Clinical aspects of congenital adrenal hyperplasia: Early diagnosis and prognosis

1986 ◽  
Vol 9 (S1) ◽  
pp. 115-123 ◽  
Author(s):  
I. A. Hughes
Keyword(s):  
Early Diagnosis ◽  
Congenital Adrenal Hyperplasia ◽  
Clinical Aspects ◽  
Adrenal Hyperplasia ◽  
Diagnosis And Prognosis

EARLY DIAGNOSIS OF CONGENITAL ADRENAL HYPERPLASIA

The Lancet ◽  
1977 ◽  
Vol 309 (8009) ◽  
pp. 487 ◽  
Author(s):  
IeuanA. Hughes ◽  
D.H. Williams ◽  
A.D. Birch
Keyword(s):  
Early Diagnosis ◽  
Congenital Adrenal Hyperplasia ◽  
Adrenal Hyperplasia

scholarly journals Estimation of the false-negative rate in newborn screening for congenital adrenal hyperplasia

2005 ◽  
Vol 152 (6) ◽  
pp. 869-874 ◽  
Author(s):  
Felix Votava ◽  
Dóra Török ◽  
József Kovács ◽  
Dorothea Möslinger ◽  
Sabina M Baumgartner-Parzer ◽  
...  
Keyword(s):  
Early Diagnosis ◽  
Congenital Adrenal Hyperplasia ◽  
Newborn Screening ◽  
False Negative ◽  
False Negative Rate ◽  
Adrenal Hyperplasia ◽  
Hydroxylase Deficiency ◽  
Blood Spots ◽  
Negative Rate ◽  
21 Hydroxylase Deficiency

Objective: Newborn screening based on measurement of 17α-hydroxyprogesterone (17-OHP) in a dried blood spot on filter paper is an effective tool for early diagnosis of congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency. Its most important rationale is prevention of a life-threatening salt-wasting (SW) crisis; in moderate forms of CAH, early diagnosis and treatment may prevent permanent negative effects of androgen overproduction. Our target was to analyse if all CAH patients who had been identified clinically before puberty would have been detected by the newborn screening. Methods: Newborn screening cards of 110 CAH patients born between 1988 and 2000 in five Middle-European countries and diagnosed prior to puberty (77 SW and 33 moderate) and cards from 920 random, healthy newborn controls were analysed. CAH screening had not yet been introduced during this time. The diagnosis was based on clinical and laboratory signs and, in most cases, on CYP21 gene mutation analysis. All 17-OHP measurements in dried blood spots were carried out using a time-resolved fluoroimmunoassay kit. Results: In the newborn screening blood spots, the median of 17-OHP levels was 561 nmol/l (range 91–1404 nmol/l) in subjects with the SW form and 40 nmol/l (4–247 nmol/l) in the moderate form. All 77 SW patients would have been detected by newborn screening using the recommended cut-off limits (30 nmol/l). However, 10 of 33 patients with moderate CAH would have been missed. 17-OHP levels of all controls were below the cut-off. Conclusion: Newborn screening is efficient for diagnosing the SW form of CAH, but is inappropriate for identifying all patients with a moderate form of CAH. It appears that the false-negative rate is at least one-third in children with the moderate form of CAH.

scholarly journals Cognitive Function of Children and Adolescents With Congenital Adrenal Hyperplasia: Importance of Early Diagnosis

2020 ◽  
Vol 105 (3) ◽  
pp. e683-e691 ◽  
Author(s):  
Valeria Messina ◽  
Leif Karlsson ◽  
Tatja Hirvikoski ◽  
Anna Nordenström ◽  
Svetlana Lajic
Keyword(s):  
Early Diagnosis ◽  
Executive Functions ◽  
Congenital Adrenal Hyperplasia ◽  
Children And Adolescents ◽  
Replacement Therapy ◽  
Neonatal Screening ◽  
Screening Program ◽  
Intellectual Ability ◽  
Adrenal Hyperplasia ◽  
Population Controls

Abstract Context Patients with classic congenital adrenal hyperplasia (CAH) are treated postnatally with lifelong glucocorticoid (GC) replacement therapy. Previous results on general cognitive ability in individuals with CAH have been conflicting. Objective To evaluate long-term cognitive effects of GC replacement therapy and the impact of early diagnosis in children with CAH. Design and Setting Observational study with patients from a single research institute. Patients 32 children with CAH (mean age 11.5 years) identified through the Swedish national neonatal screening program for CAH and 52 matched population controls (mean age 10.7 years). Eleven (6 female) children with CAH who were treated prenatally with dexamethasone (DEX), (CAH-DEX) (mean age 11.7 years). Intervention GC replacement therapy, neonatal screening for CAH. Measures Cognitive abilities assessed with standardized neuropsychological tests (Wechsler scales, Span Board Test, Stroop Interference Test, NEPSY list learning). Results Children with CAH (not prenatally treated) performed equally well as population controls on a series of tests assessing general intellectual ability and executive functions. No significant differences were observed in cognitive performance between patients with different genotypes (null, non-null). Patients with salt-wasting CAH performed poorer than patients with simple virilizing CAH in a test assessing visuo-spatial working memory (P = 0.039), although the performance was within the normal range for the population. Prenatally DEX-treated girls with CAH had lower verbal intellectual ability compared with CAH girls not exposed to prenatal treatment (P = 0.037). Conclusion Children and adolescents with CAH who were diagnosed early via a neonatal screening program and treated with hydrocortisone had normal psychometric intelligence and executive functions.

Clinical aspects of congenital adrenal hyperplasia due to 21-hydroxylase deficiency

2020 ◽  
Vol 3-4 (213-214) ◽  
pp. 26-32
Author(s):  
Rimma Bazarbekova ◽  
◽  
Tamara Ermakhanova ◽  
Oral Onlassynova ◽  
Ayaulym Alpan ◽  
...  
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Residual Activity ◽  
Hereditary Diseases ◽  
Clinical Aspects ◽  
Adrenal Hyperplasia ◽  
Case Histories ◽  
Hydroxylase Deficiency ◽  
Salt Wasting ◽  
Simple Virilizing ◽  
21 Hydroxylase Deficiency

21-hydroxylase deficiency is the cause of one of the most common hereditary diseases - congenital adrenal hyperplasia (CAH). The level of residual activity of 21-hydroxylase determines the clinical form and severity of the course of the disease. The article presents the clinical characteristics of two forms of CAH – salt-wasting and simple virilizing. Objective. To study the clinical aspects of CAH due to 21-hydroxylase deficiency in children. Material and methods. We analyzed 57 archived case histories and 58 extracts from case histories of children from 0 to 18 years old with an established diagnosis of CAH. In general, the sample comprised cases, of which 36 were boys (48%) and 39 (52%) girls. Results and discussion. Of the 75 children with CAH, 43 (57.3%) had a salt-wasting form, 32 (42.7%) had a simple virilizing form. In children with salt-wasting form, the leading clinical manifestation was salt loss syndrome, with simple virilizing - viril syndrome. The average age of diagnosis with salt-wasting form was 1.5 months (from 1 to 2.6 months), with simple virilizing - 3 years (from 1.4 to 4.4 years). Conclusions. According to our data, in Kazakhstan, the salt- wasting form of СAH is diagnosed more often than a simple virilizing form (57.3% / 42.7%). The problems of timely diagnosis of CAH and in the selection of the appropriate passport gender of the child were identified. Keywords: congenital adrenal hyperplasia, 21-hydroxylase deficiency, salt-wasting form, simple virilizing form.

926: Dorsal Nerve Preservation in Modified Reduction Clitoroplasty in Congenital Adrenal Hyperplasia (CAH)

2007 ◽  
Vol 177 (4S) ◽  
pp. 307-307
Author(s):  
Ariella Hochsztein ◽  
Rebecca Baergen ◽  
Emily Loyd ◽  
Jie Chen ◽  
Diane Felsen ◽  
...  
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Adrenal Hyperplasia ◽  
Nerve Preservation ◽  
Dorsal Nerve
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