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Adrenal function

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https://www.readbyqxmd.com/read/29343526/mutations-in-cyb561-causing-a-novel-orthostatic-hypotension-syndrome
#1
Maarten P van den Berg, Rowida Almomani, Italo Biaggioni, Martijn van Faassen, Pim van der Harst, Herman H Silljé, Irene Mateo Leach, Marc Hemmelder, Gerjan Navis, Gert-Jan Luijckx, Arjan P de Brouwer, Hanka Venselaar, Marcel M Verbeek, Paul A van der Zwaag, Jan D Jongbloed, J P van Tintelen, Ron A Wevers, Ido P Kema
Rationale: Orthostatic hypotension is a common clinical problem, but the underlying mechanisms have not been fully delineated. Objective: We describe two families, with four patients in total, suffering from severe life-threatening orthostatic hypotension due to a novel cause. Methods and Results: As in dopamine β-hydroxylase deficiency (DβH), concentrations of norepinephrine and epinephrine in the patients were very low. Plasma DβH activity, however, was normal and the DBH gene had no mutations. Molecular genetic analysis was performed to determine the underlying genetic cause...
January 17, 2018: Circulation Research
https://www.readbyqxmd.com/read/29341163/extent-of-surgery-for-phaeochromocytomas-in-the-genomic-era
#2
REVIEW
H M Rossitti, P Söderkvist, O Gimm
BACKGROUND: Germline mutations are present in 20-30 per cent of patients with phaeochromocytoma. For patients who develop bilateral disease, complete removal of both adrenal glands (total adrenalectomy) will result in lifelong adrenal insufficiency with an increased risk of death from adrenal crisis. Unilateral/bilateral adrenal-sparing surgery (subtotal adrenalectomy) offers preservation of cortical function and independence from steroids, but leaves the adrenal medulla in situ and thus at risk of developing new and possibly malignant disease...
January 2018: British Journal of Surgery
https://www.readbyqxmd.com/read/29339528/gonadal-function-in-adult-male-patients-with-congenital-adrenal-hyperplasia
#3
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/29338944/histological-and-morphofunctional-parameters-of-the-hypothalamic-pituitary-adrenal-system-are-sensitive-to-daidzein-treatment-in-the-adult-rat
#4
Svetlana Trifunović, Milica Manojlović-Stojanoski, Nataša Nestorović, Nataša Ristić, Branka Šošić-Jurjević, Lazo Pendovski, Verica Milošević
The isoflavone, daidzein is a biologically active, plant-derived compound that interacts with estrogen receptors. Data from previous studies have suggested that daidzein exerts beneficial effects in many diseases; however, as an endocrine disrupter, it may also alter the functioning of the endocrine system. Data regarding the effect of daidzein on the morphofunctional and histological parameters of the hypothalamic-pituitary-adrenal (HPA) system is still lacking. Therefore, using the newCAST stereological software, we investigated the effects of chronic (21 days) daidzein treatment on corticotropin-releasing hormone (CRH) neurons within the hypothalamus and corticotropes (ACTH cells) in the pituitary, while image analysis was employed to-examine the intensity of fluorescence of CRH in the median eminence (ME) and adrenocorticotropin hormone in the pituitary in adult orchidectomized (Ovx) rats...
January 12, 2018: Acta Histochemica
https://www.readbyqxmd.com/read/29338783/children-with-premature-pubarche-is-an-alterated-neonatal-17-ohp-screening-test-a-predictive-factor
#5
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/29334626/parenting-predicts-strange-situation-cortisol-reactivity-among-children-adopted-internationally
#6
Carrie E DePasquale, K Lee Raby, Julie Hoye, Mary Dozier
The functioning of the hypothalamic pituitary adrenal (HPA) axis can be altered by adverse early experiences. Recent studies indicate that children who were adopted internationally after experiencing early institutional rearing and unstable caregiving exhibit blunted HPA reactivity to stressful situations. The present study examined whether caregiving experiences post-adoption further modulate children's HPA responses to stress. Parental sensitivity during naturalistic parent-child play interactions was assessed for 66 children (M age = 17...
January 4, 2018: Psychoneuroendocrinology
https://www.readbyqxmd.com/read/29331929/sex-related-differential-response-to-dexamethasone-in-endocrine-and-immune-measures-in-depressed-in-patients-and-healthy-controls
#7
Carina Rampp, Andreas Eichelkraut, Johanna Best, Darina Czamara, Monika Rex-Haffner, Manfred Uhr, Elisabeth B Binder, Andreas Menke
Although sex differences in major depression have been reported repeatedly, the underlying mechanisms are still disputed. The rapidly changing gonadal steroid concentrations of the postpartum period or during menopause have been shown to be associated with depressive symptoms and to modulate the hypothalamic-pituitary-adrenal (HPA)-axis, which is implicated in depression. The sample comprised of 128 depressed in-patients (36.7% women) and 166 healthy controls (30.0% women). Blood was collected at baseline (at 6pm) and then 3 h as well as 21 h after ingestion of 1...
January 3, 2018: Journal of Psychiatric Research
https://www.readbyqxmd.com/read/29330170/retrospective-review-of-synacthen-testing-in-infants
#8
Timothy Shao Ern Tan, Claire Manfredonia, Rakesh Kumar, Julie Jones, Elaine O'Shea, Raja Padidela, Mars Skae, Sarah Ehtisham, Fiona Ivison, Lesley Tetlow, Peter E Clayton, Indraneel Banerjee, Leena Patel
BACKGROUND: A subnormal cortisol response (30 min level (C30min)<550 nmol/L) to synthetic adrenocorticotrophic hormone/Synacthen test (SDST) in all infants does not necessarily indicate underlying or persistent hypothalamic-pituitary-adrenal axis pathology. METHODS: We retrospectively evaluated the diagnoses and outcomes in 68 infants who had a SDST at age <6 months from 2011 to 2014. RESULTS: 29 (43%) infants had a subnormal SDST...
January 12, 2018: Archives of Disease in Childhood
https://www.readbyqxmd.com/read/29330019/parental-decisional-regret-and-views-about-optimal-timing-of-female-genital-restoration-surgery-in-congenital-adrenal-hyperplasia
#9
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
#10
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/29329057/chronic-corticosterone-induced-depression-mediates-premature-aging-in-rats
#11
Xiaoxian Xie, Qichen Shen, Lingyan Ma, Yangyang Chen, Binggong Zhao, Zhengwei Fu
BACKGROUND: Stress hormones such as corticosterone (CORT) play an essential role in the development of depression. Chronic CORT administration has been shown to induce dysfunction in the hypothalamic-pituitary-adrenal axis leading to depression, which was in turn associated with accelerated aging. However, the effect of CORT administration on aging remains unclear. METHODS: Rats were acclimatized for 1 week and then injected daily with CORT (40mg/kg) or vehicle (n = 10 each) for 21 consecutive days...
January 2, 2018: Journal of Affective Disorders
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
#12
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/29327532/adrenal-oncocytoma-a-rare-functional-tumor-presenting-as-cushing-syndrome
#13
Hozefa Runderawala, Samrat Shah, Abizer Manked
Adrenal oncocytoma is very rare pathological variant of adrenal neoplasm. These are usually large and non-functional; however, rarely functional adrenal oncocytomas are also presented as Cushing's syndrome and pheochromocytoma. We report a case of adrenal oncocytoma in 38 year old female presented with symptoms of Cushing Syndrome.
December 2017: Journal of the Association of Physicians of India
https://www.readbyqxmd.com/read/29325527/single-center-experience-with-laparoscopic-adrenalectomy-on-a-large-clinical-series
#14
Giovanni Conzo, Claudio Gambardella, Giancarlo Candela, Alessandro Sanguinetti, Andrea Polistena, Guglielmo Clarizia, Renato Patrone, Francesco Di Capua, Chiara Offi, Mario Musella, Sergio Iorio, Giseppe Bellastella, Daniela Pasquali, Annamaria De Bellis, Antonio Sinisi, Nicola Avenia
BACKGROUND: Laparoscopic adrenalectomy is considered the gold standard technique for the treatment of benign small and medium size adrenal masses (<6 cm), due to low morbidity rate, short hospitalization and patient rapid recovery. The aim of our study is to analyse the feasibility and efficiency of this surgical approach in a broad spectrum of adrenal gland pathologies. METHODS: Pre-operative, intra-operative and post-operative data from 126 patients undergone laparoscopic adrenalectomy between January 2003 and December 2015 were retrospectively collected and reviewed...
January 11, 2018: BMC Surgery
https://www.readbyqxmd.com/read/29323690/premature-adrenarche
#15
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/29323260/dietary-fatty-acids-sex-specifically-modulate-guinea-pig-postnatal-development-via-cortisol-concentrations
#16
Matthias Nemeth, Eva Millesi, Daniela Schuster, Ruth Quint, Karl-Heinz Wagner, Bernard Wallner
Early ontogenetic periods and postnatal maturation in organisms are sex-specifically sensitive to hypothalamic-pituitary-adrenal (HPA)-axis activities, related glucocorticoid secretions, and their effects on energy balance and homeostasis. Dietary polyunsaturated (PUFAs) and saturated (SFAs) fatty acids potentially play a major role in this context because PUFAs positively affect HPA-axis functions and a shift towards SFAs may impair body homeostasis. Here we show that dietary PUFAs positively affect postnatal body mass gain and diminish negative glucocorticoid-effects on structural growth rates in male guinea pigs...
January 11, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29317066/an-exploration-of-the-hypothesis-that-testosterone-is-implicated-in-the-psychological-functioning-of-women-with-polycystic-ovary-syndrome-pcos
#17
J A Barry, F Qu, P J Hardiman
One of the diagnostic features of polycystic ovary syndrome (PCOS) is elevation of the androgen, testosterone. It is known that women with PCOS are more likely to suffer from psychological problems, especially anxiety and depression, than other women. However, little is known of how much of this is due to testosterone, and if so, what the mechanism(s) might be. This study explores the hypothesis that testosterone impacts women with PCOS both directly and indirectly, via testosterone currently in the bloodstream and through prenatal exposure...
January 2018: Medical Hypotheses
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
#18
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/29313284/endocrinological-aspects-of-hiv-infection
#19
REVIEW
F S Mirza, P Luthra, L Chirch
PURPOSE: Patients with human immunodeficiency virus (HIV) are living longer with effective antiretroviral therapies and are enjoying near normal life span. Therefore, they are encountering endocrine issues faced by the general population along with those specific to HIV infection. The purpose of this article is to review the common endocrine aspects of HIV infection, and the early detection and management strategies for these complications. METHODS: Recent literature on HIV and endocrine disease was reviewed...
January 8, 2018: Journal of Endocrinological Investigation
https://www.readbyqxmd.com/read/29310349/adrenocortical-oncocytoma-11-case-reports-and-review-of-the-literature
#20
Yazhao Hong, Yuanyuan Hao, Jinghai Hu, Bo Xu, Hongli Shan, Xiaoqing Wang
RATIONALE: Adrenocortical oncocytoma is an extremely rare tumor of the adrenal gland. Its diagnostic criteria and biological behavior has not yet reached a consensus. The purpose of this study is to investigate the clinical characteristics of adrenocortical oncocytoma. PATIENT CONCERNS: The clinical data from 11 cases of adrenocortical oncocytoma were retrospectively analyzed. Five patients found the tumor incidentally during the healthy examination, and 3 cases found the tumor during the diagnostic work-up for the evaluation of flank pain or hypertension...
December 2017: Medicine (Baltimore)
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