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"Congenital Adrenal Hyperplasia"

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https://www.readbyqxmd.com/read/29626607/prevalence-clinical-characteristics-and-long-term-outcomes-of-classical-11-%C3%AE-hydroxylase-deficiency-11bohd-in-turkish-population-and-novel-mutations-in-cyp11b1-gene
#1
Firdevs Baş, Güven Toksoy, Berrin Ergun-Longmire, Zehra Oya Uyguner, Zehra Yavaş Abalı, Şükran Poyrazoğlu, Volkan Karaman, Şahin Avcı, Umut Altunoğlu, Ruveyde Bundak, Birsen Karaman, Seher Başaran, Feyza Darendeliler
Congenital adrenal hyperplasia (CAH) due to 11β-hydroxylase deficiency (11BOHD) is a rare autosomal recessive disorder and the second most common form of CAH. AIM: To investigate genotype-phenotype correlation and to evaluate clinical characteristics and long-term outcomes of patients with 11BOHD. METHODS: A total of 28 patients (n = 14, 46,XX; n = 14, 46,XY) with classical 11BOHD from 25 unrelated families were included in this study. Screening of CYP11B1 is performed by Sanger sequencing...
April 4, 2018: Journal of Steroid Biochemistry and Molecular Biology
https://www.readbyqxmd.com/read/29615074/a-klinefelter-boy-with-congenital-adrenal-hyperplasia-too-much-or-too-little-androgens
#2
Giada Zanella, Gianluca Tornese, Elisabetta Mascheroni, Elena Faleschini, Alessandro Ventura, Egidio Barbi
BACKGROUND: The simultaneous occurrence of Klinefelter Syndrome (KS) and Congenital Adrenal Hyperplasia (CAH) is an exceptional event: there are just three case reports (two children and a 51 years old man) describing males affected by both KS and 21OHD (21-hydroxylase deficiency) CAH, the first causing androgen deficiency, the latter leading to androgen excess. CASE REPORT: We report the 4th case of association of KS and CAH in a young man with CAH with good androgen control and with normal secondary sex characteristics, whose Klinefelter syndrome was diagnosed because of reduced testicular volume...
April 3, 2018: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/29608076/body-image-and-self-esteem-in-disorders-of-sex-development-a-european-multicenter-study
#3
Tim C van de Grift, Peggy T Cohen-Kettenis, Annelou L C de Vries, Baudewijntje P C Kreukels
OBJECTIVE: Disorders/differences of sex development (DSD) refer to congenital conditions with atypical sex development and are associated with psychosexual issues. The aim of this study was to assess body image and self-esteem across the DSD spectrum and to study the impact of diagnosis and mediating characteristics. METHOD: Data collection was part of dsd-LIFE, a cross-sectional study conducted by 14 European expert clinics on wellbeing and health care evaluation of adults diagnosed with DSD...
April 2018: Health Psychology: Official Journal of the Division of Health Psychology, American Psychological Association
https://www.readbyqxmd.com/read/29606626/gender-dysphoria-and-gender-change-in-disorders-of-sex-development-intersex-conditions-results-from-the-dsd-life-study
#4
Baudewijntje P C Kreukels, Birgit Köhler, Anna Nordenström, Robert Roehle, Ute Thyen, Claire Bouvattier, Annelou L C de Vries, Peggy T Cohen-Kettenis
BACKGROUND: Information on the psychosexual outcome of individuals with disorders of sex development (DSDs) and intersex conditions is of great importance for sex assignment at birth of newborns with DSD. AIM: To assess gender change and gender dysphoria in a large sample of individuals with different DSDs. METHODS: A cross-sectional study was conducted in 14 European centers with 1,040 participants (717 female-identifying and 311 male-identifying persons and 12 persons identifying with another gender) with different forms of DSD...
March 29, 2018: Journal of Sexual Medicine
https://www.readbyqxmd.com/read/29595516/a-rare-cause-of-congenital-adrenal-hyperplasia-clinical-and-genetic-findings-and-follow-up-characteristics-of-six-patients-with-17-hydroxylase-deficiency-and-two-novel-mutations
#5
Aslı Derya Kardelen, Güven Toksoy, Firdevs Baş, Zehra Yavaş Abalı, Genco Gençay, Şükran Poyrazoğlu, Rüveyde Bundak, Umut Altunoğlu, Şahin Avcı, Adam Najaflı, Oya Uyguner, Birsen Karaman, Seher Başaran, Feyza Darendeliler
BACKGROUND: 17-α-hydroxylase/17,20 lyase deficiency (17OHD) is a rare form of congenital adrenal hyperplasia (CAH), characterized by hypertension and varying degrees of ambiguous genitalia and delayed pu-berty. The disease is associated with bi-allelic mutations in the CYP17A1 gene located on chromosome 10q24.3. We aimed to present clinical and genetic findings and follow-up and treatment of 17-OHD patients. PATIENTS AND METHODS: We evaluated six patients with 17OHD from five families at presentation and at follow up...
March 29, 2018: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/29584889/longitudinal-assessment-of-illnesses-stress-dosing-and-illness-sequelae-in-patients-with-congenital-adrenal-hyperplasia
#6
Diala El-Maouche, Courtney J Hargreaves, Ninet Sinaii, Ashwini Mallappa, Padmasree Veeraraghavan, Deborah P Merke
Context: Congenital adrenal hyperplasia (CAH) patients are at risk for life-threatening adrenal crises. Management of illness episodes aims to prevent adrenal crises. Objective: We evaluated rates of illnesses and associated factors in a cohort of CAH patients followed prospectively and receiving repeated glucocorticoid stress dosing education. Methods: Longitudinal analysis of 156 CAH patients followed at the National Institutes of Health Clinical Center over 23 years was performed...
March 22, 2018: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29576868/a-rare-cause-of-primary-adrenal-insufficiency-due-to-a-homozygous-arg188cys-mutation-in-the-star-gene
#7
Lukas Burget, Laura Audí Parera, Monica Fernandez-Cancio, Rolf Gräni, Christoph Henzen, Christa E Flück
Steroidogenic acute regulatory protein ( STAR ) is a key protein for the intracellular transport of cholesterol to the mitochondrium in endocrine organs (e.g. adrenal gland, ovaries, testes) and essential for the synthesis of all steroid hormones. Several mutations have been described and the clinical phenotype varies strongly and may be grouped into classic lipoid congenital adrenal hyperplasia (LCAH), in which all steroidogenesis is disrupted, and non-classic LCAH, which resembles familial glucocorticoid deficiency (FGD), which affects predominantly adrenal functions...
2018: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/29570584/first-case-of-bacteremia-due-to-kytococcus-schroeteri-in-a-child-with-congenital-adrenal-hyperplasia
#8
Banu Bayraktar, Nazan Dalgic, Nurcan Duman, Ercüment Petmezci
Kytococcus schroeteri is a commensal organism of the human skin, may cause serious infections in immunocompromised patients. We report the first case of Kytococcus schroeteri bacteremia in a child with congenital adrenal hyperplasia (CAH), identified by matrix-assisted laser desorption ionization-time of flight mass spectrometry (MALDI-TOF MS)(Bruker Daltonics, Germany). İdentification was confirmed by 16S rRNA gene sequencing.
March 22, 2018: Pediatric Infectious Disease Journal
https://www.readbyqxmd.com/read/29564839/-transient-pseudohypoaldosteronism-an-important-differential-diagnosis-to-congenital-adrenal-hyperplasia
#9
Jakob Metz, Marie Sophie Kesper, Barbara Uetz, Stefan Burdach, Katharina Warncke
No abstract text is available yet for this article.
March 21, 2018: Klinische Pädiatrie
https://www.readbyqxmd.com/read/29562581/computed-tomography-findings-of-testicular-adrenal-rest-tumors-resulted-from-21-hydroxylase-deficiency
#10
Xiao Li, Zhuodong Xu, Ximing Wang
21-hydroxylase deficiency is a rare kind of autosomal recessive disorders, which can result in congenital adrenal hyperplasia and/or testicular adrenal rest tumors. 21-hydroxylase deficiency with TARTs is prone to be misdiagnosed as Leydig cell tumors. Although the sonographic characteristics of TARTs have been summarized in previous reports, its features in computed tomography images were rarely reported. In this study, we presented and summarized the clinical and imaging data of a special case suffering this disease, aiming to improve the imaging diagnosis performance...
March 15, 2018: Journal of X-ray Science and Technology
https://www.readbyqxmd.com/read/29554355/bilateral-adrenalectomy-in-congenital-adrenal-hyperplasia-a-systematic-review-and-meta-analysis
#11
Diana MacKay, Anna Nordenström, Henrik Falhammar
Context: Management of congenital adrenal hyperplasia (CAH) involves suppression of the hypothalamic-pituitary-adrenal (HPA) axis using supraphysiological doses of exogenous glucocorticoids. This can pose a challenge, with Cushing's syndrome being a frequent complication of adequate suppression. Bilateral adrenalectomy, with subsequent replacement of glucocorticoids and mineralocorticoids at physiological doses, has been proposed as an alternative therapeutic strategy. Objective: To review the outcomes following bilateral adrenalectomy for CAH...
March 15, 2018: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29553041/aromatase-deficiency-due-to-a-novel-mutation-in-cyp19a1-gene
#12
Edip Ünal, Ruken Yıldırım, Funda Feryal Taş, Vasfiye Demir, Hüseyin Onay, Yusuf Kenan Haspolat
BACKGROUND: Aromatase deficiency is a rare autosomal recessive genetic disorder with an unknown incidence. Aromatase converts androgens into estrogen in the gonadal and extra-gonadal tissues. Aromatase deficiency causes ambiguous genitalia in the female fetus and maternal virilization (hirsutism, acne, cliteromegaly, deep voice) during the pregnancy due to increased concentration of androgens. METHODS AND RESULTS: The-nineteen-month-old girl was assessed due to ambiguous genitalia There were findings of maternal virilization during pregnancy...
March 19, 2018: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/29549556/newborn-screening-for-congenital-hypothyroidism-and-congenital-adrenal-hyperplasia
#13
(no author information available yet)
OBJECTIVE: The Task Force formed by ICMR aimed at studying the prevalence of congenital hypothyroidism and congenital adrenal hyperplasia, the template disorders included in all newborn screening programs, and to evaluate the unidentified challenges in its execution in health care services. It also intended to evaluate the feasibility of newborn screening with regards to different geo-ethnic regions from India. METHODS: Five metropolitan centers identified had further 2 to 11 centers; both the urban and the rural sectors were included and were considered representative of the northern, southern, eastern, western and central parts of the country...
March 17, 2018: Indian Journal of Pediatrics
https://www.readbyqxmd.com/read/29543924/congenital-adrenal-hyperplasia-clinical-symptoms-and-diagnostic-methods
#14
Rafał Podgórski, David Aebisher, Monika Stompor, Dominika Podgórska, Artur Mazur
The aim of this paper is a straightforward presentation of the steroidogenesis process and the most common type of congenital adrenal hyperplasia (CAH) - 21-hydroxylase deficiency - as well as the analytical diagnostic methods that are used to recognize this disease. CAH is a family of common autosomal recessive disorders characterized by impaired adrenal cortisol biosynthesis with associated androgen excess due to a deficiency of one or more enzymes in the steroidogenesis process within the adrenal cortex...
March 15, 2018: Acta Biochimica Polonica
https://www.readbyqxmd.com/read/29531157/testicular-adrenal-rest-tumors-in-boys-with-21-hydroxylase-deficiency-timely-diagnosis-and-follow-up
#15
Mirjana Kocova, Vesna Janevska, Violeta Anastasovska
BACKGROUND: Testicular adrenal rest tumors (TARTs) are found in 30-94% of adult males with congenital adrenal hyperplasia (CAH). We sought to explore TART appearance through yearly ultrasound examination of testes in young boys with CAH, and its association with metabolic control and genetic mutations. METHODS: Twenty-five boys with 21-hydroxylase deficiency in the age group 4-18 years diagnosed during the period 2001-2016 were included in the study. ACTH, 17-hydroxyprogesterone, androstenedione and testosterone were measured at 4-month intervals...
March 12, 2018: Endocrine Connections
https://www.readbyqxmd.com/read/29529521/prenatal-dexamethasone-treatment-in-the-context-of-at-risk-cah-pregnancies-long-term-behavioral-and-cognitive-outcome
#16
Leif Karlsson, Anna Nordenström, Tatja Hirvikoski, Svetlana Lajic
Dexamethasone (DEX) is used to prevent prenatal virilization in female fetuses with congenital adrenal hyperplasia (CAH). Since treatment has to be started before the genotype of the fetus is known, 7 out of 8 fetuses will be exposed to DEX without benefit. Previously, we have observed negative effects on cognition and behavior in DEX treated children. Here we evaluated neuropsychological functions, psychopathology and autistic traits in non-CAH DEX-treated adults exposed during the first trimester of fetal life (duration 6...
March 1, 2018: Psychoneuroendocrinology
https://www.readbyqxmd.com/read/29525535/long-term-urinary-symptoms-in-adolescent-and-adult-women-with-congenital-adrenal-hyperplasia
#17
M Bogdanska, A Morris, J M Hutson, Y Heloury, S R Grover
BACKGROUND: Congenital adrenal hyperplasia (CAH) is an autosomal recessive condition resulting in excess androgen production. Females are typically born with ambiguous genitalia and often undergo feminising genitoplasty in infancy or childhood. Recently, there has been considerable international debate as to whether distressing urinary symptoms in CAH patients are truly present and, if so, whether these urinary problems are a consequence of the feminising genitoplasty. OBJECTIVE: To identify and assess any urinary symptoms in an Australian cohort of adolescent and adult women with CAH who have undergone feminising genitoplasty in infancy, childhood or adolescence as a part of their management...
February 7, 2018: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/29525066/-diffuse-hypertrichosis-revealing-non-classical-congenital-adrenal-hyperplasia
#18
C Berthin, P Sibilia, J Martins-Hericher, A Donzeau, L Martin
BACKGROUND: Non-classical congenital adrenal hyperplasia (NC-CAH) is a recessive autosomal disease caused by a deficiency of adrenal steroidogenesis enzymes. It must be distinguished from classical CAH, either simple virilising or salt-wasting, diagnosed during the neonatal period and responsible for potentially lethal disorders of sexual differentiation. NC-CAH presents a simpler and less specific clinical picture. Herein, we present two cases comprising twin girls consulting for diffuse hypertrichosis...
March 7, 2018: Annales de Dermatologie et de Vénéréologie
https://www.readbyqxmd.com/read/29505858/characteristics-of-female-genital-restoration-surgery-for-congenital-adrenal-hyperplasia-using-a-large-scale-administrative-database
#19
Joshua D Roth, Jessica T Casey, Benjamin M Whittam, William E Bennett, Konrad M Szymanski, Mark P Cain, Richard C Rink
OBJECTIVES: To analyze nationwide information on the timing of surgical procedures, cost of surgery, hospital length of stay following surgery and surgical complications of female genital restoration surgery (FGRS) in females with congenital adrenal hyperplasia (CAH). METHODS: We used the Pediatric Health Information System database to identify patients with CAH who underwent their initial FGRS in 2004-2014. These patients were identified by an ICD-9 diagnosis code for adrenogenital disorders (255...
March 2, 2018: Urology
https://www.readbyqxmd.com/read/29502244/a-rare-case-of-hydrometrocolpos-from-persistent-urogenital-sinus-in-patient-affected-by-adrenogenital-syndrome
#20
REVIEW
Igino Simonetti, Piero Trovato, Francesco Verde, Luca Tarotto, Roberto Della Casa, Maria Concetta Lonardo, Gianfranco Vallone, Maria Grazia Caprio
Persistent urogenital sinus (PUGS) is a congenital pathological condition characterized by an abnormal communication between the urethra and vagina, which has an estimated incidence of 0.6/10,000 female births. It could be the only known malformation or part of a syndrome. PUGS is commonly shown by a pelvic mass, related to a distended bladder, hydrometrocolpos which is due to an obstruction leading to the dilation of the vagina and uterus (i.e., imperforate hymen, transverse vaginal septum or atresia, and PUGS) or both...
March 3, 2018: Journal of Ultrasound
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