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Congenital adrenal hyperplasia

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https://www.readbyqxmd.com/read/28618705/re-should-we-question-early-feminizing-genitoplasty-for-patients-with-congenital-adrenal-hyperplasia-and-xx-karyotype
#1
Douglas A Canning
No abstract text is available yet for this article.
July 2017: Journal of Urology
https://www.readbyqxmd.com/read/28613048/is-the-second-to-fourth-digit-ratio-2d-4d-a-biomarker-of-sex-steroids-activity
#2
Vincenzo de Sanctis, Ashraf T Soliman, Heba Elsedfy, Nada Soliman, Rania Elalaily, Salvatore Di Maio
The second-to-fourth digit ratio (2D:4D) has been used as an indirect method to investigate the putative effects of prenatal exposure to androgens, and has been reported to be smaller in males than in females. This gender difference in digit length ratios has been linked with the in utero balance of androgens to oestrogen. This sexual dimorphism in 2D:4D ratios is apparent by 2 years of age and seems to be established early in life, possibly by the 14th week of gestation. Digits in females attain their maximum length at about 2...
June 2017: Pediatric Endocrinology Reviews: PER
https://www.readbyqxmd.com/read/28609197/the-glu331del-mutation-in-the-cyp17a1-gene-causes-atypical-congenital-adrenal-hyperplasia-in-a-46-xx-female
#3
Giulia Lanzolla, Giuseppe Vancieri, Silvia Lanciotti, Federica Sangiuolo, Elisa Menegatti, Luca Federici, Costanzo Moretti, Francesco Brancati
17α-Hydroxylase deficiency is an uncommon type of congenital adrenal hyperplasia (CAH) caused by mutations in the CYP17A1 gene encoding both 17α-hydroxylase and 17,20-lyase, essential for sex steroids production. Main clinical features include lack of pubertal development, hypertension, and hypokalemia. We report the first case of a 46,XX female homozygote for the p.Glu331del mutation in the CYP17A1 gene showing an atypical clinical presentation. She was evaluated the first time for primary amenorrhea and delayed puberty in the presence of low levels of androgens, 17β-estradiol, serum cortisol, and high levels of progesterone and gonadotropins...
June 13, 2017: Gynecological Endocrinology
https://www.readbyqxmd.com/read/28594910/testosterone-improves-the-differentiation-efficiency-of-insulin-producing-cells-from-human-induced-pluripotent-stem-cells
#4
Haikun Liu, Dongsheng Guo, Aynisahan Ruzi, Yan Chen, Tingcai Pan, Fan Yang, Jialiang Li, Kecheng Xu, Tiancheng Zhou, Dajiang Qin, Yin-Xiong Li
Human induced pluripotent stem cells (hiPSCs) may provide potential resource for regenerative medicine research, including generation of insulin-producing cells for diabetes research and insulin production. Testosterone (T) is an androgen hormone which promotes protein synthesis and improves the management of type 2 diabetes in clinical studies. Concurrently, co-existed hyperandrogenism and hyperinsulinism is frequently observed in polycystic ovary syndrome, congenital adrenal hyperplasia and some of Wermer's syndrome...
2017: PloS One
https://www.readbyqxmd.com/read/28582566/non-classic-congenital-adrenal-hyperplasia-due-to-21-hydroxylase-deficiency-revisited-an-update-with-a-special-focus-on-adolescent-and-adult-women
#5
Enrico Carmina, Didier Dewailly, Héctor F Escobar-Morreale, Fahrettin Kelestimur, Carlos Moran, Sharon Oberfield, Selma F Witchel, Ricardo Azziz
BACKGROUND: Non-classic congenital hyperplasia (NCAH) due to 21-hydroxylase deficiency is a common autosomal recessive disorder characterized by androgen excess. OBJECTIVE AND RATIONALE: We conducted a systematic review and critical assessment of the available evidence pertaining to the epidemiology, pathophysiology, diagnosis and management of NCAH. A meta-analysis of epidemiological data was also performed. SEARCH METHODS: Peer-reviewed studies evaluating NCAH published up to October 2016 were reviewed...
June 5, 2017: Human Reproduction Update
https://www.readbyqxmd.com/read/28576284/congenital-adrenal-hyperplasia
#6
REVIEW
Diala El-Maouche, Wiebke Arlt, Deborah P Merke
Congenital adrenal hyperplasia is a group of autosomal recessive disorders encompassing enzyme deficiencies in the adrenal steroidogenesis pathway that lead to impaired cortisol biosynthesis. Depending on the type and severity of steroid block, patients can have various alterations in glucocorticoid, mineralocorticoid, and sex steroid production that require hormone replacement therapy. Presentations vary from neonatal salt wasting and atypical genitalia, to adult presentation of hirsutism and irregular menses...
May 30, 2017: Lancet
https://www.readbyqxmd.com/read/28557682/an-infant-presenting-with-failure-to-thrive-and-hyperkalaemia-owing-to-transient-pseudohypoaldosteronism-case-report
#7
Marieke De Clerck, Johan Vande Walle, Evelyn Dhont, Joke Dehoorne, Werner Keenswijk
A 3-month-old boy presented with failure to thrive and a history of a prenatally detected unilateral hydroureteronephrosis which was confirmed after birth. His growth and developmental milestones had been normal during the first 2 months but in the third month his appetite was poor with reduced intake but no vomiting. At presentation, his temperature was normal, there was mild dehydration and there was weight loss (his weight had decreased by 270 g in the past month). Haemoglobin was 11.9 g/dL, total white cell count 20...
May 30, 2017: Paediatrics and International Child Health
https://www.readbyqxmd.com/read/28549629/testicular-tumors-of-adrenogenital-syndrome-from-physiopathology-to-therapy
#8
Sahbi Naouar, Salem Braiek, Rafik El Kamel
Testicular tumor of adrenogenital syndrome is a rare and benign anomaly usually presenting as bilateral testicular masses. It is the most important cause of infertility in adult male congenital adrenal hyperplasia. Distinction between testicular tumors of adrenogenital syndrome and Leydig cell tumors can be problematic; it is based on clinical, histopathologic, immunohistochemical and endocrine features. Biopsy is advised in cases of longstanding tumors in infertile patients and when surgery is indicated. Fertility preservation is a key management goal in testicular tumor of adrenogenital syndrome...
May 23, 2017: La Presse Médicale
https://www.readbyqxmd.com/read/28541281/revisiting-the-prevalence-of-nonclassic-congenital-adrenal-hyperplasia-in-us-ashkenazi-jews-and-caucasians
#9
Fady Hannah-Shmouni, Rachel Morissette, Ninet Sinaii, Meredith Elman, Toni R Prezant, Wuyan Chen, Ann Pulver, Deborah P Merke
PurposeNonclassic 21-hydroxylase deficiency, a mild form of congenital adrenal hyperplasia (CAH), is estimated to be the most common autosomal recessive condition, with an especially high prevalence in Ashkenazi Jews (3.7% affected, 30.9% carriers), based on a 1985 HLA-B linkage study of affected families. Affected individuals, especially women, may suffer from hyperandrogenism and infertility. State-of-the-art genetic studies have not been done to confirm these remarkable rates.MethodsCYP21A2 genotyping was performed in 200 unrelated healthy Ashkenazi Jewish subjects and 200 random US Caucasians who did not self-identify as a specific ethnicity using multiplex minisequencing, real-time polymerase chain reaction and junction site analysis...
May 25, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28539365/functional-analysis-of-human-cytochrome-p450-21a2-variants-involved-in-congenital-adrenal-hyperplasia
#10
Chunxue Wang, Pradeep S Pallan, Wei Zhang, Li Lei, Francis K Yoshimoto, Michael R Waterman, Martin Egli, F Peter Guengerich
Cytochrome P450 (P450, CYP) 21A2 is the major steroid 21-hydroxylase, converting progesterone to 11-deoxycorticosterone and 17α-hydroxy(OH)progesterone to 11-deoxycortisol. More than 100 CYP21A2 variants give rise to congenital adrenal hyperplasia (CAH). We previously reported a structure of wild-type (WT) human P450 21A2 with bound progesterone and now present a structure bound to the other substrate (17α-OH progesterone). We found that the 17α-OH progesterone- and progesterone-bound complex structures are highly similar, with only some minor differences in surface loop regions...
May 24, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28538409/a-case-report-of-pedigree-of-a-homozygous-mutation-of-the-steroidogenic-acute-regulatory-protein-causing-lipoid-congenital-adrenal-hyperplasia
#11
Rong Fu, Lin Lu, Jun Jiang, Min Nie, Xiaojing Wang, Zhaolin Lu
RATIONALE: Lipoid congenital adrenal hyperplasia (LCAH) is extremely rare, but is the most fatal form of congenital adrenal hyperplasia resulting from mutations in the steroidogenic acute regulatory protein (STAR) gene. LCAH arises from severe defects in the conversion of cholesterol to pregnenolone, the precursor of all steroids. PATIENT CONCERNS: A case was reported that an 11-month-old Chinese girl who presented with a sex development disorder and hyponatremia...
May 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28535944/restoring-normal-anatomy-in-female-patients-with-atypical-genitalia
#12
Laurence S Baskin
Female patients with congenital adrenal hyperplasia (CAH) have varying degrees of atypical genitalia secondary to prenatal and postnatal androgen exposure. Surgical treatment is focused on restoring normal genitalia anatomy by bringing the vagina to the normal position on the perineum, separating the distal vagina from the urethra, forming a normal introitus and preserving sexual function of the clitoris by accepting moderate degrees of hypertrophy as normal and strategically reducing clitoral size only in the most severely virilized patients...
May 20, 2017: Seminars in Perinatology
https://www.readbyqxmd.com/read/28523454/stigma-associated-with-classical-congenital-adrenal-hyperplasia-in-women-s-sexual-lives
#13
Heino F L Meyer-Bahlburg, Jananne Khuri, Jazmin Reyes-Portillo, Anke A Ehrhardt, Maria I New
The risk of intersex-related stigma often serves as social indication for "corrective" genital surgery, but has not been comprehensively documented. In preparation for the development of an intersex-specific stigma assessment tool, this qualitative project aimed to explore stigma in girls and women with classical congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency. As part of a comprehensive follow-up project, 62 adult women with classical CAH (age range 18-51 years) took part in an open-ended retrospective interview focusing on the impact of CAH and its treatment on various aspects of girls' and women's lives...
May 18, 2017: Archives of Sexual Behavior
https://www.readbyqxmd.com/read/28521877/cyp21a2-intronic-variants-causing-21-hydroxylase-deficiency
#14
REVIEW
Paola Concolino, Roberta Rizza, Alessandra Costella, Cinzia Carrozza, Cecilia Zuppi, Ettore Capoluongo
Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder mainly caused by defects in the steroid 21-hydroxylase gene (CYP21A2). Most of CYP21A2 mutations result from intergenic recombinations between CYP21A2 and closely linked CYP21A1P pseudogene. Rare mutations not generated by gene conversion account for 5-10% of 21-hydroxylase deficiency alleles. Intronic variants represent only a little part of these but their effect on the protein is generally deleterious. The aim of this paper is to provide a comprehensive literary review regarding all intronic CYP21A2 pathological variants reported to date...
June 2017: Metabolism: Clinical and Experimental
https://www.readbyqxmd.com/read/28514642/congenital-adrenal-hyperplasia-due-to-11-hydroxylase-deficiency-compound-heterozygous-mutations-of-a-prevalent-and-two-novel-cyp11b1-mutations
#15
Chongjuan Gu, Tao Tan, Junbao Yang, Yilu Lu, Yongxin Ma
11β-hydroxylase deficiency (11β-OHD) occurs in about 5-8% of congenital adrenal hyperplasia (CAH). In this study, we identified three CYP11B1 (encoding Cytochrome P450 11B1) heterozygous mutations: c.1358G>C (p.R453Q), c.1229T>G (p.L410R) and c.1231G>T (p.G411C) in a Chinese CAH patient due to classic 11β-OHD. His parents were healthy and respectively carried the prevalent mutation c.1358G>C (p.R453Q), and the two novel mutations c.1229T>G (p.L410R) and c.1231G>T (p.G411C). In vitro expression studies, immunofluorescence demonstrated that wild type and mutant (L410R and G411C) proteins of CYP11B1 were correctly expressed on the mitochondria, and enzyme activity assay revealed the mutant reduced the 11-hydroxylase activity to 10% (P<0...
May 14, 2017: Gene
https://www.readbyqxmd.com/read/28513122/the-many-faces-of-non-classic-congenital-adrenal-hyperplasia
#16
REVIEW
Irit Ayalon-Dangur, Anat Segev-Becker, Itay Ayalon, Ori Eyal, Shoshana Israel, Naomi Weintrob
No abstract text is available yet for this article.
May 2017: Israel Medical Association Journal: IMAJ
https://www.readbyqxmd.com/read/28512133/quality-of-compounded-hydrocortisone-capsules-used-in-the-treatment-of-children
#17
Uta Neumann, Daniela Burau, Sarah Spielmann, Martin Whitaker, Richard J Ross, Charlotte Kloft, Oliver Blankenstein
Objectives: Due to the lack of paediatric licensed formulations, children are often treated with individualized pharmacy-compounded adult medication. An international web-based survey about the types of medication in children with adrenal insufficiency (AI) revealed that the majority of paediatric physicians are using pharmacy-compounded medication to treat children with AI. Observations of loss of therapy control in children with congenital adrenal hyperplasia with compounded hydrocortisone capsules and regained control after prescribing a new hydrocortisone batch led to this "real world" evaluation of pharmacy-compounded paediatric hydrocortisone capsules...
May 16, 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28504212/psychological-adjustment-in-parents-of-children-born-with-atypical-genitalia-one-year-after-their-child-undergoes-genitoplasty
#18
Rebecca Eh Ellens, Dana M Bakula, Alexandria J Mullins, Kristy J Scott Reyes, Paul Austin, Laurence Baskin, Kerlly Bernabé, Earl Y Cheng, Allyson Fried, Dominic Frimberger, Denise Galan, Lynette Gonzalez, Saul Greenfield, Thomas Kolon, Bradley Kropp, Yegappan Lakshmanan, Sabrina Meyer, Theresa Meyer, Larry L Mullins, Natalie J Nokoff, Blake Palmer, Dix Poppas, Alethea Paradis, Elizabeth Yerkes, Amy B Wisniewski, Cortney Wolfe-Christensen
PURPOSE: The current study examined the psychological adjustment of parents of children born with moderate to severe genital atypia 12 months after their child underwent genitoplasty. MATERIALS AND METHODS: Parents were recruited longitudinally from a multi-center collaboration of 10 pediatric hospitals with specialty care for children with a Disorder/Difference of Sex Development and/or Congenital Adrenal Hyperplasia. Parents completed measures of depressive and anxious symptoms, illness uncertainty, quality of life, post-traumatic stress, and decisional regret...
May 11, 2017: Journal of Urology
https://www.readbyqxmd.com/read/28500827/psychological-vulnerability-to-stress-in-carriers-of-congenital-adrenal-hyperplasia-due-to-21-hydroxylase-deficiency
#19
Eleni-Magdalini Kyritsi, Georgia Koltsida, Ioanna Farakla, Aikaterini Papanikolaou, Elena Critselis, Emilia Mantzou, Emmanouil Zoumakis, Gerasimos Kolaitis, George P Chrousos, Evangelia Charmandari
OBJECTIVE: Carriers of congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD) demonstrate increased secretion of cortisol precursors following ACTH stimulation, suggestive of impaired cortisol production and compensatory increases in hypothalamic corticotropin-releasing hormone (CRH) secretion. Both cortisol and CRH have behavioral effects, and hypothalamic CRH hypersecretion has been associated with chronic states of anxiety and depression. We performed an endocrinologic and psychological evaluation in carriers of 21-OHD and matched control subjects...
January 2017: Hormones: International Journal of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28489558/evaluation-of-factors-associated-with-elevated-newborn-17-hydroxyprogesterone-levels
#20
V Shobi Anandi, Bhattacharyya Shaila
BACKGROUND: Measurement of 17-hydroxyprogesterone (17-OHP) in dried blood spots has been widely used as a newborn screening tool for congenital adrenal hyperplasia (CAH). Various maternal and neonatal factors can result in falsely high values of 17-OHP. There is a paucity of Indian studies in this regard because routine evaluation of newborn 17-OHP levels as a screening program is not widely practiced in India. Hence, this study was undertaken to evaluate the influence of various maternal and neonatal factors on newborn 17-OHP levels...
May 24, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
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