The role of the endocrine nurse in the care and treatment of children with congenital adrenal hyperplasia and in their transition to the adult service

2013 ◽  
Author(s):  
Margaret Keil
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Adrenal Hyperplasia ◽  
Adult Service ◽  
Care And Treatment

scholarly journals The role of imaging in congenital adrenal hyperplasia

2014 ◽  
Vol 58 (7) ◽  
pp. 701-708 ◽  
Author(s):  
Sara Reis Teixeira ◽  
Paula Condé Lamparelli Elias ◽  
Marco Túlio Soares Andrade ◽  
Andrea Farias Melo ◽  
Jorge Elias Junior
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Adrenal Tumors ◽  
Adrenal Hyperplasia ◽  
Salt Wasting ◽  
Testicular Adrenal Rest Tumors ◽  
High Incidence ◽  
Adrenal Rest ◽  
Hormonal Evaluation

Congenital adrenal hyperplasia (CAH) is an autossomic recessive disorder caused by impaired steroidogenesis. Patients with CAH may present adrenal insufficiency with or without salt-wasting, as well as various degrees of virilization and fertility impairment, carrying a high incidence of testicular adrenal rest tumors and increased incidence of adrenal tumors. The diagnosis of CAH is made based on the adrenocortical profile hormonal evaluation and genotyping, in selected cases. Follow-up is mainly based on hormonal and clinical evaluation. Utility of imaging in this clinical setting may be helpful for the diagnosis, management, and follow-up of the patients, although recommendations according to most guidelines are weak when present. Thus, the authors aimed to conduct a narrative synthesis of how imaging can help in the management of patients with CAH, especially focused on genitography, ultrasonography, computed tomography, and magnetic resonance imaging.

Growth of patients with congenital adrenal hyperplasia due to 21-hydroxylase in infancy, glucocorticoid requirement and the role of mineralocorticoid therapy

2018 ◽  
Vol 31 (9) ◽  
pp. 1019-1022
Author(s):  
Jack Sellick ◽  
Sarah Aldridge ◽  
Matthew Thomas ◽  
Tim Cheetham
Keyword(s):  
Standard Deviation ◽  
Congenital Adrenal Hyperplasia ◽  
Standard Deviation Score ◽  
Normal Growth ◽  
Height Velocity ◽  
Adrenal Hyperplasia ◽  
Growth Data ◽  
Hydroxylase Deficiency ◽  
21 Hydroxylase Deficiency

Abstract Background The dose of hydrocortisone therapy required to maintain normal growth in infants with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is lower than in later childhood. This reflects the presence of excess non-aromatisable rather than aromatisable androgen but there has been relatively little focus on the role of mineralocorticoid therapy. Methods Growth data of infants with CAH due to 21-hydroxylase deficiency (2008–2016) were reviewed and information regarding hydrocortisone and fludrocortisone regimen was collected. Change in height standard deviation (SD) and height velocity standard deviation score (SDS) were analysed during the first year of life. Results Growth data from 13 children (8 M) were analysed. Height (length) declined from a median of −0.69 SD at 3 months to −1.23 SD at 12 months with a reduction in height velocity SDS from 0.02 between 3 and 6 months to −2.22 between 9 and 12 months (p=0.017) despite a hydrocortisone dose at the lower end of the range as recommended in consensus guidelines. The glucocorticoid activity of hydrocortisone and fludrocortisone was negatively associated with growth velocity (r=−0.55; p=0.049) although renin activity was not suppressed. Conclusions Infants with 21-hydroxylase deficiency can be managed with replacement hydrocortisone. The reasons for this paradigm are now understood although our data confirm that the glucocorticoid activity of fludrocortisone needs to be taken into consideration as well.

scholarly journals POLYCYSTIC OVARIAN DISEASE

2016 ◽  
Vol 23 (07) ◽  
pp. 775-779
Author(s):  
Razia Tarique Qureshi ◽  
Fouzia Rahim ◽  
Gulfreen Haidar
Keyword(s):  
Menstrual Cycle ◽  
Congenital Adrenal Hyperplasia ◽  
Study Design ◽  
Cushing Syndrome ◽  
Clomiphene Citrate ◽  
Menstrual Irregularity ◽  
Adrenal Hyperplasia ◽  
Polycystic Ovarian Disease ◽  
Detailed History

Objectives: To determine the role of metformin in correcting the irregularity ofmenstrual periods and infertility due to PCO. Study Design: Descriptive observational study.Setting: Gynecology Department of PUMHS Nawabshah. Period: 4th February 2010 up toNovember 2011. Patients and methods: Total 329 patients had selected in this series, based onpresence of PCO on ultrasound with 2 or extra following criteria like oligomenorrhea, hirsutism,hyperandrogenism and reversed FSH: LH ratio. Other endocrinal reasons of female infertilityas Cushing syndrome, congenital adrenal hyperplasia, hyperprolectinemia and cases thyroiddisorder had excluded. After detailed history, Metformin was started with dose of 250mgonce a day initially then gradually adjusted to 500mg TD. Weight decreased was encouragedwith diet and the exercise. Cases assessed after six months for checking regularity of theirmenstrual cycle, fertility and the BMI change. Cases those not be success to conceive following6 months, than the ongoing criteria of clomiphene. Women those failed to conceive afteruses of clomiphene citrate, than metformin alone was sustained and fertility had re evaluatedon end of 1 year. Results: 329 cases had selected. Commonest menstrual irregularity wasoligomenorrhea with hypo menorrhea which is seen in 46% of patients. After six months ofmetformin treatment 82% cases assessed improvement of menstrual cycle, while 13% still haveoligomenorrhea. Results found significant (P<0.001) .BMI of all study patients was comparedprior and then treatment and significant results were found (P <0.001). After six months forfertility analysis, complete data was available from 117 patients only. Overall fertility rate was91.1%. Conclusion: Metformin is successful treatment of cases having PCOS.

scholarly journals Clinical Role of CYP2C19 Polymorphisms in Patients with Congenital Adrenal Hyperplasia Due to 21-hydroxylase Deficiency

2016 ◽  
Vol 63 (1) ◽  
pp. 33-37 ◽  
Author(s):  
Urh Grošelj ◽  
Mojca Žerjav Tanšek ◽  
Katarina Trebušak Podkrajšek ◽  
Tinka Hovnik ◽  
Tadej Battelino ◽  
...  
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Adrenal Hyperplasia ◽  
Hydroxylase Deficiency ◽  
Clinical Role ◽  
21 Hydroxylase Deficiency ◽  
Cyp2c19 Polymorphisms

scholarly journals Glucocorticoid Activity of Adrenal Steroid Precursors in Untreated Patients With Congenital Adrenal Hyperplasia

2019 ◽  
Vol 104 (11) ◽  
pp. 5065-5072 ◽  
Author(s):  
Manon Engels ◽  
Karijn J Pijnenburg-Kleizen ◽  
Agustini Utari ◽  
Sultana M H Faradz ◽  
Sandra Oude-Alink ◽  
...  
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Clinical Signs ◽  
Adrenal Hyperplasia ◽  
Blood Concentrations ◽  
Adrenal Steroid ◽  
17 Hydroxyprogesterone ◽  
Cortisol Deficiency ◽  
Steroid Precursor

Abstract Context and Objective We describe the clinical features and biochemical characteristics of a unique population of severely affected untreated patients with congenital adrenal hyperplasia (CAH) from an Indonesian population with proven cortisol deficiency but without clinical signs of cortisol deficiency. We evaluated the in vitro glucocorticoid activity of all relevant adrenal steroid precursors occurring in patients with CAH. Design Cross-sectional cohort study and translational research. Intervention/Main Outcome Measures Adrenal steroid precursor concentrations before and 60 minutes after ACTH administration to 24 untreated patients with CAH (3 to 46 years) with proven cortisol deficiency (<500 nmol/L post-ACTH) measured by liquid chromatography–tandem mass spectrometry were compared with six control patients (Mann-Whitney U test). Glucocorticoid receptor (GR) activation was determined by dual-luciferase assays in human embryonic kidney cells transfected with the GR and exposed to increasing amounts of adrenal steroid precursors for 24 hours. Results Blood concentrations of the steroid precursors 11-deoxycortisol (457 nmol/L, P = 0.003), 11-deoxycorticosterone (55 nmol/L, P = 0.003), 17-hydroxyprogesterone (610 nmol/L, P < 0.001), progesterone (29 nmol/L, P < 0.001), and 21-deoxycortisol (73 nmol/L) were strongly elevated compared with control subjects. The GR was activated with comparable potency to cortisol by corticosterone and 21-deoxycortisol or with 4 to 100 times lower potency by 11-hydroxyprogesterone, 11-deoxycortisol, aldosterone, 11-deoxycorticosterone, progesterone, and 17-hydroxyprogesterone. Conclusions We identified strongly elevated adrenal steroid precursor concentrations in blood from untreated patients with CAH and demonstrated glucocorticoid activity of these adrenal precursors in vitro, suggesting a possible role of these precursors in the clinical phenotype of these patients. Further studies are necessary to evaluate the role of these precursors in more detail.

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