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https://www.readbyqxmd.com/read/27917104/thirty-eight-year-follow-up-of-two-sibling-lipoid-congenital-adrenal-hyperplasia-patients-due-to-homozygous-steroidogenic-acute-regulatory-stard1-protein-mutation-molecular-structure-and-modeling-of-the-stard1-l275p-mutation
#1
Khalil Khoury, Elie Barbar, Youssef Ainmelk, Annie Ouellet, Pierre Lavigne, Jean-Guy LeHoux
Objective: Review the impact of StAR (STARD1) mutations on steroidogenesis and fertility in LCAH patients. Examine the endocrine mechanisms underlying the pathology of the disorder and the appropriate therapy for promoting fertility and pregnancies. Design: Published data in the literature and a detailed 38-year follow-up of two sibling LCAH patients. Molecular structure and modeling of the STARD1 L275P mutation. Setting: University hospital. Patients: Patient A (46,XY female phenotype) and patient B (46,XX female) with LCAH bearing the L275P mutation in STARD1...
2016: Frontiers in Neuroscience
https://www.readbyqxmd.com/read/27906551/ald1613-a-novel-long-acting-monoclonal-antibody-to-control-acth-driven-pharmacology
#2
Andrew L Feldhaus, Katie Anderson, Benjamin Dutzar, Ethan Ojala, Patricia Dianne McNeill, Pei Fan, Jenny Mulligan, Sam Marzolf, Charlie Karasek, Michelle Scalley-Kim, Erica Stewart, Jens Billgren, Vanessa Rubin, Kathleen Schneider, David Jurchen, Kathy Snow, Shaun Barnett, Barbara Bengtsson, Brian Baker, John A Latham, Dan Allison, Leon F Garcia-Martinez
ACTH is the primary regulator of adrenal glucocorticoid production. Elevated levels of ACTH play a critical role in disease progression in several indications including congenital adrenal hyperplasia and Cushing's disease. We have generated a specific, high affinity, neutralizing monoclonal antibody (ALD1613) to ACTH. In vitro, ALD1613 neutralizes ACTH-induced signaling via all five melanocortin receptors and inhibited ACTH-induced cAMP accumulation in a mouse adrenal cell line (Y1). ALD1613 administration to wild-type rats significantly reduced plasma corticosterone levels in a dose dependent manner...
December 1, 2016: Endocrinology
https://www.readbyqxmd.com/read/27905124/assessment-of-early-atherosclerosis-and-left-ventricular-dysfunction-in-children-with-21-hydroxylase-deficiency
#3
Rahmi Özdemir, Hüseyin Anil Korkmaz, Mehmet Küçük, Cem Karadeniz, Timur Meşe, Behzat Özkan
AIM: We analysed 25 children with 21-hydroxylase deficiency who received glucocorticoid and/or mineralocorticoid treatment for at least 12 months to determine the effects of the disease and its treatment on vascular structures and ventricular function. METHODS: Twenty-five patients with 21-hydroxylase-deficient congenital adrenal hyperplasia (CAH) and 25 control subjects were enrolled into this observational, cross-sectional study. The patients were investigated in terms of fasting blood glucose and insulin; fasting serum lipid profile; serum 17-hydroxyprogesterone; dehydroepiandrosterone sulphate; androstenedione; and adrenocorticotropic hormone...
November 7, 2016: Clinical Endocrinology
https://www.readbyqxmd.com/read/27901643/bilateral-testicular-tumors-resulting-in-recurrent-cushing-s-syndrome-after-bilateral-adrenalectomy
#4
Troy Puar, Manon Engels, Antonius E van Herwaarden, Fred C G J Sweep, Christina Hulsbergen-van de Kaa, Karin Kamphuis-van Ulzen, Vasileios Chortis, Wiebke Arlt, Nike Stikkelbroeck, Hedi L Claahsen-van der Grinten, Ad R M M Hermus
CONTEXT: Recurrence of hypercortisolism in patients after bilateral adrenalectomy for Cushing's disease is extremely rare. PATIENT: We present a rare case of a 27-year-old man who previously underwent bilateral adrenalectomy for Cushing's disease with complete clinical resolution. Cushingoid features recurred 12 years later, along with bilateral testicular enlargement. Hormonal tests confirmed ACTH-dependent Cushing's. Surgical resection of the testicular tumors led to clinical and biochemical remission...
November 30, 2016: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/27900477/the-influence-of-seasonality-and-manufacturer-kit-lot-changes-on-17%C3%AE-hydroxyprogesterone-measurements-and-referral-rates-of-congenital-adrenal-hyperplasia-in-newborns
#5
Melissa Pearce, Erin Dauerer, A Gregory DiRienzo, Michele Caggana, Norma P Tavakoli
: Newborn screening for congenital adrenal hyperplasia (CAH) is performed by measuring the concentration of 17α-hydroxyprogesterone (17-OHP) in dried blood spots. Unfortunately, the level of 17-OHP varies due to multiple factors, and therefore, the false positive rate for the test is a challenge. We analyzed screening data from 2007 to 2015 to determine the effect of seasonal changes and manufacturer kit lot changes on 17-OHP values and on numbers of infants referred. Data from screening 2...
November 29, 2016: European Journal of Pediatrics
https://www.readbyqxmd.com/read/27898585/growth-and-development-in-children-with-classic-congenital-adrenal-hyperplasia
#6
Walter Bonfig
PURPOSE OF REVIEW: Final height outcome in classic congenital adrenal hyperplasia (CAH) has been of interest for many years. With analysis of growth patterns and used glucocorticoid regimens, enhanced treatment strategies have been developed and are still under development. RECENT FINDINGS: Most of the current reports on final height outcome are confirmative of previous results. Final height data is still reported in cohorts that were diagnosed clinically and not by newborn screening...
November 24, 2016: Current Opinion in Endocrinology, Diabetes, and Obesity
https://www.readbyqxmd.com/read/27894345/ultrasonographic-features-of-adrenal-gland-lesions-in-dogs-can-aid-in-diagnosis
#7
Elena Pagani, Massimiliano Tursi, Chiara Lorenzi, Alberto Tarducci, Barbara Bruno, Enrico Corrado Borgogno Mondino, Renato Zanatta
BACKGROUND: Ultrasonography to visualize adrenal gland lesions and evaluate incidentally discovered adrenal masses in dogs has become more reliable with advances in imaging techniques. However, correlations between sonographic and histopathological changes have been elusive. The goal of our study was to investigate which ultrasound features of adrenal gland abnormalities could aid in discriminating between benign and malignant lesions. To this end, we compared diagnosis based on ultrasound appearance and histological findings and evaluated ultrasound criteria for predicting malignancy...
November 28, 2016: BMC Veterinary Research
https://www.readbyqxmd.com/read/27890570/the-spectrum-of-cyp21a2-mutations-in-congenital-adrenal-hyperplasia-in-an-indian-cohort
#8
Ragini Khajuria, Rama Walia, Anil Bhansali, Rajendra Prasad
Congenital Adrenal Hyperplasia (CAH) is a common autosomal recessive disorder of the adrenal steroidogenic pathway. The most common form of CAH is due to mutations in CYP21A2 gene. The incidence of mutations in the CYP21A2 gene and the genotype-phenotype correlations vary among different populations. Therefore, the aim of the study was to establish the spectrum of mutations and to evaluate genotype-phenotype correlation in Indian CAH population. Molecular defects were investigated in 110 alleles (55 patients) in the present study...
November 25, 2016: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/27889492/surgical-complications-following-early-genitourinary-reconstructive-surgery-for-congenital-adrenal-hyperplasia-interim-analysis-at-6-years
#9
Pankaj Dangle, Andy Lee, Rajeev Chaudhry, Francis X Schneck
OBJECTIVE: To review the intermediate to long-term surgical complications following feminizing reconstructive surgery for patients with congenital adrenal hyperplasia (CAH), at a single tertiary center. Genitourinary reconstructive surgery is pivotal for favorable cosmetic and functional outcome for patients with CAH. MATERIAL AND METHODS: We conducted a retrospective review identifying 26 patients from April 2003 to April 2015 who underwent genitourinary reconstructive surgeries...
November 23, 2016: Urology
https://www.readbyqxmd.com/read/27887913/prospective-assessment-of-cosmesis-before-and-after-genital-surgery
#10
N J Nokoff, B Palmer, A J Mullins, C E Aston, P Austin, L Baskin, K Bernabé, Y-M Chan, E Y Cheng, D A Diamond, A Fried, D Frimberger, D Galan, L Gonzalez, S Greenfield, T Kolon, B Kropp, Y Lakshmanan, S Meyer, T Meyer, L L Mullins, A Paradis, D Poppas, P Reddy, M Schulte, K J Scott Reyes, J M Swartz, C Wolfe-Christensen, E Yerkes, A B Wisniewski
INTRODUCTION: Little data exist about the surgical interventions taking place for children with disorders of sex development (DSD). Most studies that have evaluated cosmetic outcomes after genitoplasty have included retrospective ratings by a physician at a single center. OBJECTIVE: The present study aimed to: 1) describe frequency of sex assignment, and types of surgery performed in a cohort of patients with moderate-to-severe genital ambiguity; and 2) prospectively determine cosmesis ratings by parents and surgeons before and after genital surgery...
October 8, 2016: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/27878800/a-single-center-experience-of-the-implementation-of-adrenal-vein-sampling-procedure-impact-on-the-diagnostic-work-up-in-primary-aldosteronism
#11
Jacek Kądziela, Aleksander Prejbisz, Ilona Michałowska, Sylwia Kołodziejczyk-Kruk, Leo Schultze Kool, Marek Kabat, Hanna Janaszek-Sitkowska, Sadegh Toutounchi, Zbigniew Gałązka, Urszula Ambroziak, Tomasz Bednarczuk, Magdalena Januszewicz, Dorota Ptasińska-Wnuk, Michał Hoffmann, Andrzej Januszewicz, Adam Witkowski
BACKGROUND AND AIM: Primary aldosteronism (PA) is one of the most common causes of secondary hypertension. Adrenal vein sampling (AVS) remains a "gold standard" procedure in differentiation between unilateral (adenoma) and bilateral (hyperplasia) disease. We present our single-center experience in establishing and implementation of the AVS procedure. METHODS: All patients had primary aldosteronism confirmed in salt-infusion test. Adrenal vein sampling was performed sequentially during a continuous intravenous infusion of cosyntropin and was preceded by multislice contrast-enhanced computed tomography (CT) examination of adrenal glands performed few weeks before AVS in majority of patients...
November 23, 2016: Kardiologia Polska
https://www.readbyqxmd.com/read/27867895/gender-of-rearing-and-psychosocial-aspect-in-46-xx-congenital-adrenal-hyperplasia
#12
Arushi Gangaher, Viveka P Jyotsna, Vasundhera Chauhan, Jomimol John, Manju Mehta
BACKGROUND: In congenital adrenal hyperplasia (CAH) with ambiguous genitalia, assigning gender of rearing can be complex, especially If genitalia is highly virilized. Apart from karyotype, prenatal androgen exposure, patient's gender orientation, sociocultural, and parental influences play a role. The aim of this study was to assess gender dysphoria and psychosocial issues in patients of CAH raised as males and females. MATERIALS AND METHODS: This is a cross-sectional study that includes patients (old and new) with CAH who were treated by us in the last 6 months...
November 2016: Indian Journal of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/27864805/endocrine-hypertension-a-practical-approach
#13
REVIEW
Joseph M Pappachan, Harit N Buch
Elevated blood pressure resulting from few endocrine disorders (endocrine hypertension) accounts for a high proportion of cases of secondary hypertension. Although some features may be suggestive, many cases of endocrine hypertension remain silent until worked up for the disease. A majority of cases result from primary aldosteronism. Other conditions that can cause endocrine hypertension are: congenital adrenal hyperplasia, Liddle syndrome, pheochromocytomas, Cushing's syndrome, acromegaly, thyroid diseases, primary hyperparathyroidism and iatrogenic hormone manipulation...
November 19, 2016: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/27864317/prednisolone-is-associtaed-with-a-worse-lipid-profile-than-hydrocortisone-in-patients-with-adrenal-insufficiency
#14
Marcus Quinkler, Bertil Ekman, Claudio Marelli, Sharif Uddin, Pierre Zelissen, Robert Murray
OBJECTIVE: Prednisolone is used as glucocorticoid replacement therapy for adrenal insufficiency (AI). Recent data indicate that its use in AI is associated with low bone mineral density. Data on risk factors for cardiovascular disease in patients with AI treated with prednisolone are scarce, despite this condition being the predominant cause of excess mortality. We aimed to address this question using real-world data from the European Adrenal Insufficiency Registry (EU-AIR). DESIGN/METHODS: EU-AIR, comprising of 19 centres across Germany, the Netherlands, Sweden and the UK, commenced enrolling patients with AI in August 2012...
November 18, 2016: Endocrine Connections
https://www.readbyqxmd.com/read/27856173/fertility-in-disorders-of-sex-development-a-review
#15
REVIEW
J P Van Batavia, T F Kolon
INTRODUCTION: Disorders of sex development (DSD) are a heterogeneous group of complex conditions that can affect chromosomal, gonadal, and/or phenotypical sex. In addition to impacts on internal and external genitalia,these conditions can affect fertility potentialto various degrees. In this review we discuss fertility issues including gonadalpreservation and reproductive outcomes based on specific DSD conditions. METHODS AND MATERIALS: A systematic literature review was performed on Embase(™), PubMed(®), and Google Scholar(™) for disordersof sex development and infertility...
November 3, 2016: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/27855232/novel-scc-mutation-in-a-patient-of-mexican-descent-with-sex-reversal-salt-losing-crisis-and-adrenal-failure
#16
Jasmeet Kaur, Alan M Rice, Elizabeth O'Connor, Anil Piya, Bradley Buckler, Himangshu S Bose
: Congenital adrenal hyperplasia (CAH) is caused by mutations in cytochrome P450 side chain cleavage enzyme (CYP11A1 and old name, SCC). Errors in cholesterol side chain cleavage by the mitochondrial resident CYP11A1 results in an inadequate amount of pregnenolone production. This study was performed to evaluate the cause of salt-losing crisis and possible adrenal failure in a pediatric patient whose mother had a history of two previous stillbirths and loss of another baby within a week of birth...
2016: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/27853336/seventeen-alpha-hydroxylase-deficiency-associated-with-absent-gonads-and-myelolipoma-a-case-report-and-review-of-literature
#17
Mahmood Soveid, Ghanbar Ali Rais-Jalali
Congenital adrenal hyperplasia comprises a group of disorders resulting from defects in enzymes required for the synthesis of cortisol. The clinical presentation depends on the specific enzyme defect. We report a rare case of congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency. A 26-year-old female patient referred with hypertension and hypokalemia. She also had primary amenorrhea and lack of sexual development. The karyotype was 46, XY. Hormonal evaluation showed low serum levels of all steroid hormones, requiring alpha-hydroxylation, which included cortisol, 17 alpha-hydroxy progesterone, dehydroepiandrosterone sulfate, estradiol, and testosterone...
November 2016: Iranian Journal of Medical Sciences
https://www.readbyqxmd.com/read/27852974/growth-curves-for-congenital-adrenal-hyperplasia-from-a-national-retrospective-cohort
#18
Patricia Bretones, Benjamin Riche, Emmanuel Pichot, Michel David, Pascal Roy, Véronique Tardy, Behrouz Kassai, Ségolène Gaillard, Delphine Bernoux, Yves Morel, Pierre Chatelain, Marc Nicolino, Catherine Cornu
BACKGROUND: In congenital adrenal hyperplasia (CAH), adjusting hydrocortisone dose during childhood avoids reduced adult height. However, there are currently no CAH-specific charts to monitor growth during treatment. Our objective was to elaborate growth reference charts and bone maturation data for CAH patients. METHODS: We conducted a retrospective observational cohort study, in 34 French CAH centers. Patients were 496 children born 1970-1991 with genetically proven 21-hydroxylase deficiency...
December 1, 2016: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/27849625/cortisol-response-to-adrenocorticotropin-testing-in-non-classical-congenital-adrenal-hyperplasia-nccah
#19
Fotini-Heleni Karachaliou, Maria Kafetzi, Maria Dracopoulou, Elpis Vlachopapadopoulou, Sofia Leka, Aspasia Fotinou, Stefanos Michalacos
BACKGROUND: The adequacy of cortisol response in non-classical congenital adrenal hyperplasia (NCCAH) has not been fully elucidated. The aim was to evaluate cortisol response to adrenocorticotropin (ACTH) stimulation test in children and adolescents with NCCAH and heterozygotes for CYP21A2 gene mutations. METHODS: One hundred and forty-six children and adolescents, mean age 7.9 (0.7-17.5) years with clinical hyperandrogenism, were evaluated retrospectively. Thirty-one subjects had NCCAH, 30 were heterozygotes for CYP21A2 gene mutations, while 85 showed normal response to ACTH test...
December 1, 2016: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/27845856/modified-release-and-conventional-glucocorticoids-and-diurnal-androgen-excretion-in-congenital-adrenal-hyperplasia
#20
Christopher M Jones, Ashwini Mallappa, Nicole Reisch, Nikolaos Nikolaou, Nils Krone, Beverly A Hughes, Donna M O'Neil, Martin J Whitaker, Jeremy W Tomlinson, Karl-Heinz Storbeck, Deborah P Merke, Richard J Ross, Wiebke Arlt
CONTEXT: The classic androgen synthesis pathway proceeds via DHEA, androstenedione and testosterone to 5α-dihydrotestosterone (DHT). However, DHT synthesis can also be achieved by an alternative pathway originating from 17α-hydroxyprogesterone (17OHP), which accumulates in congenital adrenal hyperplasia (CAH). Similarly, recent work has highlighted androstenedione-derived 11-oxygenated 19-carbon steroids as active androgens and, in CAH, androstenedione is generated directly from 17OHP...
November 15, 2016: Journal of Clinical Endocrinology and Metabolism
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