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https://www.readbyqxmd.com/read/29342266/causes-patterns-and-severity-of-androgen-excess-in-1205-consecutively-recruited-women
#1
Yasir S Elhassan, Jan Idkowiak, Karen Smith, Miriam Asia, Helena Gleeson, Rachel Webster, Wiebke Arlt, Michael W O'Reilly
Context: Androgen excess in women is predominantly due to underlying polycystic ovary syndrome (PCOS). However there is a lack of clarity regarding patterns and severity of androgen excess that should be considered predictive of non-PCOS pathology. Objective: We examined the diagnostic utility of simultaneous measurement of serum dehydroepiandrosterone sulfate (DHEAS), androstenedione (A4) and testosterone (T) to delineate biochemical signatures and cut-offs predictive of non-PCOS disorders in women with androgen excess...
January 12, 2018: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29339528/gonadal-function-in-adult-male-patients-with-congenital-adrenal-hyperplasia
#2
Manon Engels, Katharina Gehrmann, Henrik Falhammar, Emma A Webb, Anna Nordenstrom, Fred Sweep, Paul N Span, Antonius Eduard van Herwaarden, Julia Rohayem, Annette Richter-Unruh, Claire Bouvattier, Birgit Koehler, Barbara B Kortmann, Wiebke Arlt, Nel Roeleveld, Nicole Reisch, Nike Stikkelbroeck, Hedi L Claahsen-van der Grinten
CONTEXT: Current knowledge on gonadal function in Congenital Adrenal Hyperplasia (CAH) is mostly limited to single center/country studies enrolling small patient numbers. Overall data indicate that gonadal function can be compromised in men with CAH. OBJECTIVE: To determine gonadal function in men with CAH within the European "dsd-LIFE" cohort. DESIGN: Cross-sectional clinical outcome study, including retrospective data from medical records...
January 16, 2018: European Journal of Endocrinology
https://www.readbyqxmd.com/read/29338844/sfe-sfedp-adrenal-insufficiency-french-consensus-introduction-and-handbook
#3
Yves Reznik, Pascal Barat, Jérôme Bertherat, Claire Bouvattier, Frédéric Castinetti, Olivier Chabre, Philippe Chanson, Christine Cortet, Brigitte Delemer, Bernard Goichot, Damien Gruson, Laurence Guignat, Emmanuelle Proust-Lemoine, Marie-Laure Raffin Sanson, Rachel Reynaud, Dinane Samara Boustani, Dominique Simon, Antoine Tabarin, Delphine Zenaty
The French endocrinology society (SFE) and the French pediatric endocrinology society (DFSDP) have drawn up recommendations for the management of primary and secondary adrenal insufficiency in the adult and child, based on an analysis of the literature by 19 experts in 6 work-groups. A diagnosis of adrenal insufficiency should be suspected in the presence of a number of non-specific symptoms except hyperpigmentation which is observed in primary adrenal insufficiency. Diagnosis rely on plasma cortisol and ACTH measurement at 8am and/or the cortisol increase after synacthen administration...
January 12, 2018: Annales D'endocrinologie
https://www.readbyqxmd.com/read/29338783/children-with-premature-pubarche-is-an-alterated-neonatal-17-ohp-screening-test-a-predictive-factor
#4
Paolo Cavarzere, Margherita Mauro, Monica Vincenzi, Silvana Lauriola, Francesca Teofoli, Rossella Gaudino, Diego Alberto Ramaroli, Rocco Micciolo, Marta Camilot, Franco Antoniazzi
BACKGROUND: Neonatal screening for 21 hydroxylase deficiency is designed to detect classical form of congenital adrenal hyperplasia (CAH). It is still unclear whether newborns who result false positives at neonatal screening might later develop signs of androgen excess. The aim of this study is to verify whether a slightly elevated 17-OHP at newborn screening is a predictive factor for premature pubarche. METHODS: We evaluated all infants born between 2001 and 2014 with premature pubarche...
January 16, 2018: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/29330019/parental-decisional-regret-and-views-about-optimal-timing-of-female-genital-restoration-surgery-in-congenital-adrenal-hyperplasia
#5
Konrad M Szymanski, Benjamin Whittam, Martin Kaefer, Heather Frady, Jessica T Casey, Vi T Tran, Mark P Cain, Richard C Rink
PURPOSE: The role of female genital restoration surgery (FGRS) in girls with congenital adrenal hyperplasia (CAH) is controversial, with no long-term parent-reported outcomes available. Decisional regret (DR) affects most parents after their children's treatment of pediatric conditions, including hypospadias. We aimed to assess parental DR after FGRS in infancy or toddlerhood and explore optimal timing for surgery. MATERIALS AND METHODS: One-hundred and six parents of females with CAH undergoing FGRS before 3 years old and followed at our institution (1999-2017) were invited to enroll online...
December 28, 2017: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/29330018/testicular-adrenal-rest-tumor-screening-and-fertility-counseling-among-males-with-congenital-adrenal-hyperplasia
#6
Monika Chaudhari, Emilie K Johnson, Daniel DaJusta, Leena Nahata
BACKGROUND: Reduced fertility is a common potential problem among males with congenital adrenal hyperplasia (CAH), with nearly half experiencing impaired sperm production. The major cause of oligo/azoospermia in CAH is testicular adrenal rest tumors (TARTs). Studies indicate that ultrasound screening for TARTs should begin during childhood, yet it remains unclear whether boys with CAH are routinely screened for TARTs and/or counseled about infertility risk and potential interventions such as fertility testing and/or preservation...
December 21, 2017: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/29328376/identification-of-a-novel-compound-heterozygous-mutation-of-the-cyp21a2-gene-causing-21%C3%A2-hydroxylase-deficiency-in-a-chinese-pedigree
#7
Jia Liu, Xiujuan Zhang, Haiqing Zhang, Li Fang, Jin Xu, Qingbo Guan, Chao Xu
21‑Hydroxylase deficiency (21‑OHD) is the most common cause of congenital adrenal hyperplasia. Inherited in an autosomal recessive manner, 21‑OHD is caused by mutations in the cytochrome P450 family 21 subfamily A member 2 (CYP21A2) gene. The present study was designed to investigate the genetic characteristics of one Chinese pedigree and to identify the genotype‑phenotype association, thereby facilitating the precise diagnosis of 21‑OHD at the molecular level. Members of a Chinese family with 21‑OHD were screened for mutations in the CYP21A2 gene...
January 8, 2018: Molecular Medicine Reports
https://www.readbyqxmd.com/read/29324451/aromatase-deficiency-due-to-a-homozygous-cyp19a1-mutation-in-a-46-xx-egyptian-patient-with-ambiguous-genitalia
#8
Inas Mazen, Ken McElreavey, Aya Elaidy, Alaa K Kamel, Mohamed S Abdel-Hamid
Aromatase deficiency (AD) is a very rare disorder resulting from mutations in the CYP19A1 gene encoding aromatase, a cytochrome P450 enzyme that plays a pivotal role in androgen conversion to estrogens. AD is inherited in an autosomal recessive trait, and to date only 35 cases have been described in the literature. Herein, we depict a new patient reared as a male, who presented at the age of 21 years with no palpable testis, hypoplastic scrotum, penis-like phallus (3 cm), and penoscrotal hypospadias. The patient was born to consanguineous parents, his karyotype was 46,XX, and SRY was negative...
January 12, 2018: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://www.readbyqxmd.com/read/29323690/premature-adrenarche
#9
Laura Novello, Phyllis W Speiser
Adrenarche is when a child's adrenal cortex starts to secrete adrenal androgen precursors. Dehydroepiandrosterone (DHEA) is the most abundant product of the adrenal cortex, and is a weak androgen agonist thought to be responsible for the clinical signs of pubarche by conversion to more potent androgens, testosterone, and dihydrotestosterone. DHEA's extra-adrenal sulfation product, dehydroepiandrosterone sulfate, is a stable marker for adrenal androgenic activity. Pubarche is the physical manifestation of androgenic hormone production, and includes the development of pubic and axillary hair, adult body odor, and acne...
January 1, 2018: Pediatric Annals
https://www.readbyqxmd.com/read/29318470/gendered-peer-involvement-in-girls-with-congenital-adrenal-hyperplasia-effects-of-prenatal-androgens-gendered-activities-and-gender-cognitions
#10
Sheri A Berenbaum, Adriene M Beltz, Kristina Bryk, Susan McHale
A key question in understanding gender development concerns the origins of sex segregation. Children's tendencies to interact with same-sex others have been hypothesized to result from gender identity and cognitions, behavioral compatibility, and personal characteristics. We examined whether prenatal androgen exposure was related to time spent with boys and girls, and how that gendered peer involvement was related to sex-typed activities and gender identity and cognitions. We studied 54 girls with congenital adrenal hyperplasia (CAH) aged 10-13 years varying in degree of prenatal androgen exposure: 40 girls with classical CAH (C-CAH) exposed to high prenatal androgens and 14 girls with non-classical CAH (NC-CAH) exposed to low, female-typical, prenatal androgens...
January 9, 2018: Archives of Sexual Behavior
https://www.readbyqxmd.com/read/29316814/biology-of-the-adrenal-gland-cortex-obviates-effective-use-of-adeno-associated-virus-vectors-to-treat-hereditary-adrenal-disorders
#11
Sandra Markmann, Bishnu P De, Jasmine Reid, Clarisse Jose, Jonathan B Rosenberg, Philip Leopold, Stephen M Kaminsky, Dolan Sondhi, Odelya E Pagovich, Ronald G Crystal
Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder occurring in 1:10,000-1:20,000 live births. In >95% of the cases, CAH results from mutations in the CYP21A2 gene, encoding the adrenal steroid enzyme 21-hydroxylase (21OH). Cardinal phenotypic features of CAH include genital ambiguity and sexual precocity, and in severe cases, neonatal salt loss and death. Current standard of care consists of life-long oral steroid replacement to reverse the cortisol deficiency. Although significant advances in the treatment of CAH have been made, the burden of a life-long therapeutic intervention is not ideal for quality of life...
January 9, 2018: Human Gene Therapy
https://www.readbyqxmd.com/read/29315709/successful-fertility-outcome-in-a-woman-with-17%C3%A9-hydroxylase-deficiency
#12
Henrik Falhammar
17ɑ-hydroxylase deficiency (17OHD) is a rare variant of congenital adrenal hyperplasia (CAH) due to mutations in the CYP17A1 gene.1, 2 This gene encodes an enzyme that expresses both 17α-hydroxylase and 17,20-lyase activities affecting both adrenal and gonadal sex steroid production.1 Due to the location of the enzyme in the steroidogenic pathway impairment results in elevated corticosterone, deoxycorticosterone and progesterone together with low levels of cortisol, 11-deoxycortisol, dehydroepiandrosterone sulphate (DHEAS) and 17-hydroxyprogesterone...
January 6, 2018: Clinical Endocrinology
https://www.readbyqxmd.com/read/29315077/improved-medical-alert-id-ownership-and-utilization-in-youth-with-congenital-adrenal-hyperplasia-following-a-parent-educational-intervention
#13
Alaina P Vidmar, Jonathan F Weber, Christina M Koppin, Roshanak Monzavi, Mimi S Kim
BACKGROUND: Classical congenital adrenal hyperplasia (CAH) is a potentially life-threatening condition, and adrenal crisis is a major cause of morbidity and mortality in affected children. Medical-alert identification (ID) could prevent complications of adrenal crisis by identifying the need for time-sensitive, critical treatment. Our objectives were to evaluate usage of medical-alert IDs by CAH youth, ownership and awareness of IDs amongst their parents, and the effect of an in-clinic educational intervention on ID utilization...
January 9, 2018: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/29280740/latest-insights-on-the-etiology-and-management-of-primary-adrenal-insufficiency-in-children
#14
Tülay Güran
Primary adrenal insufficiency (PAI) is a heterogeneous group of clinical and genetic disorders characterized by an impaired production of cortisol and other steroid hormones by the adrenal cortex. Most of the causes of PAI in childhood are inherited and monogenic in origin and are associated with significant morbidity and mortality whenever the diagnosis and treatment is delayed. Therefore, early and accurate diagnosis would allow appropriate management for the patients and more accurate genetic counseling for the family...
December 27, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/29279458/whole-genome-sequencing-revealed-armadillo-repeat-containing-5-armc5-mutation-in-a-chinese-family-with-acth-independent-macronodular-adrenal-hyperplasia
#15
Qian Zhang, Liang Cui, Jiang-Ping Gao, Wen-Hua Yan, Nan Jin, Kang Chen, Li Zang, Jin Du, Xian-Ling Wang, Qing-Hua Guo, Guo-Qing Yang, Li-Juan Yang, Jian-Ming Ba, Wei-Jun Gu, Zhao-Hui Lv, Jing-Tao Dou, Yi-Ming Mu, Ju-Ming Lu
Primary macronodular adrenal hyperplasia (PMAH), also known in the past as bilateral macronodular adrenalhyperplasia or adrenocorticotropin (ACTH)-independent macronodular adrenal hyperplasia, is a rare type of Cushing's syndrome (CS) and is associated with bilateralenlargement of the adrenal glands. It accounts for <1% of all endogenous cases of CS. In order toidentify the pathogenic mutations in the causative gene of (AIMAH pedigrees, Whole-genome sequencing of three patients in family I was used to retrieve candidate causative genes...
December 27, 2017: Endocrine Journal
https://www.readbyqxmd.com/read/29277707/the-in-vitro-metabolism-of-11%C3%AE-hydroxyprogesterone-and-11-ketoprogesterone-to-11-ketodihydrotestosterone-in-the-backdoor-pathway
#16
Desmaré van Rooyen, Rachelle Gent, Lise Barnard, Amanda C Swart
Increased circulating 11β-hydroxyprogesterone (11OHP4), biosynthesised in the human adrenal, is associated with 21-hydroxylase deficiency in congenital adrenal hyperplasia. 17α-hydroxyprogesterone levels are also increased, with the steroid's metabolism to dihydrotestosterone in the backdoor pathway contributing to hyperandrogenic clinical conditions. In this study we investigated the in vitro biosynthesis and downstream metabolism of 11OHP4. Both cytochrome P450 11β-hydroxylase and aldosterone synthase catalyse the biosynthesis of 11OHP4 from progesterone (P4) which is converted to 11-ketoprogesterone (11KP4) by 11β-hydroxysteroid dehydrogenase type 2, while type 1 readily catalysed the reverse reaction...
December 23, 2017: Journal of Steroid Biochemistry and Molecular Biology
https://www.readbyqxmd.com/read/29277706/androgen-excess-is-due-to-elevated-11-oxygenated-androgens-in-treated-children-with-congenital-adrenal-hyperplasia
#17
Clemens Kamrath, Lisa Wettstaedt, Claudia Boettcher, Michaela F Hartmann, Stefan A Wudy
Adrenal androgen excess is the hallmark of classic congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency. Recently, 11-oxygenated C19 steroids, a class of highly active adrenal-derived androgens, have been described in patients with CAH. The aim of our study was to elucidate the significance of 11-oxygenated androgens in children with CAH. We retrospectively analysed 190 daily urinary excretion rates of glucocorticoid-, 17α-hydroxyprogesterone (17OHP)-, and androgen metabolites determined by gas chromatography-mass spectrometry of 99 children aged 3...
December 23, 2017: Journal of Steroid Biochemistry and Molecular Biology
https://www.readbyqxmd.com/read/29275380/double-hit-a-unique-case-of-resistant-hypertension
#18
Kristen Elizabeth DeCarlo, Nidhi Agrawal
A middle-aged woman with obesity, hyperlipidaemia and diet-controlled diabetes was referred for resistant hypertension. Her blood pressure (BP) was uncontrolled on five medications, including a diuretic. Physical exam revealed a systolic ejection murmur, and ECHO demonstrated moderate hypertrophy. Laboratory examination revealed elevated aldosterone level (20.7 ng/dL) and elevated aldosterone:renin ratio (41.4 (ng/dL)/(ng/mL/h)), meeting criteria for primary aldosteronism (PA), and confirmed by saline infusion testing...
December 22, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/29246515/complex-association-of-sex-hormones-on-left-ventricular-systolic-function-insight-into-sexual-dimorphism
#19
Joe-Elie Salem, Lee S Nguyen, Nadjib Hammoudi, Gisèle Preud'homme, Jean-Sebastien Hulot, Monique Leban, Christian Funck-Brentano, Philippe Touraine, Richard Isnard, Anne Bachelot
BACKGROUND: Normal values of left ventricular ejection fraction (LVEF) and absolute values of global longitudinal strain (GLS) are lower in men than in women. Data concerning the association of sex hormone levels on these left ventricular systolic function surrogates are scarce. The aim of this study was to determine the association of sex hormones with systolic left ventricular function in healthy subjects and patients with congenital adrenal hyperplasia (CAH) as a model of testosterone dysregulation...
December 13, 2017: Journal of the American Society of Echocardiography
https://www.readbyqxmd.com/read/29242557/the-metabolic-syndrome-associated-small-g-protein-arl15-plays-a-role-in-adipocyte-differentiation-and-adiponectin-secretion
#20
Nuno Rocha, Felicity Payne, Isabel Huang-Doran, Alison Sleigh, Katherine Fawcett, Claire Adams, Anna Stears, Vladimir Saudek, Stephen O'Rahilly, Inês Barroso, Robert K Semple
Common genetic variants at the ARL15 locus are associated with plasma adiponectin, insulin and HDL cholesterol concentrations, obesity, and coronary atherosclerosis. The ARL15 gene encodes a small GTP-binding protein whose function is currently unknown. In this study adipocyte-autonomous roles for ARL15 were investigated using conditional knockdown of Arl15 in murine 3T3-L1 (pre)adipocytes. Arl15 knockdown in differentiated adipocytes impaired adiponectin secretion but not adipsin secretion or insulin action, while in preadipocytes it impaired adipogenesis...
December 14, 2017: Scientific Reports
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