 2,500 live births, depending on geographical area and ethnicity. It can be supposed that the disruption of the normal facial structure and the long-standing pressure of treatment from birth to adulthood bring about a range of life stressors which may lead to a long-lasting impact on affected subjects throughout their lives. Therefore, the present study aimed to assess different aspects of psychosocial stress in affected individuals.
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Age and skin site related differences in steroid metabolism in male skin point to a key role of sebocytes in cutaneous hormone metabolism.
Dermatoendocrinol
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Hormone concentrations decline with aging. Up to now it was not clear, whether the decrease of hormone concentrations in blood samples are also present in cutaneous suction blister fluids, and whether skin from different anatomical sites shows different hormone concentrations.Analysis of suction blister fluids and paired blood samples from young (mean 27.8 y) and old (mean 62.6 y) male subjects by UPLC-MS/MS showed that DHEA concentration in blood samples was age-dependently significantly reduced, but increased in suction blister fluids, while androstenedione behaved in an opposite manner to DHEA. Testosterone decreased age-dependently in blood samples and in suction blister fluids. Regarding skin sites, DHEA was lower in samples from upper back compared with samples from the forearm. In contrast, the concentrations of androstenedione and testosterone were higher in samples from upper back.In vitro analyses showed that SZ95 sebocytes, but neither primary fibroblasts nor keratinocytes, were able to use DHEA as precursor for testosterone biosynthesis, which was confirmed by expression analysis of 3?-hydroxysteroiddehydrogenase in skin biopsies.In conclusion, we show an inverse pattern of DHEA and androstenedione concentrations in blood vs. suction blister fluids, highlighting age-dependent changes of dermal testosterone biosynthesis, and a stronger metabolism in young skin. Furthermore, sebocytes play a central role in cutaneous androgen metabolism.
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JoVE Visualize is a tool created to match the last 5 years of PubMed publications to methods in JoVE's video library.

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In developing our video relationships, we compare around 5 million PubMed articles to our library of over 4,500 methods videos. In some cases the language used in the PubMed abstracts makes matching that content to a JoVE video difficult. In other cases, there happens not to be any content in our video library that is relevant to the topic of a given abstract. In these cases, our algorithms are trying their best to display videos with relevant content, which can sometimes result in matched videos with only a slight relation.