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adrenal hyperplasia

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
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
(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
Jian Zhang, Junhong Li, Junwei Ma, Hongxin Wang, Yin Yi
Hepatitis B cirrhosis is caused by liver cell necrosis, residual liver cell nodular regeneration, connective tissue hyperplasia and fiber formation, which frequently leads to adrenal insufficiency. Previous reports have demonstrated that human fibroblast growth factor (hFGF)-21 is a multifunctional protein that exhibits potential therapeutic value for metabolic diseases. The present study investigated the diagnostic value of hFGF-21 and analyzed the potential molecular mechanism in the progression of hepatitis B cirrhosis combined with adrenal insufficiency...
April 2018: Experimental and Therapeutic Medicine
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
David Taïeb, Abhishek Jha, Carole Guerin, Ying Pang, Karen T Adams, Clara C Chen, Pauline Romanet, Philippe Roche, Wassim Essamet, Alexander Ling, Martha M Quezado, Frédéric Castinetti, Fréderic Sebag, Karel Pacak
Context: MYC associated factor X (MAX) has been recently described as a new susceptibility pheochromocytoma (PHEO) gene with a total of approximately 40 reported cases. At present, no study has specifically described the functional imaging phenotype of MAX-related PHEO. Objective, Patients, and Design: The objective of this study was to present our experience with contrast-enhanced CT and 18F-FDOPA PET/CT imaging in 6 consecutive patients (4 at initial diagnosis and 2 at follow-up evaluation) with rare but clinically important MAX-related PHEOs...
March 8, 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
Kuo-How Huang, Chih-Chin Yu, Ya-Hui Hu, Chin-Chen Chang, Chieh-Kai Chan, Shih-Cheng Liao, Yao-Chou Tsai, Shih-Chieh Jeff Chueh, Vin-Cent Wu, Yen-Hung Lin
BACKGROUND/PURPOSE: Even with the increasing recognition of primary aldosteronism (PA) as a cause of refractory hypertension and an issue of public health, the consensus of its optimal surgical or medical treatment in Taiwan has not been reached. Our objective was to develop a clinical practice guideline that is feasible for real-world management of PA patients in Taiwan. METHODS: The Taiwan Society of Aldosteronism (TSA) Task Force recognized the above-mentioned issues and reached this Taiwan PA consensus at its inaugural meeting, in order to provide updated information of internationally acceptable standards, and also to incorporate our local disease characteristics and constraints into PA management...
March 2, 2018: Journal of the Formosan Medical Association, Taiwan Yi Zhi
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
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
Agathocles Tsatsoulis
Thyroid follicular cells, as well as adrenocortical cells, are endowed by an intrinsic heterogeneity regarding their growth potential, in response to various stimuli. This heterogeneity appears to constitute the underlying cause for the focal cell hyperplasia and eventually the formation of thyroid and adrenal nodules, under the influence of growth stimulatory factors. Among the main stimulatory factors are the pituitary tropic hormones, thyroid-stimulating hormone (TSH) or thyrotropin and adrenocorticotropic hormone (ACTH), which regulate the growth and function of their respective target cells, and the insulin/insulin-like growth factor system, that, through its mitogenic effects, can stimulate the proliferation of these cells...
February 26, 2018: Journal of Clinical Medicine
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
Therina du Toit, Maria A Stander, Amanda C Swart
In the present study an ultra-performance convergence chromatography tandem mass spectrometry (UPC2 -MS/MS) analytical method was developed and validated for the determination of 17 C19 and 14 C21 steroids, including C11-oxy C19 and C11-oxy C21 steroids. The limit of detection and limit of quantification ranged from 0.01 to 10 ng/mL and from 0.01 to 20 ng/mL, respectively, and the method shows the recovery, matrix effect and process efficiency of steroids isolated from a serum matrix to be within acceptable limits...
February 20, 2018: Journal of Chromatography. B, Analytical Technologies in the Biomedical and Life Sciences
John W Honour, E Conway, R Hodkinson, F Lam
The metabolites of cortisol, and the intermediates in the pathways from cholesterol to cortisol and the adrenal sex steroids can be analysed in a single separation of steroids by gas chromatography (GC) coupled to MS to give a urinary steroid profile (USP). Steroids individually and in profile are now commonly measured in plasma by liquid chromatography (LC) coupled with MS/MS. The steroid conjugates in urine can be determined after hydrolysis and derivative formation and for the first time without hydrolysis using GC-MS, GC-MS/MS and liquid chromatography with mass spectrometry (LC-MS/MS)...
February 23, 2018: Journal of Steroid Biochemistry and Molecular Biology
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
Frederick-Anthony Farrugia, Nicolaos Zavras, Georgios Martikos, Panagiotis Tzanetis, Anestis Charalampopoulos, Evangelos P Misiakos, Dimitrios Sotiropoulos, Nikolaos Koliakos
OBJECTIVES: The aim of this study was to present up to date information concerning the diagnosis and treatment of primary aldosteronism (PA). PA is the most common cause of endocrine hypertension. It has been reported up to 24% of selective referred hypertensive patients. METHODS: We did a search in Pub-Med and Google Scholar using the terms: PA, hyperaldosteronism, idiopathic adrenal hyperplasia, diagnosis of PA, mineralocorticoid receptor antagonists, adrenalectomy, and surgery...
January 1, 2018: Endocrine Regulations
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