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https://www.readbyqxmd.com/read/28644547/a-genetic-epidemiology-study-of-congenital-adrenal-hyperplasia-in-italy
#1
Alessandro Gialluisi, Soara Menabò, Lilia Baldazzi, Letizia Casula, Antonella Meloni, Maria Carla Farci, Stefano Mariotti, Luisa Balestrino, Rita Ortolano, Stefania Murru, Carlo Carcassi, Sandro Loche, Antonio Balsamo, Giovanni Romeo
Congenital Adrenal Hyperplasia due to 21-hydroxylase deficiency (21OHD-CAH) is an autosomal recessive disorder affecting steroidogenesis, due to mutations in CYP21A2 (6p21.3). 21OHD-CAH neonatal screening is based on 17-hydroxyprogesterone (17OHP) serum levels, showing high type I error rate and low sensitivity to mild CAH forms. Here, we used an epidemiological approach, which estimates the allelic frequency (q) of an autosomal recessive disorder using the proportion of homozygous patients, the mutational spectrum and the inbreeding coefficient in a sample of affected individuals...
June 23, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28641572/a-child-with-hypertension-and-ambiguous-genitalia-an-uncommon-variant-of-congenital-adrenal-hyperplasia-a-case-report
#2
Vivek Pant, Suman Baral, Bishal Shrestha, Arjun Tumbapo
BACKGROUND: Deficiency in 11β-hydroxylase as a cause of congenital adrenal hyperplasia is uncommon. It should be considered in the differential diagnosis of hypertension with virilization in any prepubescent child. CASE PRESENTATION: A 12-year-old Asian boy from eastern Nepal presented with pain in his abdomen and hypertension. He was raised as a male but had absent testicles since birth and had precocious puberty. Plasma testosterone, follicle-stimulating hormone, and luteinizing hormone were below baseline level...
June 23, 2017: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/28640966/linking-the-degree-of-virilization-in-females-with-congenital-adrenal-hyperplasia-to-genotype
#3
Semyon Gurgov, Kerlly J Bernabé, John Stites, Christopher M Cunniff, Karen Lin-Su, Diane Felsen, Maria I New, Dix P Poppas
Mutations of CYP21A2 variably decrease 21-hydroxylase activity and result in a spectrum of disease expressions in patients with congenital adrenal hyperplasia (CAH). We examined the association between CYP21A2 mutations and virilization (Prader score) in females with CAH. The study population included 187 CAH females with fully characterized CYP21A2 mutations. One hundred fifty-eight patients were sorted into groups by expected enzyme activity (percent of normal activity) of the less severely affected allele: (A) null, 0%; (B) I2G, 1%; (C) I172N, 2%; and (D) V281L, >2%...
June 22, 2017: Annals of the New York Academy of Sciences
https://www.readbyqxmd.com/read/28639595/prenatal-diagnosis-of-steroid-21-hydroxylase-deficient-congenital-adrenal-hyperplasia-experience-from-a-tertiary-care-centre-in-india
#4
Sudhisha Dubey, Veronique Tardy, Madhumita Roy Chowdhury, Neerja Gupta, Vandana Jain, Deepika Deka, Pankaj Sharma, Yves Morel, Madhulika Kabra
BACKGROUND & OBJECTIVES: Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder with a wide range of clinical manifestations. The disease is attributed to mutations in CYP21A2 gene encoding 21-hydroxylase enzyme. In view of severe phenotype in salt-losing cases, issues related to genital ambiguity in girls and precocity in boys, most families opt for prenatal testing and termination of affected foetus. CAH can be diagnosed in utero through direct molecular analysis of CYP21A2 gene, using DNA extracted from foetal tissues or cells obtained from chorionic villus sampling or amniocentesis...
February 2017: Indian Journal of Medical Research
https://www.readbyqxmd.com/read/28638668/severe-short-stature-in-an-adolescent-male-with-prader-willi-syndrome-and-congenital-adrenal-hyperplasia-a-therapeutic-conundrum
#5
Meredith Wasserman, Erin M Mulvihill, Angela Ganan-Soto, Serife Uysal, Jose Bernardo Quintos
Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency results in excess androgen production which can lead to early epiphyseal fusion and short stature. Prader-Willi syndrome (PWS) is a genetic disorder resulting from a defect on chromosome 15 due to paternal deletion, maternal uniparental disomy, or imprinting defect. Ninety percent of patients with PWS have short stature. In this article we report a patient with simple-virilizing CAH and PWS who was overtreated with glucocorticoids for CAH and not supplemented with growth hormone for PWS, resulting in a significantly short adult height...
2017: Case Reports in Endocrinology
https://www.readbyqxmd.com/read/28637490/lipoid-congenital-adrenal-hyperplasia-by-steroidogenic-acute-regulatory-protein-star-gene-mutation-in-an-italian-infant-an-uncommon-cause-of-adrenal-insufficiency
#6
Carla Bizzarri, Elisa Pisaneschi, Mafalda Mucciolo, Stefania Pedicelli, Daniela Galeazzi, Antonio Novelli, Marco Cappa
BACKGROUND: Lipoid congenital adrenal hyperplasia (CAH) (OMIM n. 201710) is the most severe form of congenital adrenal hyperplasia. It is characterized by severe adrenal and gonadal steroidogenesis impairment due to a defect in the conversion of cholesterol to pregnenolone. Affected infants experience salt loss, but glucocorticoid and mineralocorticoid replacement therapy enables long-term survival. Classic lipoid congenital adrenal hyperplasia is relatively common in Japan and Korea but extremely rare in Caucasian populations...
June 20, 2017: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/28631535/high-resolution-magnetic-resonance-imaging-for-exposing-facial-nerve-zonal-vulnerability-to-microbleeds-a-rare-cause-of-facial-palsy
#7
Charlie Chia-Tsong Hsu, Dalveer Singh, Trevor William Watkins, Gigi Nga Chi Kwan, Sachintha Hapugoda
Background We report a case of hypertensive microbleeds strategically located at the attached segment (AS) and root entry zone (REZ) at the left facial nerve causing facial paralysis. Case Report A 60-year-old woman presented with sudden onset left facial paralysis. Medical history was significant for poorly controlled hypertension secondary to bilateral adrenal hyperplasia (primary hyperaldosteronism). The patient was initially treated for presumptive Bell's palsy. Subsequent magnetic resonance imaging of the brain and internal auditory canal showed two microbleeds at the left cerebellopontine angle...
January 1, 2017: Neuroradiology Journal
https://www.readbyqxmd.com/read/28618705/re-should-we-question-early-feminizing-genitoplasty-for-patients-with-congenital-adrenal-hyperplasia-and-xx-karyotype
#8
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
#9
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
#10
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/28604129/severe-hyperandrogenemia-in-postmenopausal-woman-as-a-presentation-of-ovarian-hyperthecosis-case-report-and-mini-review-of-the-literature
#11
Adam Czyzyk, Justyna Latacz, Dorota Filipowicz, Agnieszka Podfigurna, Rafal Moszynski, Piotr Jasinski, Stefan Sajdak, Michal Gaca, Andrea R Genazzani, Blazej Meczekalski
Ovarian hyperthecosis (OH) is characterized by the presence of abundant luteinized theca cells in ovaries that secret androgen. It typically presents as severe hyperandrogenism and/or virilization in postmenopausal woman. Here we describe a 66-year old woman with presentation of severe hirsutism, alopecia, clitoromegaly and laboratory finding of significantly elevated serum total testosterone concentration and hyperinsulinemia. Performed imaging studies revealed normal sized, homogeneous ovaries, signs of endometrial hypertrophy and normal adrenal glands...
June 11, 2017: Gynecological Endocrinology
https://www.readbyqxmd.com/read/28594910/testosterone-improves-the-differentiation-efficiency-of-insulin-producing-cells-from-human-induced-pluripotent-stem-cells
#12
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
#13
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
#14
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
#15
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/28550366/minimally-invasive-resection-of-adrenal-masses-in-infants-and-children-results-of-a-european-multi-center-survey
#16
Francesco Fascetti-Leon, Giovanni Scotton, Luca Pio, Raimundo Beltrà, Paolo Caione, Ciro Esposito, Girolamo Mattioli, Amulya K Saxena, Sabine Sarnaki, Piergiorgio Gamba
BACKGROUND: Minimal access adrenal surgery (MAAS) for adrenal pathologies is the standard for many pediatric surgical centers. However, the literature offers few reports and minimal evidence from small case series. The aim of this study was to evaluate the outcomes of pediatric MAAS through a multi-center data analysis. METHOD: Pediatric patients who underwent MAAS between January 2002 and December 2013 were retrospectively included. Data analysis was conducted using Spss software (Welch's t-test, X-square, Fisher tests, multiple regression model)...
May 26, 2017: Surgical Endoscopy
https://www.readbyqxmd.com/read/28549629/testicular-tumors-of-adrenogenital-syndrome-from-physiopathology-to-therapy
#17
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
#18
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
#19
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
#20
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)
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