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"Congenital Adrenal Hyperplasia"

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https://www.readbyqxmd.com/read/29230843/cardiac-function-in-pediatric-patients-with-congenital-adrenal-hyperplasia-due-to-21-hydroxylase-deficiency
#1
Christiaan F Mooij, Milanthy S Pourier, Gert Weijers, Chris L de Korte, Zina Fejzic, Hedi L Claahsen van der Grinten, Livia Kapusta
BACKGROUND: Hyperandrogenism and exogenous glucocorticoid excess may cause unfavorable changes in the cardiovascular risk profile of patients with congenital adrenal hyperplasia (CAH). OBJECTIVE: To evaluate the cardiac function in pediatric patients with CAH. PATIENTS AND METHODS: 27 pediatric patients with CAH, aged 8-16 years, were evaluated by physical examination, electrocardiogram (ECG), conventional echocardiography, tissue Doppler imaging and two-dimensional (2D) myocardial strain (rate) imaging...
December 11, 2017: Clinical Endocrinology
https://www.readbyqxmd.com/read/29229831/clinical-genetic-and-structural-basis-of-apparent-mineralocorticoid-excess-due-to-11%C3%AE-hydroxysteroid-dehydrogenase-type-2-deficiency
#2
Mabel Yau, Shozeb Haider, Ahmed Khattab, Chen Ling, Mehr Mathew, Samir Zaidi, Madison Bloch, Monica Patel, Sinead Ewert, Wafa Abdullah, Aysenur Toygar, Vitalii Mudryi, Maryam Al Badi, Mouch Alzubdi, Robert C Wilson, Hanan Said Al Azkawi, Hatice Nur Ozdemir, Wahid Abu-Amer, Jozef Hertecant, Maryam Razzaghy-Azar, John W Funder, Aisha Al Senani, Li Sun, Se-Min Kim, Tony Yuen, Mone Zaidi, Maria I New
Mutations in 11β-hydroxysteroid dehydrogenase type 2 gene (HSD11B2) cause an extraordinarily rare autosomal recessive disorder, apparent mineralocorticoid excess (AME). AME is a form of low renin hypertension that is potentially fatal if untreated. Mutations in the HSD11B2 gene result either in severe AME or a milder phenotype (type 2 AME). To date, ∼40 causative mutations have been identified. As part of the International Consortium for Rare Steroid Disorders, we have diagnosed and followed the largest single worldwide cohort of 36 AME patients...
December 11, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29223670/cystourethroscopy-versus-contrast-studies-in-urogenital-sinus-and-cloacal-anomalies-in-children
#3
Khaled Ashour, Sameh Shehata, Ahmed Osheba
BACKGROUND: Cloacal malformation is a spectrum of diseases affecting females, resulting in abnormal confluence of the urinary system, genital system, and/or gastrointestinal system. Proper reconstruction depends mainly on accurate preoperative illustration of the abnormal anatomy. Among the various modalities to delineate the urogenital sinus and the distances to confluence, lies the radiological contrast study, as well as the preoperative diagnostic cystourethroscopy. AIM OF THE STUDY: The aim of this study was to compare the accuracy of the contrast study and diagnostic cystourethroscopy in the demonstration of the exact changes in anatomy resulting from urogenital sinus / cloacal abnormalities...
November 14, 2017: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/29213166/precocious-puberty-an-experience-from-a-major-teaching-hospital-in-central-saudi-arabia
#4
Huda A Osman, Nasir A M Al-Jurayyan, Amir M I Babiker, Hessah M N Al-Otaibi, Reem D H AlKhalifah, Sharifah D A Al Issa, Sarar Mohamed
Precocious puberty is a developmental process that gives rise to secondary sexual characteristics before the age of 8 years in girls and 9 years in boys. In general, precocious puberty can be classified as central or peripheral. This is a retrospective hospital-based study was conducted at King Khalid University Hospital (KKUH), Riyadh, Saudi Arabia, during the period January 1990 and December 2016. Data were abstracted from the medical records of patients diagnosed with precocious puberty, with special emphasis on age, sex, clinical characteristics, and relevant hormonal assay...
2017: Sudanese Journal of Paediatrics
https://www.readbyqxmd.com/read/29213133/plasma-metabolomic-profile-varies-with-glucocorticoid-dose-in-patients-with-congenital-adrenal-hyperplasia
#5
Mohammad A Alwashih, David G Watson, Ruth Andrew, Roland H Stimson, Manal Alossaimi, Gavin Blackburn, Brian R Walker
Glucocorticoid replacement therapy is the mainstay of treatment for congenital adrenal hyperplasia (CAH) but has a narrow therapeutic index and dose optimisation is challenging. Metabolomic profiling was carried out on plasma samples from 117 adults with 21-hydroxylase deficiency receiving their usual glucocorticoid replacement therapy who were part of the CaHASE study. Samples were profiled by using hydrophilic interaction chromatography with high resolution mass spectrometry. The patients were also profiled using nine routine clinical measures...
December 6, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29201068/gender-identity-in-patients-with-congenital-adrenal-hyperplasia
#6
Maryam Razzaghy-Azar, Sakineh Karimi, Elham Shirazi
Background: Sex assignment in infancy for patients with disorder of sex development (DSD) is a challenging problem. Some of the patients with congenital adrenal hyperplasia (CAH) have DSD that may affect their gender identity. Objectives: The study aimed to assess gender identity in patients with CAH. Methods: In this study, 52 patients with CAH, including 22 prepubertal children and 30 adolescents and adults, were assessed using two separate gender identity questionnaires for children and adults based on the criteria of diagnostic and statistical manual of mental disorders, 5th edition...
July 2017: International Journal of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29200252/fetal-adrenal-gland-enlargement-prenatal-and-postnatal-management
#7
(no author information available yet)
BACKGROUND: The enlargement of suprarenal gland is related to preterm birth and the birth weight. The ultrasound measurement of fetal adrenal gland volume may identify women at risk for impending preterm birth. The aim of our study was to investigate the newborns in the region of western Slovakia followed up due to suprarenal gland enlargement. To set the ratio of prenatally diagnosed suprarenal gland enlargment, postnatal managment and treatment and interventions. The newborns with congenital adrenal hyperplasia were excluded...
November 4, 2017: Neuro Endocrinology Letters
https://www.readbyqxmd.com/read/29176024/how-often-are-clinicians-performing-genital-exams-in-children-with-disorders-of-sex-development
#8
Stefani S Tica, Erica A Eugster
BACKGROUND: We sought to determine the frequency with which genital exams (GEs) are performed in children with disorders of sex development (DSD) and ambiguous genitalia (AG) during routine visits to the pediatric endocrine clinic. METHODS: Medical records of children with DSD and AG seen at one large academic center since 2007 were reviewed. Data analyzed included diagnosis, sex of rearing, age, initial or follow up visit, number of individuals present and sex of the pediatric endocrinologist...
November 25, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/29174200/group-2-adrenal-insufficiency-screening-methods-and-confirmation-of-diagnosis
#9
Philippe Chanson, Laurence Guignat, Bernard Goichot, Olivier Chabre, Dinane Samara Boustani, Rachel Reynaud, Dominique Simon, Antoine Tabarin, Damien Gruson, Yves Reznik, Marie-Laure Raffin Sanson
A diagnosis of adrenal insufficiency should be suspected in the presence of a number of non-specific symptoms (fatigue, anorexia, weight loss, hypotension, hyponatremia and hyperkalemia amongst adrenal causes of insufficiency). The diagnosis should be considered in case of pituitary disease or a state of shock. Treatment should be commenced immediately without waiting for confirmation from biochemical tests, which rely on cortisol level at 8am (expected to be low) and on ACTH level (expected to be high in the case of primary adrenal insufficiency)...
November 22, 2017: Annales D'endocrinologie
https://www.readbyqxmd.com/read/29165577/quantitative-mri-brain-in-congenital-adrenal-hyperplasia-in-vivo-assessment-of-the-cognitive-and-structural-impact-of-steroid-hormones
#10
Emma A Webb, Lucy Elliott, Dominic Carlin, Martin Wilson, Kirsty Hall, Jennifer Netherton, Julie Reed, Tim G Barrett, Vijay Salwani, Jon D Clayden, Wiebke Arlt, Nils Krone, Andrew C Peet, Amanda G Wood
Context: Brain white matter hyper-intensities are seen on routine clinical imaging in 46% of adults with congenital adrenal hyperplasia (CAH). The extent and functional relevance of these abnormalities have not been studied using quantitative MRI analysis. Objective: To examine white matter microstructure, neural volumes and CNS metabolites in CAH due to 21-hydroxylase deficiency (21OHD) and to determine whether identified abnormalities are associated with cognition, glucocorticoid and androgen exposure...
November 20, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29164520/adrenal-myelolipoma-a-comprehensive-review
#11
REVIEW
Ábel Decmann, Pál Perge, Miklós Tóth, Peter Igaz
INTRODUCTION: Adrenal myelolipoma is an invariably benign neoplasm of the adrenal gland that is the second most common primary adrenal incidentaloma following adrenocortical adenomas. It is composed of elements of adipose tissue and extramedullary hematopoiesis. Hypotheses on stem cells and hormonal factors have been formulated regarding its pathogenesis that is still obscure. Despite its benign behavior, adrenal myelolipoma is clinically relevant as it might cause significant difficulties in the differential diagnosis of adrenal tumors...
November 21, 2017: Endocrine
https://www.readbyqxmd.com/read/29157626/risk-association-of-congenital-anomalies-in-patients-with-ambiguous-genitalia-a-22-year-single-center-experience
#12
Jennifer M Heeley, Abby S Hollander, Paul F Austin, Diane F Merritt, Victoria G Wesevich, Ina E Amarillo
BACKGROUND: Ambiguous genitalia refers to a form of differences of sex development (DSD) wherein the appearance of the external genitalia is atypical. This rare condition presents challenges in decision-making and clinical management. Review of historical data may reveal areas for clinical research to improve care for patients with ambiguous genitalia. OBJECTIVE: This chart review was performed to identify patients with ambiguous genitalia, and to classify them as having 46,XX DSD, 46,XY DSD, or sex chromosome DSD...
November 17, 2017: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/29157486/nouveaut%C3%A3-s-dans-l%C3%A2-hyperplasie-cong%C3%A3-nitale-des-surr%C3%A3-nales-new-insights-in-congenital-adrenal-hyperplasia
#13
L Dumeige, C Bouvattier, M Lombès
Congenital adrenal hyperplasia is an autosomal recessive disease due to functional abnormalities of adrenal steroid enzymes. The most common form of the disease is due to a 21-hydroxylase deficiency. The classical forms (most severe) are characterized by a deficiency in cortisol and sometimes in aldosterone, which may compromise the vital prognosis of neonates, and by an increase in androgen synthesis, leading to the virilization of girls' external genitalia at birth, followed by clinical signs of hyperandrogenism during childhood and adolescence...
October 2017: Annales D'endocrinologie
https://www.readbyqxmd.com/read/29127765/high-aldosterone-and-cortisol-levels-in-salt-wasting-congenital-adrenal-hyperplasia-a-clinical-conundrum
#14
Sirisha Kusuma Boddu, Sheeja Madhavan
BACKGROUND: Salt wasting syndrome (hyponatremia, hyperkalemia, dehydration, metabolic acidosis) in early infancy could be caused by either mineralocorticoid deficiency as in congenital adrenal hyperplasia (CAH) and adrenal insufficiency or mineralocorticoid resistance as in pseudohypoaldosteronism (PHA). In salt wasting CAH, serum aldosterone and cortisol levels are expected to be low. Cross reactivity between high levels of adrenal steroid precursors and aldosterone has recently been reported resulting in elevated aldosterone levels in CAH, leading to difficulty in differentiating between CAH and PHA...
November 11, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/29118987/massive-adrenal-incidentalomas-and-late-diagnosis-of-congenital-adrenal-hyperplasia-in-prostate-cancer
#15
Xin Feng, Gregory Kline
In a 61-year-old Caucasian male with prostate cancer, leuprolide and bicalutamide failed to suppress the androgens. He presented to endocrinology with persistently normal testosterone and incidental massive (up to 18 cm) bilateral adrenal myelolipomas on CT scan. Blood test did not reveal metanephrine excess. The patient was noted to have short stature (151 cm) and primary infertility. Elementary school photographs demonstrated precocious puberty. Physical examination revealed palpable abdominal (adrenal) masses...
2017: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/29073619/sodium-chloride-supplementation-is-not-routinely-performed-in-the-majority-of-german-and-austrian-infants-with-classic-salt-wasting-congenital-adrenal-hyperplasia-and-has-no-effect-on-linear-growth-and-hydrocortisone-or-fludrocortisone-dose
#16
Walter Bonfig, Friedhelm Roehl, Stefan Riedl, Jürgen Brämswig, Annette Richter-Unruh, Susanne Fricke-Otto, Angela Hübner, Markus Bettendorf, Eckhard Schönau, Helmut Dörr, Reinhard W Holl, Klaus Mohnike
INTRODUCTION: Sodium chloride supplementation in salt-wasting congenital adrenal hyperplasia (CAH) is generally recommended in infants, but its implementation in routine care is very heterogeneous. OBJECTIVE: To evaluate oral sodium chloride supplementation, growth, and hydrocortisone and fludrocortisone dose in infants with salt-wasting CAH due to 21-hydroxylase in 311 infants from the AQUAPE CAH database. RESULTS: Of 358 patients with classic CAH born between 1999 and 2015, 311 patients had salt-wasting CAH (133 females, 178 males)...
October 26, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/29068510/characteristics-of-adrenal-incidentalomas-in-a-new-zealand-centre
#17
Z Goh, I Phillips, P J Hunt, S Soule, T J Cawood
BACKGROUND: Management of adrenal incidentalomas (AI) is becoming more conservative, based on international data showing a low incidence of functional or malignant lesions. The clinical characteristics of AI in New Zealand are unknown. Therefore, whether the AI guidelines apply to the New Zealand population is also unknown. AIMS: To investigate the clinical characteristics of patients with AI presenting to a tertiary-care centre in New Zealand. METHOD: This study prospectively evaluated consecutive patients aged 18 or older with AI, 1 cm or larger, diagnosed in Canterbury, New Zealand...
October 25, 2017: Internal Medicine Journal
https://www.readbyqxmd.com/read/29046104/how-the-child-s-gender-matters-for-families-having-a-child-with-congenital-adrenal-hyperplasia
#18
Louise Fleming, Kathleen Knafl, Marcia Van Riper
Children with congenital adrenal hyperplasia (CAH) are exposed to high levels of testosterone in utero often resulting in nontypical genitalia at birth for girls. The purpose of this analysis, which draws on data from a larger study, was to examine, based on the gender of the child, the family experiences of having a child with CAH. Sixteen parents were interviewed, and comparisons were made across all categories coded in the parents' interviews to examine similarities and differences in the experiences of families based on the child's gender...
October 1, 2017: Journal of Family Nursing
https://www.readbyqxmd.com/read/29038332/gata-transcription-factors-in-testicular-adrenal-rest-tumours
#19
Manon Engels, Paul N Span, Rod T Mitchell, Joop J T M Heuvel, Monica A Marijnissen-van Zanten, Antonius E van Herwaarden, Christina A Hulsbergen-van de Kaa, Egbert Oosterwijk, Nike M Stikkelbroeck, Lee B Smith, Fred C G J Sweep, Hedi L Claahsen-van der Grinten
Testicular adrenal rest tumours (TARTs) are benign adrenal-like testicular tumours that frequently occur in male patients with congenital adrenal hyperplasia. Recently, GATA transcription factors have been linked to the development of TARTs in mice. The aim of our study was to determine GATA expression in human TARTs and other steroidogenic tissues. We determined GATA expression in TARTs (n = 16), Leydig cell tumours (LCTs; n = 7), adrenal (foetal (n = 6) + adult (n = 10)) and testis (foetal (n = 13) + adult (n = 8))...
November 2017: Endocrine Connections
https://www.readbyqxmd.com/read/29035424/cyp21a2-mutation-update-comprehensive-analysis-of-databases-and-published-genetic-variants
#20
Leandro Simonetti, Carlos D Bruque, Cecilia S Fernández, Belén Benavides-Mori, Marisol Delea, Jorge E Kolomenski, Lucía D Espeche, Noemí D Buzzalino, Alejandro D Nadra, Liliana Dain
Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders of adrenal steroidogenesis. Disorders in steroid 21-hydroxylation account for over 95% of patients with CAH. Clinically, the 21-hydroxylase deficiency has been classified in a broad spectrum of clinical forms, ranging from severe or classical, to mild late onset or non-classical. Known allelic variants in the disease causing CYP21A2 gene are spread among different sources. Until recently, most variants reported have been identified in the clinical setting, which presumably bias described variants to pathogenic ones, as those found in the CYPAlleles database...
October 16, 2017: Human Mutation
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