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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
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March 9, 2018: Journal of Clinical Endocrinology and Metabolism
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
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
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
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
Aaron T Calvin, Smitha S Janardan, John J Condoluci, Rene Rugango, Eric Pretzsch, Gang Shu, Kenneth R Brown
We measure the rovibronic transitions 11 Σ, v = 0, J → 21 Σ, v' = 0-3, J' of CaH+ and obtain rotational constants for the 21 Σ state. The spectrum is obtained using two-photon photodissociation of CaH+ co-trapped with Doppler cooled Ca+ . The excitation is driven by a mode-locked, frequency-doubled Ti:Sapph laser, which is then pulse shaped to narrow the spectral bandwidth. The measured values of the rotational constants are in agreement with ab initio theory.
March 9, 2018: Journal of Physical Chemistry. A
Nicolize O'Dell, Luke Arnot, Chris Eric Janisch, Johan Ca Steyl
African horse sickness (AHS) is a fatal vector transmitted viral disease of horses caused by the African horse sickness virus (AHSV). This disease is characterised by circulatory and respiratory failure, resulting from vascular endothelial injury affecting many organs. The susceptibility of dogs to AHS has been demonstrated in the past following experimental infection through consumption of infected horse meat. clinical cases of AHS in dogs (cAHS) have been documented, without a history of ingesting infected horse meat, over a period of 12 years...
March 8, 2018: Veterinary Record
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
Henrik Falhammar, Hedi L Claahsen-van der Grinten, Nicole Reisch, Jolanta Slowikowska-Hilczer, Anna Nordenstrom, Robert Roehle, Claire Bouvattier, Baudewijntje P Kreukels, Birgit Koehler
OBJECTIVE: The knowledge about health status in adults with disorder of sex development (DSD) is scarce. DESIGN AND METHODS: A cross-sectional observational study in 14 European tertiary centers recruited 1040 participants (717 females, 311 males, 12 others) with DSD. Mean age was 32.4±13.6 year (range 16-75). The cohort was divided into: Turner (n=301), Klinefelter (n=224), XY-DSD (n=222), XX-DSD (excluding congenital adrenal hyperplasia (CAH) and 46,XX males)(n=21), 46,XX-CAH (n=226), and 45,X/46,XY (n=45)...
February 28, 2018: Endocrine Connections
Gautam Gowrisankaran, Claudio Lucarelli, Philipp Schmidt-Dengler, Robert Town
This paper seeks to understand the impact of the Medicare Rural Hospital Flexibility (Flex) Program on hospital choice and consumer welfare for rural residents. The Flex Program created a new class of hospital, the Critical Access Hospital (CAH), which receives more generous Medicare reimbursements in return for limits on capacity and length of stay. We find that conversion to CAH status resulted in a 4.7 percent drop in inpatient admissions to participating hospitals, almost all of which was driven by factors other than capacity constraints...
February 7, 2018: Journal of Health Economics
Heather V Nelson-Brantley, Debra J Ford, Karen L Miller, Kristin A Stegenga, Robert H Lee, Marjorie J Bott
OBJECTIVE: The aim of this study was to understand how nurses in a 25-bed critical-access hospital (CAH) led change to become the 1st to achieve Magnet®. BACKGROUND: Approximately 21% of the US population lives in rural areas served by CAHs. Rural nurse executives are particularly challenged with limited resources. METHODS: Staff nurses, nurse managers, interprofessional care providers, the chief nursing officer, and board of directors (n = 27) were interviewed...
March 2018: Journal of Nursing Administration
Jessica M Sisto, Fong W Liu, Mitchell E Geffner, Michael L Berman
Congenital adrenal hyperplasia (CAH) is an inherited disorder of adrenal steroidogenesis often diagnosed in infancy. Gynecologists may encounter adult patients with CAH due to the clinical effects of increased androgens, e.g. hirsutism, clitoromegaly, oligomenorrhea, or, rarely, pelvic masses. This case report reviews the association of para-ovarian adrenal rest tumors with CAH, and the role of gynecologists in their evaluation and treatment. A 23-year-old woman with CAH (21-hydroxyase deficiency) untreated for the past 5 years presented with a pelvic mass and elevated serum testosterone (1433 ng/dL) and plasma ACTH (1117 pg/mL)...
February 20, 2018: Gynecological Endocrinology
Alyssa Halper, Belen Sanchez, James S Hodges, Aaron S Kelly, Donald Dengel, Brandon M Nathan, Anna Petryk, Kyriakie Sarafoglou
BACKGROUND: Children with congenital adrenal hyperplasia (CAH) are exposed to fluctuating cortisol and androgen levels. The effects these hormonal states have on bone mineral density (BMD) and body composition are not well studied. OBJECTIVE: Compare BMD and body composition, including visceral adipose tissue (VAT) and Android:Gynoid (A:G) ratio, in children with CAH vs. healthy age-, sex-, and BMI-matched controls. METHODS: Forty-two cases with CAH (average age 12...
February 20, 2018: Clinical Endocrinology
Deok Hyun Moon, Inseong Hwang, Agamemnon Koutsospyros, Kyung Hoon Cheong, Yong Sik Ok, Won Hyun Ji, Jeong-Hun Park
Lead (Pb) and zinc (Zn) contaminated rice paddy soil was stabilized using natural (NSF) and calcined starfish (CSF). Contaminated soil was treated with NSF in the range of 0-10 wt% and CSF in the range of 0-5 wt% and cured for 28 days. Toxicity characteristic leaching procedure (TCLP) test was used to evaluate effectiveness of starfish treatment. Scanning electron microscopy-energy dispersive X-ray spectroscopy (SEM-EDX) analyses were conducted to investigate the mechanism responsible for effective immobilization of Pb and Zn...
February 3, 2018: Chemosphere
Paola Concolino, Alessandra Costella
Congenital adrenal hyperplasia (CAH) comprises a group of autosomal recessive disorders caused by complete or partial defects in one of the several steroidogenic enzymes involved in the synthesis of cortisol from cholesterol in the adrenal glands. More than 95-99% of all cases of CAH are caused by deficiency of steroid 21-hydroxylase, an enzyme encoded by the CYP21A2 gene. Currently, CYP21A2 genotyping is considered a valuable complement to biochemical investigations in the diagnosis of 21-hydroxylase deficiency...
February 15, 2018: Molecular Diagnosis & Therapy
Y Ganie, C Aldous, Y Balakrishna, R Wiersma
BACKGROUND: Congenital adrenal hyperplasia (CAH) caused by deficiency of the 21-hydoxylase (21-OH) enzyme is the most common form of CAH worldwide. OBJECTIVE: To evaluate the prevalence of CAH due to 21-OH deficiency, and its clinical presentation and biochemical profiles in affected children. METHODS: We performed a retrospective subset analysis of 44 children with confirmed CAH. RESULTS: All the children had classic CAH...
February 1, 2018: South African Medical Journal, Suid-Afrikaanse Tydskrif Vir Geneeskunde
Lena Wallensteen, Leif Karlsson, Valeria Messina, Anton Gezelius, Malin Thomsen Sandberg, Anna Nordenström, Tatja Hirvikoski, Svetlana Lajic
Prenatal dexamethasone (DEX) treatment in congenital adrenal hyperplasia (CAH) is effective in reducing virilization in affected girls, but potential long-term adverse effects are largely unknown. In this report we intended to explore potential side effects of DEX therapy to enhance the adequacy of future risk benefit analyses of DEX treatment. We investigated the long-term effects of first trimester prenatal DEX treatment on behavioral problems and temperament in children and adolescents aged 7-17 years...
February 6, 2018: Hormones and Behavior
Danúbia Silva Dos Santos, Guilherme Visconde Brasil, Isalira Peroba Rezende Ramos, Fernanda Cristina Paccola Mesquita, Tais Hanae Kasai-Brunswick, Michelle Lopes Araújo Christie, Gustavo Monnerat Cahli, Raiana Andrade Quintanilha Barbosa, Sandro Torrentes da Cunha, Jonathas Xavier Pereira, Emiliano Medei, Antonio Carlos Campos de Carvalho, Adriana Bastos Carvalho, Regina Coeli Dos Santos Goldenberg
BACKGROUND: Doxorubicin (Dox) is a chemotherapy drug with limited application due to cardiotoxicity that may progress to heart failure. This study aims to evaluate the role of cardiomyocytes derived from mouse embryonic stem cells (CM-mESCs) in the treatment of Dox-induced cardiomyopathy (DIC) in mice. METHODS: The mouse embryonic stem cell (mESC) line E14TG2A was characterized by karyotype analysis, gene expression using RT-PCR and immunofluorescence. Cells were transduced with luciferase 2 and submitted to cardiac differentiation...
February 5, 2018: Stem Cell Research & Therapy
Behzad S Khorashad, Behnaz Khazai, Ghasem M Roshan, Mehran Hiradfar, Mozhgan Afkhamizadeh, Tim C van de Grift
Women on average perform better than men on the "Reading the Mind in the Eyes" test (RMET) which is a measure of Theory of Mind (ToM). The aim of this study was to assess whether these sex differences are influenced by differences in prenatal testosterone levels through a study on individuals with Disorders of Sex Development and matched controls. ToM performance was examined using the RMET in female-assigned-at-birth individuals with increased prenatal testosterone exposure (Congenital Adrenal Hyperplasia (CAH) and 5-alpha Reductase type-2 Deficiency (5α-RD-2)), female-assigned-at-birth individuals with testosterone insensitivity (Complete Androgen Insensitivity Syndrome (CAIS)), and their age-matched unaffected male and female relatives...
December 14, 2017: Psychoneuroendocrinology
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