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"Congenital Adrenal Hyperplasia"

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https://www.readbyqxmd.com/read/29430117/trails-on-18-f-fluorodeoxyglucose-positron-emission-tomography-computed-tomography-leading-to-diagnosis-of-testicular-adrenal-rest-tumor
#1
Raghava Kashyap
Testicular adrenal rest tumors (TARTs) are secondary to hypertrophy of adrenal rest cells in the rete testis in settings of hypersecretion of androgens. We present a case of congenital adrenal hyperplasia with TART with clues to the diagnosis on 18 F-fluorodeoxyglucose positron emission tomography/computed tomography ( 18 F-FDG PET/CT). To the best of our knowledge, this is the first reported case on the role of 18 F-FDG PET/CT in TART.
January 2018: Indian Journal of Nuclear Medicine: IJNM: the Official Journal of the Society of Nuclear Medicine, India
https://www.readbyqxmd.com/read/29429446/congenital-adrenal-hyperplasia-due-to-21-hydroxylase-deficiency-in-south-africa
#2
Y Ganie, C Aldous, Y Balakrishna, R Wiersma
BACKGROUND: Congenital adrenal hyperplasia (CAH) caused by deficiency of the 21-hydoxylase (21-OH) enzyme is the most common form of CAH worldwide. OBJECTIVE: To evaluate the prevalence of CAH due to 21-OH deficiency, and its clinical presentation and biochemical profiles in affected children. METHODS: We performed a retrospective subset analysis of 44 children with confirmed CAH. RESULTS: All the children had classic CAH...
February 1, 2018: South African Medical Journal, Suid-Afrikaanse Tydskrif Vir Geneeskunde
https://www.readbyqxmd.com/read/29429410/the-human-fetal-adrenal-produces-cortisol-but-no-detectable-aldosterone-throughout-the-second-trimester
#3
Zoe C Johnston, Michelle Bellingham, Panagiotis Filis, Ugo Soffientini, Denise Hough, Siladitya Bhattacharya, Marc Simard, Geoffrey L Hammond, Peter King, Peter J O'Shaughnessy, Paul A Fowler
BACKGROUND: Human fetal adrenal glands are highly active and, with the placenta, regulate circulating progesterone, estrogen and corticosteroids in the fetus. At birth the adrenals are essential for neonate salt retention through secretion of aldosterone, while adequate glucocorticoids are required to prevent adrenal insufficiency. The objective of this study was to carry out the first comprehensive analysis of adrenal steroid levels and steroidogenic enzyme expression in normal second trimester human fetuses...
February 12, 2018: BMC Medicine
https://www.readbyqxmd.com/read/29429350/-steroid-21-hydroxylase-deficiency-the-most-frequent-cause-of-congenital-adrenal-hyperplasia
#4
Márton Doleschall, Dóra Török, Katalin Mészáros, Andrea Luczay, Zita Halász, Krisztina Németh, Nikolette Szücs, Róbert Kiss, Judit Tőke, János Sólyom, György Fekete, Attila Patócs, Péter Igaz, Miklós Tóth
Congenital adrenal hyperplasia is a group of genetic diseases due to the disablement of 7 genes; one of them is steroid 21-hydroxylase deficiency. The genes of congenital adrenal hyperplasia encode enzymes taking part in the steroidogenesis of adrenal gland. Steroid 21-hydroxylase deficiency is an autosomal recessive disorder caused by mutations of the steroid 21-hydroxylase gene. The mutations of steroid 21-hydroxylase gene cause 95% of the congenital adrenal hyperplasia cases. Although the non-classic steroid 21-hydroxylase deficiency with mild symptoms is seldom diagnosed, the classic steroid 21-hydroxylase deficiency may lead to life-threatening salt-wasting and adrenal crises due to the insufficient aldosterone and cortisol serum levels...
February 2018: Orvosi Hetilap
https://www.readbyqxmd.com/read/29428284/cell-free-dna-screening-for-single-gene-disorders-and-determination-of-fetal-rhesus-d-genotype
#5
REVIEW
Kristin D Gerson, Barbara M O'Brien
The use of cell-free DNA (cfDNA) for screening and diagnosis of single-gene disorders is an evolving technology, and its application at this time is limited. Invasive testing is currently recommended for the diagnosis of single-gene disorders. The limitations of cfDNA technology are most notable in clinical settings involving X-linked and autosomal recessive conditions, in part because maternal mutant alleles greatly outnumber those of fetal origin. Examples of single-gene disorders for which cfDNA has been used include skeletal dyplasias, cystic fibrosis, congenital adrenal hyperplasia, β-thalassemia, and muscular dystrophies...
March 2018: Obstetrics and Gynecology Clinics of North America
https://www.readbyqxmd.com/read/29420188/human-3beta-hydroxysteroid-dehydrogenase-deficiency-associated-with-normal-spermatic-numeration-despite-a-severe-enzyme-deficit
#6
Bruno Donadille, Muriel Houang, Irene Netchine, Jean-Pierre Siffroi, Sophie Christin-Maitre
Human 3 beta-hydroxysteroid dehydrogenase deficiency (3b-HSD) is a very rare form of congenital adrenal hyperplasia resulting from HSD3B2 gene mutations. Its estimated prevalence is less than 1/1,000,000 male neonates. It leads to steroidogenesis impairment in both adrenals and gonads. Few data are available on adult testicular function in such patients. Therefore, we evaluated gonadal axis and testicular function in a 46,XY adult patient, carrying a HSD3B2 mutation. The patient presented at birth with neonatal salt wasting syndrome, a micropenis, perineal hypospadias and intrascrotal testes...
February 2, 2018: Endocrine Connections
https://www.readbyqxmd.com/read/29419855/-clinical-report-of-testicular-hypoplasia-combined-with-21-hydroxylase-deficiency
#7
Bo Jiang, Dingyuan Ma, Huanhuan Chen, Xiaoyu Yang, Yugui Cui, Zhengfeng Xu, Jiayin Liu
OBJECTIVE To investigate the correlation of 21-hydroxylase deficiency (21-OHD) with male testicular dysplasia. METHODS Clinical data of 8 infertile males with congenital adrenal hyperplasia due to 21-OHD was retrospectively analyzed. In addition, potential mutations of the CYP21A2 gene was detected. RESULTS All patients were referred because of azoospermia or severe oligospermia and had small testis with averaged testicular volume of 6.1 mL. Three patients had testicular adrenal rest tumors. Endocrinologic examinations revealed low levels of leutinizing hormone and follicular stimulating hormone, normal or elevated testosterone, elevated progesterone, elevated or normal adrenocoticotropic hormone, and low or normal cortisol...
February 10, 2018: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/29412390/growth-hormone-deficiency-with-advanced-bone-age-phenotypic-interaction-between-ghrh-receptor-and-cyp21a2-mutations-diagnosed-by-sanger-and-whole-exome-sequencing
#8
Fernanda A Correa, Marcela M França, Qing Fang, Qianyi Ma, Tania A Bachega, Andresa Rodrigues, Bilge A Ozel, Jun Z Li, Berenice B Mendonca, Alexander A L Jorge, Luciani R Carvalho, Sally A Camper, Ivo J P Arnhold
Isolated growth hormone deficiency (IGHD) is the most common pituitary hormone deficiency and, clinically, patients have delayed bone age. High sequence similarity between CYP21A2 gene and CYP21A1P pseudogene poses difficulties for exome sequencing interpretation. A 7.5 year-old boy born to second-degree cousins presented with severe short stature (height SDS -3.7) and bone age of 6 years. Clonidine and combined pituitary stimulation tests revealed GH deficiency. Pituitary MRI was normal. The patient was successfully treated with rGH...
December 2017: Archives of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29410007/evaluation-of-behavioral-problems-after-prenatal-dexamethasone-treatment-in-swedish-children-and-adolescents-at-risk-of-congenital-adrenal-hyperplasia
#9
Lena Wallensteen, Leif Karlsson, Valeria Messina, Anton Gezelius, Malin Thomsen Sandberg, Anna Nordenström, Tatja Hirvikoski, Svetlana Lajic
Prenatal dexamethasone (DEX) treatment in congenital adrenal hyperplasia (CAH) is effective in reducing virilization in affected girls, but potential long-term adverse effects are largely unknown. In this report we intended to explore potential side effects of DEX therapy to enhance the adequacy of future risk benefit analyses of DEX treatment. We investigated the long-term effects of first trimester prenatal DEX treatment on behavioral problems and temperament in children and adolescents aged 7-17 years...
February 6, 2018: Hormones and Behavior
https://www.readbyqxmd.com/read/29398588/preliminary-report-surgical-outcomes-following-genitoplasty-in-children-with-moderate-to-severe-genital-atypia
#10
K J Bernabé, N J Nokoff, D Galan, D Felsen, C E Aston, P Austin, L Baskin, Y-M Chan, E Y Cheng, D A Diamond, R Ellens, A Fried, S Greenfield, T Kolon, B Kropp, Y Lakshmanan, S Meyer, T Meyer, A M Delozier, L L Mullins, B Palmer, A Paradis, P Reddy, K J Scott Reyes, M Schulte, J M Swartz, E Yerkes, C Wolfe-Christensen, A B Wisniewski, D P Poppas
INTRODUCTION: Prior studies of outcomes following genitoplasty have reported high rates of surgical complications among children with atypical genitalia. Few studies have prospectively assessed outcomes after contemporary surgical approaches. OBJECTIVE: The current study reported the occurrence of early postoperative complications and of cosmetic outcomes (as rated by surgeons and parents) at 12 months following contemporary genitoplasty procedures in children born with atypical genitalia...
February 1, 2018: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/29398092/prenatal-testosterone-and-theory-of-mind-development-findings-from-disorders-of-sex-development
#11
Behzad S Khorashad, Behnaz Khazai, Ghasem M Roshan, Mehran Hiradfar, Mozhgan Afkhamizadeh, Tim C van de Grift
Women on average perform better than men on the "Reading the Mind in the Eyes" test (RMET) which is a measure of Theory of Mind (ToM). The aim of this study was to assess whether these sex differences are influenced by differences in prenatal testosterone levels through a study on individuals with Disorders of Sex Development and matched controls. ToM performance was examined using the RMET in female-assigned-at-birth individuals with increased prenatal testosterone exposure (Congenital Adrenal Hyperplasia (CAH) and 5-alpha Reductase type-2 Deficiency (5α-RD-2)), female-assigned-at-birth individuals with testosterone insensitivity (Complete Androgen Insensitivity Syndrome (CAIS)), and their age-matched unaffected male and female relatives...
December 14, 2017: Psychoneuroendocrinology
https://www.readbyqxmd.com/read/29386228/disorders-of-sex-development-a-study-of-194-cases
#12
Rama Walia, Mandeep Singla, Kim Vaiphei, Santosh Kumar, Anil Bhansali
OBJECTIVE: To study the clinical profile and the management of patients with disorders of sex development (DSD). DESIGN AND SETTING: Retrospective study from a tertiary care hospital of North India. METHODS AND PATIENTS: One hundred ninety four patients of DSD registered in the Endocrine clinic of Postgraduate Institute of Medical Education and Research, Chandigarh between 1995 and 2014 were included. RESULTS: One hundred and two patients (52...
January 31, 2018: Endocrine Connections
https://www.readbyqxmd.com/read/29386111/modeling-congenital-adrenal-hyperplasia-and-testing-interventions-for-adrenal-insufficiency-using-donor-specific-reprogrammed-cells
#13
Gerard Ruiz-Babot, Mariya Balyura, Irene Hadjidemetriou, Sharon J Ajodha, David R Taylor, Lea Ghataore, Norman F Taylor, Undine Schubert, Christian G Ziegler, Helen L Storr, Maralyn R Druce, Evelien F Gevers, William M Drake, Umasuthan Srirangalingam, Gerard S Conway, Peter J King, Louise A Metherell, Stefan R Bornstein, Leonardo Guasti
Adrenal insufficiency is managed by hormone replacement therapy, which is far from optimal; the ability to generate functional steroidogenic cells would offer a unique opportunity for a curative approach to restoring the complex feedback regulation of the hypothalamic-pituitary-adrenal axis. Here, we generated human induced steroidogenic cells (hiSCs) from fibroblasts, blood-, and urine-derived cells through forced expression of steroidogenic factor-1 and activation of the PKA and LHRH pathways. hiSCs had ultrastructural features resembling steroid-secreting cells, expressed steroidogenic enzymes, and secreted steroid hormones in response to stimuli...
January 30, 2018: Cell Reports
https://www.readbyqxmd.com/read/29373482/rare-monogenic-causes-of-primary-adrenal-insufficiency
#14
Satoshi Narumi
PURPOSE OF REVIEW: Monogenic disorders play significant roles in the pathogenesis of childhood-onset primary adrenal insufficiency (PAI). The most common form of PAI is congenital adrenal hyperplasia (CAH), which includes the enzymatic defects of the steroidogenic pathway. This review focuses on less common forms of monogenic PAI (i.e. non-CAH monogenic PAI) with particular attention on their cause, clinical phenotypes and genetic epidemiology. RECENT FINDINGS: Non-CAH monogenic PAI can be classified into three major categories: first, adrenocorticotropic hormone resistance, second, impaired adrenal redox homeostasis and third, defective organogenesis of the adrenal glands...
January 25, 2018: Current Opinion in Endocrinology, Diabetes, and Obesity
https://www.readbyqxmd.com/read/29371828/two-cases-of-reversible-male-infertility-due-to-congenital-adrenal-hyperplasia-combined-with-testicular-adrenal-rest-tumor
#15
Mikito Tanaka, Noritoshi Enatsu, Koji Chiba, Masato Fujisawa
Cases: Testicular adrenal rest tumor (TART) is one of the possible causes of male infertility, accompanied by congenital adrenal hyperplasia (CAH). Here are reported two cases of TARTs that were referred to Kobe City Medical Center West Hospital for the treatment of infertility and testicular tumors. Outcome: In one case, the semen analysis was improved from oligoasthenozoospermia to normozoospermia after taking oral glucocorticoid supplementation. The other case of original azoospermia showed that sperm had ejaculated into the semen after taking oral glucocorticoid supplementation...
January 2018: Reproductive Medicine and Biology
https://www.readbyqxmd.com/read/29371334/poor-compliance-and-increased-mortality-depression-and-healthcare-costs-in-patients-with-congenital-adrenal-hyperplasia
#16
Sara Jenkins-Jones, Lotta Parviainen, John Porter, Mike Withe, Martin Whitaker, Sarah E Holden, Christopher Llewellyn Morgan, Craig Currie, Richard J Ross
Objectives To evaluate risks of depression and all-cause mortality, healthcare utilisation costs, and treatment adherence in congenital adrenal hyperplasia (CAH) in the UK. Design and Methods A retrospective, matched-cohort study using UK primary-care data from the Clinical Practice Research Datalink linked to hospital and death-certification data. Patients diagnosed with CAH and having ≥1 corticosteroid prescription were matched 1:10 to reference subjects. Risk of death and lifetime prevalence of depression were compared using Cox regression models...
January 25, 2018: European Journal of Endocrinology
https://www.readbyqxmd.com/read/29369603/circadian-blood-pressure-profiles-and-ambulatory-arterial-stiffness-index-in-children-and-adolescents-with-congenital-adrenal-hyperplasia-due-to-21-hydroxylase-deficiency-in-relation-to-their-genotypes
#17
(no author information available yet)
OBJECTIVE: Lifelong steroid therapy and exposure to adrenal androgen excess in 21-hydroxylase deficient (21-OHD) congenital adrenal hyperplasia (CAH) children and adolescents may modify circadian blood pressure profile and result in vascular complications. The objective of the study was to evaluate vascular abnormalities in 21-OHD children and adolescents in relation to their genotypes. DESIGN: A cross-sectional study conducted at a tertiary referral center. PATIENTS: Seventy patients with 21-OHD CAH (27 boys), aged from 3 to 17...
December 25, 2017: Neuro Endocrinology Letters
https://www.readbyqxmd.com/read/29345162/genetic-defect-of-a-combined-17-%C3%AE-hydroxylase-17-20-lyase-deficiency-patient-with-adrenal-crisis
#18
Yunqiang Zhang, Xuyin Zhang, Yiqun Wang, Keqin Hua, Jingxin Ding
Combined 17 α-hydroxylase/17,20-lyase deficiency (17OHD) is a rare autosomal recessive disease that is a type of congenital adrenal hyperplasia, which results in hypertension, hypokalemia, sexual infantilism, primary amenorrhea in females (46,XX), or pseudohermaphroditism in males (46,XY). It is mainly caused by mutation in the CYP17A1 gene, which encodes a key enzyme in the steroidogenic pathway. However, these patients rarely experience adrenal crisis, due to abnormally high corticosterone levels. Here, we report a 17OHD patient who experienced clinical adrenal crisis on day 1 after gonadectomy...
January 18, 2018: Gynecological Endocrinology
https://www.readbyqxmd.com/read/29342266/causes-patterns-and-severity-of-androgen-excess-in-1205-consecutively-recruited-women
#19
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
#20
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
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