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Congenital adrenal hyperplasia

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https://www.readbyqxmd.com/read/28089605/commentary-to-urinary-continence-outcome-following-vaginoplasty-in-patients-with-congenital-adrenal-hyperplasia
#1
David A Diamond
No abstract text is available yet for this article.
December 11, 2016: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/28073127/long-term-consequences-of-congenital-adrenal-hyperplasia-due-to-classic-21-hydroxylase-deficiency-in-adolescents-and-adults
#2
Ja Hye Kim, Jin-Ho Choi, Eungu Kang, Yoon-Myung Kim, Beom Hee Lee, Han-Wook Yoo
Background The management of congenital adrenal hyperplasia (CAH) from pediatric to adulthood is challenging to achieve optimal growth and puberty. This study characterizes the clinical outcomes of 21-hydroxylase deficiency. Methods 53 CAH patients were included (33 females, 15 and 18 patients with the salt-wasting [SW] and simple-virilizing [SV] forms; and 20 males, 16 and 4 patients with the SW and SV forms). We reviewed growth parameters, pubertal status, and long-term morbidities. Results In females, the age at pubertal onset and pubarche was 9...
January 10, 2017: Experimental and Clinical Endocrinology & Diabetes
https://www.readbyqxmd.com/read/28057157/-clinical-features-and-outcomes-of-congenital-adrenal-hyperplasia-with-adenomatoid-adrenal-gland
#3
Y L Gu, W J Gu, J T Dou, L Zang, J Du, G Q Yang, L J Yang, J M Ba, Z H Lü, Y M Mu, J M Lu
Objective: To analyze the clinical features and outcomes of congenital adrenal hyperplasia (CAH) with adenomatoid adrenal gland. Methods: Nineteen patients clinically confirmed as CAH with adenomatoid adrenal gland, from 2008 to 2015 in Deparment of Endocrinology of Chinese PLA General Hospital, were retrospectively analyzed, and the outcomes of the treatment were followed up. Results: Seventy-six patients were clinically confirmed as CAH, from 2008 to 2015 in PLA hospital. Nineteen of them have accompanied with adenomatoid adrenal gland...
December 27, 2016: Zhonghua Yi Xue za Zhi [Chinese medical journal]
https://www.readbyqxmd.com/read/28032206/ovarian-adrenal-rest-tumors-undetected-by-imaging-studies-and-identified-at-surgery-in-three-females-with-congenital-adrenal-hyperplasia-unresponsive-to-increased-hormone-therapy-dosage
#4
Hua-Dong Chen, Li-E Huang, Zhi-Hai Zhong, Zhe Su, Hong Jiang, Jing Zeng, Jun-Cheng Liu
Patients with congenital adrenal hyperplasia have a predisposition for developing adrenal rest tumors. In contrast to testicular adrenal rest tumors, ovarian adrenal rest tumors are less common, and only a few cases have been reported in the literature. This report presents three Chinese female congenital adrenal hyperplasia patients (9 to 15 years of age) with small ectopic adrenal cortical nodules that were not detected by imaging but were diagnosed at surgery. All three patients developed virilization with elevation of 17- hydroxyprogesterone, androstenedione, and androgen levels despite receiving maximum adrenal hormone replacement therapy...
December 28, 2016: Endocrine Pathology
https://www.readbyqxmd.com/read/28018429/408-cases-of-genital-ambiguity-followed-by-single-multidisciplinary-team-during-23-years-etiologic-diagnosis-and-sex-of-rearing
#5
Georgette Beatriz De Paula, Beatriz Amstalden Barros, Stela Carpini, Bruna Jordan Tincani, Tais Nitsch Mazzola, Mara Sanches Guaragna, Cristiane Santos da Cruz Piveta, Laurione Candido de Oliveira, Juliana Gabriel Ribeiro Andrade, Guilherme Guaragna-Filho, Pedro Perez Barbieri, Nathalia Montibeler Ferreira, Marcio Lopes Miranda, Ezequiel Moreira Gonçalves, Andre Moreno Morcillo, Nilma Lucia Viguetti-Campos, Sofia Helena Valente Lemos-Marini, Roberto Benedito de Paiva Silva, Antonia Paula Marques-de-Faria, Maricilda Palandi De Mello, Andrea Trevas Maciel-Guerra, Gil Guerra-Junior
Objective. To evaluate diagnosis, age of referral, karyotype, and sex of rearing of cases with disorders of sex development (DSD) with ambiguous genitalia. Methods. Retrospective study during 23 years at outpatient clinic of a referral center. Results. There were 408 cases; 250 (61.3%) were 46,XY and 124 (30.4%) 46,XX and 34 (8.3%) had sex chromosomes abnormalities. 189 (46.3%) had 46,XY testicular DSD, 105 (25.7%) 46,XX ovarian DSD, 95 (23.3%) disorders of gonadal development (DGD), and 19 (4.7%) complex malformations...
2016: International Journal of Endocrinology
https://www.readbyqxmd.com/read/27998513/sexual-orientation-and-medical-history-among-iranian-people-with-complete-androgen-insensitivity-syndrome-and-congenital-adrenal-hyperplasia
#6
Behzad S Khorashad, Ghasem M Roshan, Alistair G Reid, Zahra Aghili, Mehran Hiradfar, Mozhgan Afkhamizadeh, Ali Talaei, Azadeh Aarabi, Nosrat Ghaemi, Negin Taghehchian, Hedieh Saberi, Nazanin Farahi, Mohammad Reza Abbaszadegan
OBJECTIVE: To report sexual orientation, relationship status and medical history of Iranian people with Differences of Sex Development (DSD) who were raised female. METHODS: Our participants consisted of nineteen 46,XY individuals with Complete Androgen Insensitivity Syndrome (CAIS) and eighteen 46,XX individuals with Congenital Adrenal Hyperplasia (CAH) who were raised as females and older than 13years. As well as their relationship status and detailed medical history, an expert psychiatrist assessed their sexual orientation by a semi-structured psychiatric interview with them and, where applicable, their parents...
January 2017: Journal of Psychosomatic Research
https://www.readbyqxmd.com/read/27994303/accessory-spleen-in-the-splenic-hilum-a-cadaveric-study-with-clinical-significance
#7
Shabnam Mohammadi, Arya Hedjazi, Maryam Sajjadian, Naser Ghrobi, Maliheh Dadgar Moghadam, Maryam Mohammadi
AIM: An accessory spleen is an additional tissue of the spleen that may be found near the spleen. It is a congenital anomaly of the spleen that its incidence has been reported 10-30% of the population. Hence, the objective of this study was evaluation the incidence of accessory spleen in Iranian cadavers. METHOD: Sixty hundred and ninety three spleens (541 males, 152 females) were excised from cadavers in the dissection hall of Mashhad Forensic Medicine Organization cadavers...
October 2016: Medical Archives
https://www.readbyqxmd.com/read/27978607/neonatal-17-hydroxyprogesterone-levels-adjusted-according-to-age-at-sample-collection-and-birth-weight-improve-the-efficacy-of-congenital-adrenal-hyperplasia-newborn-screening
#8
Giselle Y Hayashi, Daniel F Carvalho, Mirela C de Miranda, Cláudia Faure, Carla Vallejos, Vinícius N Brito, Andresa De Santi, Guiomar Madureira, Berenice B Mendonca, Tânia A S S Bachega
The primary concern related to CAH newborn screening (NBS) is the high rate of false-positive results (FPR) associated with prematurity; false-negative results (FNR) can also occur due to precocious sample collection OBJECTIVE: To determine the neonatal 17-hydroxyprogesterone (N17OHP) normal range in newborns in Sao Paulo using different references according to age and birth-weight, and to establish the optimal NBS cut-off levels METHODS: N17OHP levels from 271,810 newborns (NBs) according to sample collection time (G1: 48-<72 hs and G2: ≥72 hs) and birth-weight (≤1,500g, 1,501-2,000g, 2,001-2,500 and >2,500g) were evaluated...
December 15, 2016: Clinical Endocrinology
https://www.readbyqxmd.com/read/27977405/monitoring-steroid-replacement-therapy-in-children-with-congenital-adrenal-hyperplasia
#9
Niels H Birkebaek, David M Hougaard, Arieh S Cohen
BACKGROUND: The objective of this study was to compare the analysis of 17-hydroxyprogesterone (17-OHP) by radio-immunoassay (RIA) in serum with analysis by liquid chromatography tandem mass spectrometry (LC-MS/MS) on dried blood spot samples (DBSS) for monitoring therapy in children with congenital adrenal hyperplasia (CAH), and to investigate differences in 17-OHP values during the day. METHODS: Fourteen children (8 females), median age 4.2 (0.3-16.0) years, were studied...
January 1, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/27974295/cardiovascular-health-growth-and-gonadal-function-in-children-and-adolescents-with-congenital-adrenal-hyperplasia
#10
REVIEW
Christiaan F Mooij, Emma A Webb, Hedi L Claahsen van der Grinten, Nils Krone
After the introduction of replacement therapy with glucocorticoids and mineralocorticoids in the 1950s, congenital adrenal hyperplasia (CAH) is no longer a life-limiting condition. However, due to the successful introduction of medical steroid hormone replacement, CAH has become a chronic condition, with associated comorbidities and long-term health implications. The aim of treatment is the replacement of mineralocorticoids and glucocorticoids and the normalisation of elevated androgen concentrations. Long-term consequences of the condition and current treatment regimens include unfavourable changes in the cardiovascular risk profile, impaired growth, testicular adrenal rest tumours (TART) in male and subfertility in both male and female patients with CAH...
December 14, 2016: Archives of Disease in Childhood
https://www.readbyqxmd.com/read/27967205/gestational-hyperandrogenism-in-developmental-programming
#11
C Hakim, V Padmanabhan, A K Vyas
Androgen excess (hyperandrogenism) is a common endocrine disorder affecting women of reproductive age. Potential causes of androgen excess in women include: polycystic ovary syndrome, congenital adrenal hyperplasia (CAH), adrenal tumors, and racial disparity amongst many others. During pregnancy, luteoma, placental aromatase deficiency, and fetal CAH are additional causes of gestational hyperandrogenism. This paper reviews the various phenotypes of hyperandrogenism during pregnancy, its origin, pathophysiology, and the impact of hyperandrogenism on fetal developmental trajectory and offspring consequences...
December 14, 2016: Endocrinology
https://www.readbyqxmd.com/read/27966633/structure-based-activity-prediction-of-cyp21a2-stability-variants-a-survey-of-available-gene-variations
#12
Carlos D Bruque, Marisol Delea, Cecilia S Fernández, Juan V Orza, Melisa Taboas, Noemí Buzzalino, Lucía D Espeche, Andrea Solari, Verónica Luccerini, Liliana Alba, Alejandro D Nadra, Liliana Dain
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency accounts for 90-95% of CAH cases. In this work we performed an extensive survey of mutations and SNPs modifying the coding sequence of the CYP21A2 gene. Using bioinformatic tools and two plausible CYP21A2 structures as templates, we initially classified all known mutants (n = 343) according to their putative functional impacts, which were either reported in the literature or inferred from structural models. We then performed a detailed analysis on the subset of mutations believed to exclusively impact protein stability...
December 14, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27965122/assembling-a-functional-clitoris-and-vulva-from-a-pseudo-penis-a-surgical-technique-for-an-adult-woman-with-congenital-adrenal-hyperplasia
#13
Wiebren A A Tjalma
BACKGROUND: Congenital adrenal hyperplasia (CAH) is associated with a genital deformation that may cause a negative body image. The genital ambiguity is generally "corrected" surgically during early infancy. The advantage is a psychological benefit. The disadvantages are multiple surgical procedures and the loss of orgasm. CASE: A 22-year-old woman with CAH consulted for genital reconstructive surgery. She had a pseudo-penis of 4 cm and could achieve an orgasm by masturbating...
December 10, 2016: Journal of Pediatric and Adolescent Gynecology
https://www.readbyqxmd.com/read/27959413/17%C3%AE-%C3%A2-hydroxylase-17-20%C3%A2-lyase-deficiency-in-congenital-adrenal-hyperplasia-a-case-report
#14
Simiao Xu, Shuhong Hu, Xuefeng Yu, Muxun Zhang, Yan Yang
Congenital adrenal hyperplasia (CAH) is a rare autosomal recessive disorder caused by mutations in the cytochrome P450 family 17 subfamily A member 1 (CYP17A1) gene located on chromosome 10q24.3, which leads to a deficiency in 17α‑hydroxylase/17,20‑lyase. The disorder is characterized by low blood levels of estrogens, androgens and cortisol, which leads to a compensatory increase in adrenocorticotropic hormone levels that stimulate the production of mineralocorticoid precursors. This subsequently leads to hypertension, hypokalemia, primary amenorrhea and sexual infantilism...
January 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/27933170/growth-of-a-progesterone-receptor-positive-meningioma-in-a-female-patient-with-congenital-adrenal-hyperplasia
#15
T O'Shea, R K Crowley, M Farrell, S MacNally, P Govender, J Feeney, J Gibney, M Sherlock
: Meningioma growth has been previously described in patients receiving oestrogen/progestogen therapy. We describe the clinical, radiological, biochemical and pathologic findings in a 45-year-old woman with congenital adrenal hyperplasia secondary to a defect in the 21-hydroxylase enzyme who had chronic poor adherence to glucocorticoid therapy with consequent virilisation. The patient presented with a frontal headache and marked right-sided proptosis. Laboratory findings demonstrated androgen excess with a testosterone of 18...
2016: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/27932079/urinary-continence-outcomes-following-vaginoplasty-in-patients-with-congenital-adrenal-hyperplasia
#16
John Stites, Kerlly J Bernabé, Denise Galan, Diane Felsen, Dix P Poppas
BACKGROUND: Feminizing genitoplasty techniques have diversified to encompass the spectrum of atypical genitalia in 46,XX congenital adrenal hyperplasia (CAH) patients. However, long-term outcomes evaluating postoperative continence following complex vaginoplasty remain scarce. OBJECTIVE: The aim was to review our surgical experience and assess postoperative urinary continence outcomes in CAH patients following complex, primary vaginoplasty. STUDY DESIGN: We retrospectively reviewed CAH patients who underwent complex, primary vaginoplasty at a single center by a single surgeon from 1996 to 2013...
November 22, 2016: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/27929529/utility-of-a-precursor-to-product-ratio-in-the-evaluation-of-presumptive-positives-in-newborn-screening-of-congenital-adrenal-hyperplasia
#17
P Y Tieh, J K Yee, R A Hicks, C S Mao, W-Np Lee
OBJECTIVE: Screening for congenital adrenal hyperplasia (CAH) caused by 21-α-hydroxylase deficiency is challenging because factors such as prematurity and stress increase intermediate steroid metabolite levels in newborn infants. The objective of this study was to explore the use of the 17-α-hydroxyprogesterone (17-OHP)/11-deoxycortisol ratio as an adjunct measure in the follow-up evaluation of infants with presumptive positive newborn screens for CAH to distinguish between infants with no disorder and those with CAH...
December 8, 2016: Journal of Perinatology: Official Journal of the California Perinatal Association
https://www.readbyqxmd.com/read/27928728/clinical-perspectives-in-congenital-adrenal-hyperplasia-due-to-11%C3%AE-hydroxylase-deficiency
#18
REVIEW
Krupali Bulsari, Henrik Falhammar
Congenital adrenal hyperplasia due to 11 beta-hydroxylase deficiency is a rare autosomal recessive genetic disorder. It is caused by reduced or absent activity of 11β-hydroxylase (CYP11B1) enzyme and the resultant defects in adrenal steroidogenesis. The most common clinical features of 11 beta-hydroxylase deficiency are ambiguous genitalia, accelerated skeletal maturation and resultant short stature, peripheral precocious puberty and hyporeninemic hypokalemic hypertension. The biochemical diagnosis is based on raised serum 11-deoxycortisol and 11-deoxycorticosterone levels together with increased adrenal androgens...
December 7, 2016: Endocrine
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
#19
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
#20
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
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