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Congenital adrenal hyperplasia

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https://www.readbyqxmd.com/read/28207417/adrenarche-unmasks-compound-heterozygous-3%C3%AE-hydroxysteroid-dehydrogenase-deficiency-c-244g-a-p-ala82thr-and-the-novel-931c-t-p-gln311-variant-in-a-non-salt-wasting-severely-undervirilised-46xy
#1
Stephanie Louise Teasdale, Adam Morton
3β-Hydroxysteroid dehydrogenase type II deficiency (3βHSD2) congenital adrenal hyperplasia is a rare cause of ambiguous genitalia, resulting in abnormal virilisation in both 46XY and 46XX. We describe a case of 46XY ambiguous genitalia that was misdiagnosed as androgen insensitivity syndrome. The correct diagnosis was made after adrenarche. Genotyping demonstrated compound heterozygosity in two alleles, the previously described c.244G>A (p.Ala82Thr), and a novel 931C>T(p.Gln311*) variant. We suggest that adrenarche unmasked the condition by driving cortisol production to rates that caused the mutant 3bHSD2 enzyme to become rate limiting for cortisol production...
February 16, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28199739/obesity-in-children-with-congenital-adrenal-hyperplasia-in-the-minnesota-cohort-importance-of-adjusting-body-mass-index-for-height-age
#2
Kyriakie Sarafoglou, Gregory P Forlenza, O Yaw Addo, Jennifer Kyllo, Aida Lteif, P C Hindmarsh, Anna Petryk, Maria Teresa Gonzalez-Bolanos, Bradley S Miller, William Thomas
OBJECTIVES: To evaluate obesity and overweight in children with congenital adrenal hyperplasia (CAH), and associations with glucocorticoids, fludrocortisone and disease control. Adjusting body mass index for-height-age (BMIHA ) percentile is proposed to correct misclassification of obese/overweight status in CAH children with advanced bone age and tall-for-age stature. DESIGN: Longitudinal. PATIENTS: 194 children with CAH seen from 1970-2013: 124 salt-wasting (SW); 70 simple-virilizing (SV); 102 females...
February 15, 2017: Clinical Endocrinology
https://www.readbyqxmd.com/read/28192635/risk-factors-for-hospitalization-of-children-with-congenital-adrenal-hyperplasia
#3
Ming Yang, Perrin C White
BACKGROUND AND OBJECTIVES: Patients with congenital adrenal hyperplasia (CAH) owing to 21-hydroxylase deficiency are prone to potentially life-threatening adrenal crises. We tried to identify risk factors for post-diagnosis hospitalization for children with the salt wasting form of CAH. METHODS: We reviewed medical records of all children who presented to Children's Medical Center Dallas from 1999 to 2013 with congenital adrenal hyperplasia (ICD-9 code 255.2). RESULTS: 522 unique patients were coded for ICD-9 code of 255...
February 13, 2017: Clinical Endocrinology
https://www.readbyqxmd.com/read/28188961/high-serum-progesterone-associated-with-infertility-in-a-woman-with-nonclassic-congenital-adrenal-hyperplasia
#4
Yoshimasa Kawarai, Hiroshi Ishikawa, Tomoya Segawa, Shokichi Teramoto, Tomoaki Tanaka, Makio Shozu
Nonclassic congenital adrenal hyperplasia (NCAH) is an autosomal-recessive disorder caused by 21-hydroxylase deficiency and manifests as hirsutism and oligomenorrhea due to excess adrenal androgen and progesterone. We report a case of a woman with NCAH who showed continuous high serum progesterone levels in the follicular phase associated with impaired folliculogenesis. NCAH was diagnosed based on high 17-hydroxyprogesterone levels after rapid adrenocorticotropic hormone loading, and three heterozygous missense mutations in CYP21A2, encoding 21-hydroxylase, were identified...
February 11, 2017: Journal of Obstetrics and Gynaecology Research
https://www.readbyqxmd.com/read/28161392/-recommendations-for-the-diagnosis-and-treatment-of-classic-forms-of-21-hydroxylase-deficient-congenital-adrenal-hyperplasia
#5
Amparo Rodríguez, Begoña Ezquieta, José Igancio Labarta, María Clemente, Rafael Espino, Amaia Rodriguez, Aranzazu Escribano
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency is an autosomal recessive disorder caused by mutations in the CYP21A2 gene. Cortisol and aldosterone synthesis are impaired in the classic forms (adrenal insufficiency and salt-wasting crisis). Females affected are virilised at birth, and are at risk for genital ambiguity. In this article we give recommendations for an early as possible diagnosis and an appropriate and individualised treatment. A patient and family genetic study is essential for the diagnosis of the patient, and allows genetic counselling, as well as a prenatal diagnosis and treatment for future pregnancy...
February 1, 2017: Anales de Pediatría: Publicación Oficial de la Asociación Española de Pediatría (A.E.P.)
https://www.readbyqxmd.com/read/28126912/growth-hormone-with-aromatase-inhibitor-may-improve-height-in-cyp11b1-congenital-adrenal-hyperplasia
#6
Katherine Hawton, Sandra Walton-Betancourth, Gill Rumsby, Joseph Raine, Mehul Dattani
With an estimated prevalence of 1 in 100 000 births, 11β-hydroxylase deficiency is the second most common form of congenital adrenal hyperplasia (CAH) and is caused by mutations in CYP11B1 Clinical features include virilization, early gonadotropin-independent precocious puberty, hypertension, and reduced stature. The current mainstay of management is with glucocorticoids to replace deficient steroids and to minimize adrenal sex hormone overproduction, thus preventing virilization and optimizing growth. We report a patient with CAH who had been suboptimally treated and presented to us at 6 years of age with precocious puberty, hypertension, tall stature, advanced bone age, and a predicted final height of 150 cm...
January 26, 2017: Pediatrics
https://www.readbyqxmd.com/read/28115464/management-of-endocrine-disease-congenital-adrenal-hyperplasia-due-to-21-hydroxylase-deficiency-update-in-management-of-adult-patients-and-prenatal-treatment
#7
Anne Bachelot, Virginie Grouthier, Carine Courtillot, Jerome Dulon, Philippe Touraine
Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is characterized by cortisol and in some cases aldosterone deficiency associated with androgen excess. Goals of treatment are to replace deficient hormones and control androgen excess, while avoiding the adverse effects of exogenous glucocorticoid (GC). Over the last 5 years, cohorts of adults with CAH due to 21hydroxylase deficiency from Europe and the United States have been described, allowing us to have a better knowledge of long-term complications of the disease and its treatment...
January 23, 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28100629/impact-of-food-alcohol-and-ph-on-modified-release-hydrocortisone-developed-to-treat-congenital-adrenal-hyperplasia
#8
Nayananjani Karunasena, Daniel Margetson, Greg Neal, Martin Whitaker, Richard J Ross
BACKGROUND: We developed a modified-release hydrocortisone, Chronocort®, to replace the cortisol rhythm in patients with congenital adrenal hyperplasia. Food, alcohol and pH affect drug absorption and it is important to assess their impact when replicating a physiological rhythm. SUBJECTS AND METHODS: In vitro dissolution to study impact of alcohol and pH on Chronocort®. A Phase 1, three-period, cross over study in 18 volunteers to assess the impact of food on Chronocort® and to compare bioavailability to immediate-release hydrocortisone...
January 18, 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28095810/neonatal-screening-for-congenital-adrenal-hyperplasia-in-southern-brazil-a-population-based-study-with-108-409-infants
#9
Cristiane Kopacek, Simone Martins de Castro, Mayara Jorgens Prado, Claudia Maria Dornelles da Silva, Luciana Amorim Beltrão, Poli Mara Spritzer
BACKGROUND: Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder associated with inborn errors of steroid metabolism. 21-hydroxylase enzyme deficiency occurs in 90 to 95% of all cases of CAH, with accumulation of 17 hydroxyprogesterone (17-OHP). Early diagnosis of CAH based on newborn screening is possible before the development of symptoms and allows proper treatment, correct sex assignment, and reduced mortality rates. This study describes the results obtained in the first year of a public CAH screening program in the state of Rio Grande do Sul, Brazil...
January 17, 2017: BMC Pediatrics
https://www.readbyqxmd.com/read/28089605/commentary-to-urinary-continence-outcome-following-vaginoplasty-in-patients-with-congenital-adrenal-hyperplasia
#10
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
#11
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
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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