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adrenal hyperplasia

Nathan Elie Frenk, Fernando Sebastianes, Antonio Marcondes Lerario, Maria Candida Barisson Villares Fragoso, Berenice Bilharinho Mendonca, Marcos Roberto de Menezes
OBJECTIVES: To evaluate the safety and long-term efficacy of computed tomography-guided percutaneous ethanol ablation for benign primary and secondary hyperfunctioning adrenal disorders. METHOD: We retrospectively evaluated the long-term results of nine patients treated with computed tomography-guided percutaneous ethanol ablation: eight subjects who presented with primary adrenal disorders, such as pheochromocytoma, primary macronodular adrenal hyperplasia and aldosterone-producing adenoma, and one subject with Cushing disease refractory to conventional treatment...
October 1, 2016: Clinics
Yasmeen Ganie, Colleen Aldous, Yusentha Balakrishna, Rinus Wiersma
BACKGROUND: The objective of the study was to describe the prevalence, clinical characteristics and aetiological diagnosis in children with disorders of sex development (DSDs) presenting to a tertiary referral centre. METHODS: This is a retrospective review of all cases of DSD referred to the Paediatric Endocrine Unit in Inkosi Albert Luthuli Central Hospital (IALCH) from January 1995 to December 2014. RESULTS: A total of 416 children (15...
October 18, 2016: Journal of Pediatric Endocrinology & Metabolism: JPEM
Brian Rayner
Although the consequences of hypertension are universal, Blacks (African Americans or Indigenous Africans) have been the subject of a differential approach to causation, outcome and treatment. Blacks have a greater propensity to salt sensitivity and suppressed plasma renin suggesting a predisposition to Na retention by the kidney. As a result blood pressure (BP) response to diuretics and amlodipine is better than inhibitors of the renin-angiotensin-system in monotherapy. Target organ damage is more frequent and blood pressure (BP) is more difficult to control despite more intensive therapy...
September 2016: Journal of Hypertension
Suzanne Drury, Sarah Mason, Fiona McKay, Kitty Lo, Christopher Boustred, Lucy Jenkins, Lyn S Chitty
Our UK National Health Service regional genetics laboratory offers NIPD for autosomal dominant and de novo conditions (achondroplasia, thanataphoric dysplasia, Apert syndrome), paternal mutation exclusion for cystic fibrosis and a range of bespoke tests. NIPD avoids the risks associated with invasive testing, making prenatal diagnosis more accessible to families at high genetic risk. However, the challenge remains in offering definitive diagnosis for autosomal recessive diseases, which is complicated by the predominance of the maternal mutant allele in the cell-free DNA sample and thus requires a variety of different approaches...
2016: Advances in Experimental Medicine and Biology
J Lindert, O Hiort, L Tüshaus, K Tafazzoli-Lari, L Wünsch
A variable spectrum of urogenital malformations exists in girls with congenital adrenal hyperplasia (CAH). The vagina may enter the urethra at a variable level, and relations to the sphincter complex vary accordingly. Furthermore, an enlarged clitoris and variations in the bladder sphincter anatomy can be found. Endoscopy, genitography or magnetic resonance imaging (MRI) are commonly used for the assessment of these anomalies, and to provide information for counselling and treatment. When surgery is planned, introitoplasty cosmetical reduction of the clitoris and labioplasty are discussed with the families; introitoplasty is the most demanding aspect...
September 10, 2016: Journal of Pediatric Urology
Christoph Degenhart, Julia Schneller, Andrea Osswald, Anna Pallauf, Anna Riester, Maximilian F Reiser, Martin Reincke, Felix Beuschlein
OBJECTIVE: To evaluate volumetric and densitometric properties of the adrenal glands in patients with unilateral and bilateral disease in comparison to normal controls. DESIGN: 77 patients (56 male and 21 female) diagnosed with primary aldosteronism (PA) with a mean age of 53±10 years were prospectively enrolled. Unenhanced and contrast enhanced CT scans were analyzed for adrenal volumes and mean densities. f These values were compared with normal controls and between PA subtypes...
October 17, 2016: Clinical Endocrinology
Rachel Bello, Yael Lebenthal, Liora Lazar, Shlomit Shalitin, Ariel Tenenbaum, Moshe Phillip, Liat de Vries
AIM: This study explored whether using the suggested diagnostic serum basal level of 17-hydroxyprogesterone (6.0 nmol/l) would lead to underdiagnosis of non-classical congenital adrenal hyperplasia. METHODS: We retrospectively studied 123 patients with non-classical congenital adrenal hyperplasia, defined as an adrenocorticotropic hormone-stimulated 17-hydroxyprogesterone level of more than 45nmol/l. Of these 13 had basal 17-hydroxyprogesterone levels of less than 6...
October 15, 2016: Acta Paediatrica
Veronica Gomez-Lobo, Anne-Marie Amies Oelschlager
Disorders (differences) of sexual development encompass a variety of conditions with atypical development of chromosomal, gonadal, or anatomic sex. Three of the most common differences of sex development conditions include congenital adrenal hyperplasia, complete androgen insensitivity, and Turner syndrome. Obstetrician-gynecologists who care for affected individuals in their practice must be familiar with the genetic, endocrine, and anatomic considerations of the most common conditions to provide optimal care...
October 6, 2016: Obstetrics and Gynecology
Beatriz D S F Bonamichi, Stella L M Santiago, Débora R Bertola, Chong A Kim, Nivaldo Alonso, Berenice B Mendonca, Tania A S S Bachega, Larissa G Gomes
P450 oxidoreductase deficiency (PORD) is a variant of congenital adrenal hyperplasia that is caused by POR gene mutations. The POR gene encodes a flavor protein that transfers electrons from nicotinamide adenine dinucleotide phosphate (NADPH) to all microsomal cytochrome P450 type II (including 21-hydroxylase, 17α-hydroxylase 17,20 lyase and aromatase), which is fundamental for their enzymatic activity. POR mutations cause variable impairments in steroidogenic enzyme activities that result in wide phenotypic variability ranging from 46,XX or 46,XY disorders of sexual differentiation, glucocorticoid deficiency, with or without skeletal malformations similar to Antley-Bixler syndrome to asymptomatic newborns diagnosed during neonatal screening test...
October 10, 2016: Archives of Endocrinology and Metabolism
Karolína Drbalová, Kateřina Herdová, Petr Krejčí, Monika Nývltová, Svatopluk Solař, Lenka Vedralová, Pavel Záruba, David Netuka, Petr Bavor
Multiple Endocrine Neoplasia (MEN) is a condition in which several endocrine organs of an individual are affected by adenoma, hyperplasia and less often carcinoma, either simultaneously or at different stages of life. Two existing syndromes, MEN1 and MEN2 (2A, 2B), in literature is also mentioned MEN4, are associated also with other non-endocrine disorders. MEN1 (Wermer syndrome) affects the pituitary, parathyroid, and pancreatic area. 95 % of patients show very early manifestation of hyperparathyroidism, often before 40 years of age...
2016: Vnitr̆ní Lékar̆ství
Jana Vrbíková
Congenital adrenal hyperplasia is a life-long disease requiring an integrated therapy. It may negatively influence the quality of life. In childhood, the main problems of the care of these patients involve sex determination and ensuring optimum growth and puberty. The therapeutic goals for adults are the prevention of Addisonian crisis and ensuring the best possible quality of life, including fertility.Key words: androgens - cardiovascular risk - congenital adrenal hyperplasia - bone density - testicular rest tumors...
2016: Vnitr̆ní Lékar̆ství
Ronak Ajmera, Arun Narayan, Shrikanth N, Divya Prabhu
No abstract text is available yet for this article.
January 2016: Journal of the Association of Physicians of India
Z Grubic, M Maskalan, K Stingl Jankovic, S Zvecic, K Dumic Kubat, N Krnic, R Zunec, J Ille, V Kusec, M Dumic
The CYP21A2 mutations that are in linkage disequilibrium with particular HLA-A, -B, -DRB1 alleles/haplotypes, cause deficiency of the 21-hydroxylase enzyme (21-OHD) and account for the majority of congenital adrenal hyperplasia (CAH) cases. The aim of this study was to investigate those associations with the p.V282L mutation linked to the non-classical (NC) form of CAH among Croatians. The study included parents of patients with the NC form of CAH, positive for the p.V282L mutation (N = 55) and cadaveric donor samples (N = 231)...
November 2016: HLA
Amy C Nadolski, Jessica E Markovich, Samuel H Jennings, Orla M Mahony
A 14-year-old neutered male domestic shorthaired cat was diagnosed with an adrenal cortical carcinoma causing hyperestrogenemia that resulted in mammary hyperplasia and sexual behavior. A right adrenalectomy and mammary gland biopsy were performed. Adrenal cortical neoplasia should be ruled out in any neutered male cat with mammary development and/or exhibiting sexual behavior.
October 2016: Canadian Veterinary Journal. la Revue Vétérinaire Canadienne
Henrik Falhammar, Jan Calissendorff, Charlotte Höybye
Cushing's syndrome due to ectopic adrenocorticotropic hormone production from adrenal medullary lesions has occasionally been described. We retrospectively reviewed all 164 cases of Cushing's syndrome and 77 cases of pheochromocytomas during 10 years. Of all cases with Cushing's syndrome, only two cases (1.2 %) were due to ectopic adrenocorticotropic hormone production from adrenal medullary lesions (one case of pheochromocytoma and one case of adrenal medullary hyperplasia). Of all pheochromocytomas only the above-mentioned case (1...
October 3, 2016: Endocrine
Frédérique Albarel, Jeanne Perrin, Margaux Jegaden, Florence Roucher-Boulez, Rachel Reynaud, Thierry Brue, Blandine Courbiere
Steroidogenic acute regulatory protein (StAR) mutations are the most frequent aetiologies of congenital lipoid adrenal hyperplasia (CLAH). Phenotypes may vary, and puberty may be absent in affected individuals. To date, only two pregnancies have been described in 46,XX CLAH patients with StAR mutations; these patients exhibited ovarian steroidogenesis along with spontaneous puberty and menarche and normal menses. The patient described here presented with CLAH caused by the homozygous (unreported, 1 bp) deletion c...
October 3, 2016: Human Reproduction
Fan Chen, Xiangyu Wang, Yang Wang, Hui Meng, Xinguo Hou, Yaofeng Zhu, Wei Gao, Xuewen Jiang, Shouzhen Chen, Zhaocun Zhang, Zhichuan Zou, Tianyi He, Yue Yang, Kejia Zhu, Yong Wang, Yaxiao Liu, Jianfeng Cui, Benkang Shi, Gang Yin
Extra-adrenal pheochromocytomas, or paragangliomas, are rare tumours that derive from extra-adrenal chromaffin cells. Cushing's syndrome (CS) caused by paragangliomas is extremely rare. We report a 53-year-old man with hypertension, diabetes, and symptoms of hypokalemia. Computer tomography (CT) revealed two retroperitoneal masses and bilateral adrenal hyperplasia. Together with the laboratory examinations, ectopic CS caused by multiple paragangliomas was highly suspected. The patient underwent resections of retroperitoneal tumours, left kidney, and left adrenal; postoperative histopathology confirmed two paragangliomas that were both positively stained for adrenocorticotropic hormone (ACTH)...
September 2016: Canadian Urological Association Journal, Journal de L'Association des Urologues du Canada
Todd D Nebesio, Jamie L Renbarger, Zeina M Nabhan, Sydney E Ross, James E Slaven, Lang Li, Emily C Walvoord, Erica A Eugster
BACKGROUND: Little is known about the comparative effects of different glucocorticoids on the adrenal and growth hormone (GH) axes in children with congenital adrenal hyperplasia (CAH). We sought to compare the effects of hydrocortisone (HC), prednisone (PDN), and dexamethasone (DEX) in children with classic CAH and to investigate a potential role of pharmacogenetics. METHODS: Subjects were randomly assigned to three sequential 6-week courses of HC, PDN, and DEX, each followed by evaluation of adrenal hormones, IGF-1, GH, and body mass index (BMI)...
2016: International Journal of Pediatric Endocrinology
Aikaterini A Nella, Ashwini Mallappa, Ashley F Perritt, Verena Gounden, Parag Kumar, Ninet Sinaii, Lori-Ann Daley, Alexander Ling, Chia-Ying Liu, Steven J Soldin, Deborah P Merke
CONTEXT: Classic congenital adrenal hyperplasia (CAH) management remains challenging, as supraphysiologic glucocorticoid doses are often needed to optimally suppress the ACTH-driven adrenal androgen overproduction. OBJECTIVE: To approximate physiologic cortisol secretion via continuous subcutaneous hydrocortisone infusion (CSHI) and evaluate the safety and efficacy of CSHI in difficult-to-treat CAH patients. DESIGN: Eight adult patients with classic CAH participated in a single-center open label phase I-II study comparing CSHI to conventional oral glucocorticoid treatment...
September 28, 2016: Journal of Clinical Endocrinology and Metabolism
Heino F L Meyer-Bahlburg, Jazmin A Reyes-Portillo, Jananne Khuri, Anke A Ehrhardt, Maria I New
Stigma defined as "undesired differentness" (Goffman, 1963) and subtyped as "experienced" or "enacted," "anticipated," and "internalized" has been documented for patients with diverse chronic diseases. However, no systematic data exist on the association of stigma with somatic intersexuality. The current report concerns women with classical congenital adrenal hyperplasia (CAH), the most prevalent intersex syndrome, and provides descriptive data on CAH-related stigma as experienced in the general social environment (excluding medical settings and romantic/sexual partners) during childhood, adolescence, and adulthood...
September 27, 2016: Archives of Sexual Behavior
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