keyword
MENU ▼
Read by QxMD icon Read
search

adrenal hyperplasia

keyword
https://www.readbyqxmd.com/read/28938470/genetic-disruption-of-21-hydroxylase-in-zebrafish-causes-interrenal-hyperplasia
#1
Helen Eachus, Andreas Zaucker, James A Oakes, Aliesha Griffin, Meltem Weger, Tülay Güran, Angela Taylor, Abigail Harris, Andy Greenfield, Jonathan L Quanson, Karl-Heinz Storbeck, Vincent T Cunliffe, Ferenc Müller, Nils Krone
Congenital adrenal hyperplasia is a group of common inherited disorders leading to glucocorticoid deficiency. Most cases are caused by 21-hydroxylase deficiency (21OHD). The systemic consequences of imbalanced steroid hormone biosynthesis due to severe 21OHD remains poorly understood. Therefore, we have developed a zebrafish model for 21OHD, which focuses on the impairment of glucocorticoid biosynthesis. A single 21-hydroxylase gene (cyp21a2) is annotated in the zebrafish genome based on sequence homology. Our in silico analysis of the Cyp21a2 protein sequence suggests a sufficient degree of similarity for the usage of zebrafish cyp21a2 to model aspects of human 21OHD in vivo...
September 13, 2017: Endocrinology
https://www.readbyqxmd.com/read/28931750/adrenal-gipr-expression-and-chromosome-19q13-microduplications-in-gip-dependent-cushing-s-syndrome
#2
Anne-Lise Lecoq, Constantine A Stratakis, Say Viengchareun, Ronan Chaligné, Lucie Tosca, Vianney Deméocq, Mirella Hage, Annabel Berthon, Fabio R Faucz, Patrick Hanna, Hadrien-Gaël Boyer, Nicolas Servant, Sylvie Salenave, Gérard Tachdjian, Clovis Adam, Vanessa Benhamo, Eric Clauser, Anne Guiochon-Mantel, Jacques Young, Marc Lombès, Isabelle Bourdeau, Dominique Maiter, Antoine Tabarin, Jérôme Bertherat, Hervé Lefebvre, Wouter de Herder, Estelle Louiset, André Lacroix, Philippe Chanson, Jérôme Bouligand, Peter Kamenický
GIP-dependent Cushing's syndrome is caused by ectopic expression of glucose-dependent insulinotropic polypeptide receptor (GIPR) in cortisol-producing adrenal adenomas or in bilateral macronodular adrenal hyperplasias. Molecular mechanisms leading to ectopic GIPR expression in adrenal tissue are not known. Here we performed molecular analyses on adrenocortical adenomas and bilateral macronodular adrenal hyperplasias obtained from 14 patients with GIP-dependent adrenal Cushing's syndrome and one patient with GIP-dependent aldosteronism...
September 21, 2017: JCI Insight
https://www.readbyqxmd.com/read/28931575/case-report-of-clitoral-hypertrophy-in-2-extremely-premature-girls-with-an-ovarian-cyst
#3
Anne-Laure Nerré, Pierre Bétrémieux, Sylvie Nivot-Adamiak
Neonatal clitoromegaly is mainly attributed to in utero androgen exposure secondary to congenital adrenal hyperplasia. We report on 2 extremely premature girls with clitoromegaly, increased androgen levels, no salt wasting syndrome, and ovarian cyst. In case 1, the cyst liquid was aspired during ovarian hernia surgery and revealed high androgen levels. After aspiration, serum androgen levels decreased, as did clitoral size. In case 2, an ovarian cyst was seen on pelvic ultrasound. Aspiration was not indicated...
September 20, 2017: Pediatrics
https://www.readbyqxmd.com/read/28929506/factitious-acth-dependent-apparent-hypercortisolism-the-problem-with-late-night-salivary-cortisol-measurements-collected-at-home
#4
G A Kline, J D Buse, J G Van Der Gugten, D T Holmes, A C Chin, S M H Sadrzadeh
Cushing's Syndrome (CS) is critical to identify because of the numerous and sometimes irreversible sequelae. Surreptitious glucocorticoid use is usually a straightforward consideration in the Cushingoid patient having suppressed ACTH levels, in the absence of adrenal mass or hyperplasia, and in whom screening tests for CS have unexpectedly low or high results depending on the specific steroid used and vulnerability of the assay employed to analytical cross-reactivity. We present a case of a patient with factitious hypercortisolism without suppressed ACTH...
September 20, 2017: Clinical Endocrinology
https://www.readbyqxmd.com/read/28923284/fertility-outcome-and-information-on-fertility-issues-in-individuals-with-different-forms-of-disorders-of-sex-development-findings-from-the-dsd-life-study
#5
Jolanta Słowikowska-Hilczer, Angelica Lindén Hirschberg, Hedi Claahsen-van der Grinten, Nicole Reisch, Claire Bouvattier, Ute Thyen, Peggy Cohen Kettenis, Robert Roehle, Birgit Köhler, Anna Nordenström
OBJECTIVE: To investigate fertility outcome in individuals with different forms of disorders of sex development (DSD), if assisted reproductive technology (ART) was used, and the patients' satisfaction with the information they had received. DESIGN: A cross-sectional multicenter study, dsd-LIFE. SETTING: Not applicable. PATIENT(S): A total of 1,040 patients aged ≥16 years with different DSD diagnoses participated...
September 15, 2017: Fertility and Sterility
https://www.readbyqxmd.com/read/28917585/total-urogenital-sinus-mobilization-for-ambiguous-genitalia
#6
Vinicius Menezes Jesus, Francisco Buriti, Rodrigo Lessa, Maria Betânia Toralles, Luciana Barros Oliveira, Ubirajara Barroso
INTRODUCTION: Genital ambiguity is a very common phenomenon in disorders of sex development (DSD). According to the Chicago Consensus 2006, feminizing genitoplasty, when indicated, should be performed in the most virilized cases (Prader III to V). Advances in the knowledge of genital anatomy in DSD have enabled the development and improvement of various surgical techniques. Mobilization of the urogenital sinus (MUS), first described by Peña, has become incorporated by most surgeons. However, the proximity of the urethral sphincter prompts concern over urinary incontinence, especially for full mobilization of the urogenital sinus...
August 24, 2017: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/28916336/renal-tubular-and-adrenal-medullary-tumors-in-the-2-year-rat-study-with-canagliflozin-confirmed-to-be-secondary-to-carbohydrate-glucose-malabsorption-in-the-15-month-mechanistic-rat-study
#7
Sandra De Jonghe, Mark D Johnson, Rao N V S Mamidi, Petra Vinken, Bianca Feyen, Godelieve Lammens, Jim Proctor
During preclinical development of canagliflozin, an SGLT2 inhibitor, treatment-related pheochromocytomas, renal tubular tumors (RTT), and testicular Leydig cell tumors were reported in the 2-year rat toxicology study. In a previous 6-month rat mechanistic study, feeding a glucose free diet prevented canagliflozin effects on carbohydrate malabsorption as well as the increase in cell proliferation in adrenal medulla and kidneys, implicating carbohydrate malabsorption as the mechanism for tumor formation. In this chronic study male Sprague-Dawley rats were dosed orally with canagliflozin at high dose-levels (65 or 100 mg/kg/day) for 15 months and received either a standard diet or a glucose-free diet...
September 12, 2017: Chemico-biological Interactions
https://www.readbyqxmd.com/read/28911199/age-dependent-effects-of-armc5-haploinsufficiency-on-adrenocortical-function
#8
A Berthon, F R Faucz, S Espiard, L Drougat, J Bertherat, C A Stratakis
Inactivating mutations in the Armadillo repeat-containing 5 (ARMC5) gene have recently been discovered in primary macronodular adrenal hyperplasia (PMAH), a cause of Cushing syndrome. Biallelic ARMC5 inactivation in PMAH suggested that ARMC5 may have tumor suppressor functions in the adrenal cortex. We generated and characterized a new mouse model of Armc5 deficiency. Almost all Armc5 knockout mice died during early embryonic development, around 6.5 and 8.5 days. Knockout embryos did not undergo gastrulation, as demonstrated by the absence of mesoderm development at E7...
September 15, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28904009/diagnosis-of-endocrine-disease-18-oxocortisol-and-18-hydroxycortisol-is-there-clinical-utility-of-these-steroids
#9
Jacques Lenders, Tracy A Williams, Martin Reincke, Celso E Gomez-Sanchez
Since the early nineteen eighties 18-hydroxycortisol and 18-oxocortisol have attracted attention when it was shown that the urinary excretion of these hybrid steroids was increased in primary aldosteronism. The development and more widespread use of specific assays has improved the understanding of their role in the (patho)physiology of adrenal disorders. The adrenal site of synthesis is not fully understood although it is clear that for the synthesis of 18-hydroxycortisol and 18-oxocortisol the action of both aldosterone synthase (zona glomerulosa) and 17α-hydroxylase (zona fasciculata) is required with cortisol as main substrate...
September 13, 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28898882/hospitalisation-in-children-with-adrenal-insufficiency-and-hypopituitarism-is-there-a-differential-burden-between-boys-and-girls-and-between-age-groups
#10
R Louise Rushworth, Georgina L Chrisp, Benjamin Dean, Henrik Falhammar, David J Torpy
BACKGROUND/AIMS: To determine the burden of hospitalisation in children with adrenal insufficiency (AI)/hypopituitarism in Australia. METHODS: A retrospective study of Australian hospitalisation data. All admissions between 2001 and 2014 for patients aged 0-19 years with a principal diagnosis of AI/hypopituitarism were included. Denominator populations were extracted from national statistics datasets. RESULTS: There were 3,779 admissions for treatment of AI/hypopituitarism in patients aged 0-19 years, corresponding to an average admission rate of 48...
September 12, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/28879650/vascular-and-cardiac-function-in-young-adults-with-classical-congenital-adrenal-hyperplasia
#11
Joanna Wierzbicka-Chmiel, Artur Chmiel, Sławomir Rychlik, Monika Ogrodowczyk-Bobik, Bogdan Marek, Dariusz Kajdaniuk
INTRODUCTION: Patients with classical congenital adrenal hyperplasia (CAH) have increased cardiovascular risk, but the vascular and cardiac function during longitudinal corticoids replacement therapy is not known thoroughly. MATERIAL AND METHODS: Cross-sectional study of 19 Caucasian adults with CAH (age 23.7 ± 3.8 years; twelve males) compared to 20 healthy volunteers matched for origin, sex, age, and body mass index (BMI). All of the participants were assessed for flow mediated dilatation of the brachial artery (FMD), intima-media thickness of the common carotid artery (cIMT) and common femoral artery (fIMT), standard echocardiography, and global longitudinal left ventricular function using two-dimensional speckle-tracking echocardiography (LSTE)...
September 7, 2017: Endokrynologia Polska
https://www.readbyqxmd.com/read/28879515/testicular-adrenal-rest-tumors-in-congenital-adrenal-hyperplasia-cross-sectional-study-of-51-croatian-male-patients
#12
Miroslav Dumic, Vlatko Duspara, Zorana Grubic, Sasa Kralik Oguic, Veselin Skrabic, Vesna Kusec
Testicular adrenal rest tumors (TARTs) are common cause of infertility in males with congenital adrenal hyperplasia (CAH). We studied the role of genotype and disease regulation on TART development, their impact on gonadal function, and frequency in 47 21-hydroxylase deficiency (21-OHD) and four 11-hydroxylase deficiency (11-OHD) male patients. Testicular ultrasound (TU), genotype, hormonal measurement in 51, and spermiogram in five patients were performed. TARTs were detected in 14 SW21-OHD and one 11-OHD patient: 1/8 patients aged <7 years (1...
September 6, 2017: European Journal of Pediatrics
https://www.readbyqxmd.com/read/28877721/a-case-of-adrenocoricotrophic-hormone-independent-bilateral-adrenocortical-macronodular-hyperplasia-concomitant-with-primary-aldosteronism
#13
Mao Tokumoto, Naoyoshi Onoda, Yukie Tauchi, Shinichiro Kashiwagi, Satoru Noda, Norikazu Toi, Masahumi Kurajoh, Masahiko Ohsawa, Yuto Yamazaki, Hironobu Sasano, Kosei Hirakawa, Masaichi Ohira
BACKGROUND: Adrenocoricotrophic hormone (ACTH) - independent bilateral adrenocortical macronodular hyperplasia (AIMAH) is a rare cause of Cushing's syndrome, and is characterized by bilateral adrenal hyperplasia. However, Primary aldosteronism (PA) is a relatively common adrenal disease. CASE PRESENTATION: A 56-year-old man who has been treated hypertension and diabetes mellitus was detected low plasma potassium level with an elevated level of plasma aldosterone concentration and bilateral adrenal swelling...
September 6, 2017: BMC Surgery
https://www.readbyqxmd.com/read/28871709/unusual-presentations-of-carney-complex-in-patient-with-a-novel-prkar1a-mutation
#14
Safak Akin, Senem Noyan, Selcuk Dagdelen, Ilhan Pasaoglu, Volkan Kaynaroglu, Melike Mut Askun, Cenk Yucel Bilen, Hayyam Kiratli, Dilek Ertoy Baydar, Sevgen Onder, Cenk Sokmensuer, Kudret Aytemir, Gul Erkin, Pinar Ozgen Kiratli, Mehmet Alikasifoglu, Tomris Erbas
Carney Complex (CNC) is a multiple neoplasia syndrome characterized by skin tumors and pigmented lesions, myxomas, and various endocrine tumors. The aim of this case report was to describe a case of CNC with a novel PRKAR1A mutation. A man aged 46 years with a medical history of surgery for cardiac myxomas at the age of 39 was admitted to our hospital because of four newly-developed heart masses. The histologic examination confirmed cardiac myxomas. He had many presentations of CNC such as growth hormone (GH) and prolactin (PRL)-secreting mixed pituitary adenoma, benign thyroid nodule, large-cell calcifying Sertoli cell tumor (LCCST), and superficial angiomyxoma...
August 5, 2017: Neuro Endocrinology Letters
https://www.readbyqxmd.com/read/28870780/mutational-analysis-of-rare-subtypes-of-congenital-adrenal-hyperplasia-in-a-highly-inbred-population
#15
Meshael M Alswailem, Ohoud S Alzahrani, Doha S Alhomaidah, Rahma Alasmari, Ebtesam Qasem, Avaniyapuram Kannan Murugan, Afaf Alsagheir, Imad Brema, Bassam Ben Abbas, Mohammed Almehthel, Ali Almeqbali, Ali S Alzahrani
CONTEXT: Apart from 21 Hydroxylase deficiency, other subtypes of congenital adrenal hyperplasia (CAH) are rare. We studied the clinical features and molecular genetics of a relatively large series of patients with CYP17A1, HSD3β2 and StAR deficiencies. PATIENTS AND METHODS: We studied 21 patients including 7 patients with CYP17A1, 10 patients with HSD3β2 and 4 patients with StAR deficiencies. For mutation detection, we isolated DNA from peripheral leucocytes, amplified genes of interest using polymerase chain reaction and directly sequenced the amplicons using Dideoxy Chain Termination method...
September 6, 2017: Molecular and Cellular Endocrinology
https://www.readbyqxmd.com/read/28853111/staged-bilateral-laparoscopic-adrenalectomy-for-infantile-acth-independent-cushing-s-syndrome-bilateral-micronodular-non-pigmented-adrenal-hyperplasia-a-case-report
#16
Nasser Simforoosh, Maryam Razzaghy Azar, Mohmmad Hossein Soltani, Mona Nourbakhsh, Hamidreza Shemshaki
ACTH-independent Cushing's syndrome is an uncommon disorder in children. While laparoscopic adrenalectomy is well-established in adults, it is rarely used in infants and is associated with some concerns. A seven-month infant was referred to our hospital due to progressive signs and symptoms of Cushing's syndrome. Laboratory data confirmed ACTH-independent hypercortisolism. No history of exogenous corticosteroid contact was observed. The patient underwent left transperitoneal laparoscopic adrenalectomy when she was 7 months old, nevertheless,complete response was not seen...
August 29, 2017: Urology Journal
https://www.readbyqxmd.com/read/28845624/prenatal-treatment-with-dexamethasone-in-suspected-congenital-adrenal-hyperplasia-and-orofacial-cleft-a-case-report-and-review-of-the-literature
#17
Yvonne Rijk, Janielle van Alfen-van der Velden, Hedi L Claahsen-van der Grinten
Congenital adrenal hyperplasia (CAH) due to 21 hydroxylase deficiency is a genetic disorder that leads to hypocortisolism, hyperandrogenism and, in the most severe forms, also to hypoaldosteronism. Girls with classic CAH are born with virilized external genitalia. Prenatal dexamethasone (DXM) treatment can reduce virilization but may have side effects for mother and fetus. We present the first case of a girl who was born with CAH and an orofacial cleft. She was treated with prenatal DXM to prevent virilization...
September 2017: Pediatric Endocrinology Reviews: PER
https://www.readbyqxmd.com/read/28844072/update-in-diagnosis-and-management-of-primary-aldosteronism
#18
REVIEW
Sofia M Dick, Marina Queiroz, Bárbara L Bernardi, Angélica Dall'Agnol, Letícia A Brondani, Sandra P Silveiro
Primary aldosteronism (PA) is a group of disorders in which aldosterone is excessively produced. These disorders can lead to hypertension, hypokalemia, hypervolemia and metabolic alkalosis. The prevalence of PA ranges from 5% to 12% around the globe, and the most common causes are adrenal adenoma and adrenal hyperplasia. The importance of PA recognition arises from the fact that it can have a remarkably adverse cardiovascular and renal impact, which can even result in death. The aldosterone-to-renin ratio (ARR) is the election test for screening PA, and one of the confirmatory tests, such as oral sodium loading (OSL) or saline infusion test (SIT), is in general necessary to confirm the diagnosis...
August 28, 2017: Clinical Chemistry and Laboratory Medicine: CCLM
https://www.readbyqxmd.com/read/28835760/testicular-adrenal-rests-tumors-and-testicular-microlithiasis-in-a-brazilian-case-series-with-classic-congenital-adrenal-hyperplasia
#19
Laura Ohana Marques Coelho de Carvalho, Raymundo Miguel Garcia Lora, Claudia Renata Rezende Penna, Izabel Calland Ricarte Beserra
BACKGROUND: Testicular adrenal rest tumors are a benign condition characterized by the presence of remnants of adrenal tissue within the testes that can lead to infertility. Testicular microlithiasis are calculus deposits within the seminiferous tubules. Both are described in congenital adrenal hyperplasia. OBJECTIVES: Describe the frequency of testicular adrenal rest tumors and testicular microlithiasis in a Brazilian case series of patients with classic congenital adrenal hyperplasia and to also relate these changes to disease control and hypothalamic-pituitary-gonadal axis disorders...
January 2017: International Journal of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28821302/participation-of-adults-with-disorders-differences-of-sex-development-dsd-in-the-clinical-study-dsd-life-design-methodology-recruitment-data-quality-and-study-population
#20
Robert Röhle, Katharina Gehrmann, Maria Szarras-Czapnik, Hedi Claahsen-van der Grinten, Catherine Pienkowski, Claire Bouvattier, Peggy Cohen-Kettenis, Anna Nordenström, Ute Thyen, Birgit Köhler
BACKGROUND: dsd-LIFE is a comprehensive cross-sectional clinical outcome study of individuals with disorders/differences of sex development (DSD). This study focuses on various rare genetic conditions characterized by impaired gonadal or adrenal functionality. METHODS/DESIGN: The study aims to assess quality of life (QoL) as a measure of psychosocial adaptation, psychosexual and mental health aspects as major outcomes. Health status and functioning, medical and surgical therapies, participants' views on health care, psychological and social support, sociodemographic factors and their interrelations will be investigated as factors associated with the outcomes...
August 18, 2017: BMC Endocrine Disorders
keyword
keyword
84506
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"