Congenital Adrenal Hyperplasia (CAH) from Steroid 11b-hydroxylase Absence

Paper Type:  Essay
Pages:  4
Wordcount:  1079 Words
Date:  2021-03-19

The article analyzes Congenital Adrenal Hyperplasia (CAH) from steroid 11b-hydroxylase absence which is a system of Congenital Adrenal Hyperplasia that has little renin high blood pressure. It describes the hormonal, molecular and clinical features of children with 11b-Hydroxylase Deficiency and has analyzed the control of a merging alteration. 11b-OHD brought by mutations in the CYP11B1 genetic factor describes over 5% of the CAH in non-consanguineous inhabitants. It however elucidates for about 15% of Jewish Middle Eastern and Muslim populations.

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Accumulated steroid precursors are avoided into the androgen synthesis pathway causing androgen admission when there is a deficiency of P450c11b action that causes hypertension and impaired cortisol synthesis. Standard 11b-OHD causes masculinization of the exterior genitalia in the stricken women, accelerated growth, bone maturation and precocious puberty in male and female. Patients can acquire 11b-OHD which can more concentrations of 17-hydroxyprogesterone (17OHP) and it accumulates in two steps for 17OHP to detect 11b-OHD using newborn screening program. CYP11B1 is found at the extended arm of 8q21 DNA that encodes 503 amino acids and had 9 exons. Most of the CYP11B1 alterations are linked with standard 11b-OHD and scarce cause non-standard 11b-OHD. The report describes two siblings who had and clinical and endocrinal composition of 11b-OHD and found multiple different alterations in the CYP11B1 genetic factor.

The sick individuals came from a non-blood related family and the first individual was 3years old. She was 46,XX and had unclear genitals. She had been assessed for abdominal genital growth and experienced first genital operation in Turkey. The examination showed that the phallus was 2cm wide and 5cm long and palmar and areola crumples were pigmented together. Her dehydroepiandrosterone sulfate (DHEAS) was 165.2 ug/dl while androgen levels were 132 ng/dl. Treatment with hydrocortisone helped her improve BP to the normal range while PRA became measurable and testosterone was suppressed. The other patient had acne and masculinization at the age of 2 years and a progressive development of the outer genitals together with a deep voice. An ACTH assessment revealed raised baseline ACTH, temperately raised 17OHP later in 60 minutes and non-response to ACTH. He was treated with hydrocortisone and his BP was well controlled while PRA increased to 738 ng/dl/h.

There was extraction of genomic chromosome from outlying blood leucocytes using QIAamp DNA blood mini kit of the parents and individuals. PCR outputs were handled with ExoSAP-IT and referred at Macrogen Inc. for straight succession. There was a mini gene in vitro test done of the CYP11B1 merging alteration implemented and a part of the mutant genomic DNA and will-type and amplified by PCR using the oligonucleotides. PCR responses were performed in a 20ul volume comprising 50ng gDNA, 10uM dNTPs and 5U/ul. The PCR component was sliced using T4 DNA ligase with Xbal enzymes and BamHI-HF and duplicated into the corresponding locations of pcDNA 3.1/myc-His B appearance trajectory. There was a culture of the COS-7 cells in penicillin/streptomycin and high aldohexose at 37oC. Cells were grown using Effectene Transfection Reagent on 6-well plates and transfected with the mutant minigene constructs and wild-type.

QIAamp RNA Blood Mini Kit was used in the extraction of total cellular RNA and treated with DNasel and then employed as prototype using Improm-II Reverse Transcription System for cDNA fusion. The PCR outputs were examined by staining with ethidium bromide and electrophoresis on a 1% agarose gel. The PDR products after sub cloning into pGEM-T were confirmed by Sanger sequencing.

The DNA placement of the whole coding areas and their nearby noncoding DNA of the CYP11B1 gene indicating the family members were multiple genes for a nonsense mutation c.421C. The mutations identified were conveyed before but their pathogenic contrivances have not been explained clearly. The fathers mutation was situated at the merging contributor location of intron 7 and could generate an anomalous merging of the mRNA. The person c.1200 + 1G>A CYP11B1 mini gene became administered to 2 incorrect merged outputs that were less than the WT mini gene.

One mutant avoided the whole exon 7 while comprising all the arrangements of exons 8 and 6 as the additional one missed exons 7 and 8 even though there was recollection of full arrangements of exons 9 and 6. CYP11B1 mutations were found in the two siblings and they were diagnosed with classic 11b-OHD. Mineralocorticoid signs link off-color with the mark of masculinization in the stricken girls and blood pressure is regular during initial stages of a child. Studies in in vitro undertakings below 5% were taken as consistent and severe with nonsense p.R141X and standard 11b-OHD is projected to focus on a untimely break in exon 3 and produces a shortened catalyst without the vital remains for heme bonding area constant that has the childrens medical phenotypes. IVS7+1G>A mutation was found to cause an intron retention leading to exon skipping.

The learning outcome of the article includes how a mutation analysis is done using PCR and Sanger encoding of the whole coding regions. One also learns the effect of mutations c.421C>T and c.1200 + 1G>A in parents to their children. Finally one learns how CYP11B1 leads to exon skipping.

References

Charnwichai, Pattaranatcha, Patra Yeetong, Kanya Suphapeetiporn, Vichit Supornsilchai, Taninee Sahakitrungruang, and Vorasuk Shotelersuk. "Splicing analysis of CYP11B1 mutation in a family affected with 11b-hydroxylase deficiency: case report." BMC Endocrine Disorders 16, no. 1 (2016): 1.

Dumic, Katja, Tony Yuen, Zorana Grubic, Vesna Kusec, Ingeborg Barisic, and Maria I. New. "Two novel CYP11B1 gene mutations in patients from two Croatian families with 11b-hydroxylase deficiency." International journal of endocrinology 2014 (2014).

Kandemir, Nurgun, Didem Yucel Yilmaz, E. Nazli Gonc, Alev Ozon, Ayfer Alikasifoglu, Ali Dursun, and R. Koksal Ozgul. "Novel and prevalent CYP11B1 gene mutations in Turkish patients with 11-b hydroxylase deficiency." The Journal of steroid biochemistry and molecular biology(2016).

Menabo, Soara, Seher Polat, Lilia Baldazzi, Alexandra E. Kulle, Paul-Martin Holterhus, Joachim Grotzinger, Flaminia Fanelli, Antonio Balsamo, and Felix G. Riepe. "Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency: functional consequences of four CYP11B1 mutations." European Journal of Human Genetics 22, no. 5 (2014): 610-616.

White, Perrin C. "Steroid 11b-hydroxylase deficiency and related disorders." In Genetic Steroid Disorders, edited by M. I. New, O. Lekarev, A. Parsa, T. Yuen, B. W. O'Malley, and G. D. Hammer, pp. 71-85. Elsevier London, 2014.

Zhang, Manna, Yanling Liu, Shouyue Sun, Huijie Zhang, Weiqing Wang, Guang Ning, and Xiaoying Li. "A prevalent and three novel mutations in CYP11B1 gene identified in Chinese patients with 11-beta hydroxylase deficiency." The Journal of steroid biochemistry and molecular biology 133 (2013): 25-29.

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Congenital Adrenal Hyperplasia (CAH) from Steroid 11b-hydroxylase Absence. (2021, Mar 19). Retrieved from https://proessays.net/essays/congenital-adrenal-hyperplasia-cah-from-steroid-11b-hydroxylase-absence

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