Evaluation of Neonatal Screening for Congenital Adrenal Hyperplasia

Honour, John W.; Torresani, Toni

doi:10.1159/000049997

Cited by 50 publications

(37 citation statements)

References 22 publications

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“…Although this is a retrospective study and presents the typical limitations of this kind of investigation, we believe that it may be useful in the management of newborns with transient serum hyper-17-OHPemia. It is well known that increased 17-OHP levels are common in preterm and low BW infants (13)(14)(15)35), and are especially premature newborns with a GA of !31 weeks to have elevated screening 17-OHP levels without inborn errors of steroid biosynthesis (46), also in relation to the physiologically delayed expression of the enzyme 11-b-hydroxylase (47). On the contrary, all newborns of our population had a GA of at least 33 weeks and presented normal values of 11-deoxycortisol before and after ACTH stimulation.…”

Section: Discussionmentioning

confidence: 99%

“…A significant drawback of neonatal screening for 21-OHD is the high false-positive rate, mainly among ill, preterm, and low birth weight (BW) infants (13)(14)(15). Therefore, the different screening programs have established 17-OHP cut-off levels in relation to gestational age (GA) (13,(16)(17)(18)(19)(20) or BW (21,22), so that the falsepositive rate could be reduced.…”

Section: Introductionmentioning

confidence: 99%

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Transient hyper-17-hydroxyprogesteronemia: a clinical subgroup of patients diagnosed at neonatal screening for congenital adrenal hyperplasia

Cavarzere

Samara-Boustani²,

Flechtner³

et al. 2009

European Journal of Endocrinology

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Objective: Neonatal screening for congenital adrenal hyperplasia (CAH) is characterized by a high false-positive rate, mainly among preterm and low birth weight infants. The aims of this study were to describe a subgroup of infants with transient serum hyper-17-hydroxyprogesteronemia and to compare them with false positive and affected by 21-hydroxylase deficiency newborns. Methods: We retrospectively analyzed the clinical data of all newborns positive at CAH neonatal screening, who were referred to our hospital to confirm the diagnosis from 2002 to 2006. They were submitted to clinical investigations and blood tests to evaluate 17-hydroxyprogesterone (17-OHP), renin, and electrolyte levels. CAH-unaffected newborns with increased serum 17-OHP were submitted to strict follow-up monitoring, which included an ACTH-stimulating test and genetic analysis of the 21-hydroxylase gene, until serum 17-OHP decreased. Results: Thirty-seven newborns with gestational ages ranging from 33 to 40 weeks were studied. Eight infants (three male and five female) were affected by CAH (serum 17-OHP: 277.5 (210-921) nmol/l), 14 (ten male and four female) were false positives (17-OHP: 3.75 (0.3-8.4) nmol/l), and 15 (ten male and five female) showed a serum hyper-17-OHPemia (17-OHP: 15.9 (9.9-33) nmol/l). No mutations of the 21-hydroxylase gene were found in infants with hyper-17-OHPemia and their serum 17-OHP levels were normalized by the third month of life. Conclusion:We identified a population of infants with transient serum hyper-17-OHPemia, and no clinical signs of disease or 21-hydroxylase gene mutations. No further investigations are necessary after birth in these newborns if 17-OHP levels decrease, other confirmatory tests such as ACTH-stimulation test or genotyping analysis are necessary only if symptoms appear.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Transient hyper-17-hydroxyprogesteronemia: a clinical subgroup of patients diagnosed at neonatal screening for congenital adrenal hyperplasia

Cavarzere

Samara-Boustani²,

Flechtner³

et al. 2009

European Journal of Endocrinology

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“…When present, adrenal crisis is characterized by volume depletion, dehydration, hypotension, hyponatremia and hypokalemia which can result in death if not treated (5). The nonclassic form manifests in both genders in the postnatal period with premature pubarche, clitoromegaly or enlarged penis, increase in growth rate with advance in bone age, and eventually, decrease in the estimated final height (6,7).…”

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confidence: 99%

Ten-year evaluation of a Neonatal Screening Program for Congenital Adrenal Hyperplasia

Nascimento

Cristiano

Campos

et al. 2014

Arq Bras Endocrinol Metab

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Objective: Evaluate the Neonatal Screening Program (NSP) for congenital adrenal hyperplasia (CAH) of the Department of Health of the State of Santa Catarina (Secretaria de Estado da Saúde de Santa Catarina, SES/SC), and provide information to improve the program. Subjects and methods: Descriptive, retrospective study of 748,395 children screened between January 2001 and December 2010. We analyzed the coverage of the NSP-SES/SC prevalence of CAH, child's age when the first sample for 17-hydroxyprogesterone (17OHP) measurement was collected, levels of 17OHP, mean age at treatment onset and main clinical manifestations. Results: The NSP-SES/ SC covered 89% of the live newborns in the State. It diagnosed 50 cases of CAH, yielding an incidence of 1:14,967. Mean age at collection of the first sample was 7.3 days and mean level of 17OHP was 152.9 ng/mL. The most frequent manifestations were virilized genitalia with nonpalpable gonads, clitoromegaly and genital hyperpigmentation. In three girls, the genre established at birth was incorrect. The salt-wasting form was present in 74% of the cases. There was no occurrence of shock or death. Mean age at treatment onset in the salt-wasting form was 17.4 days compared with 54.9 days in those without the salt-wasting form of the disease. All children were treated with hydrocortisone, and those with salt-wasting CAH were also treated with fludrocortisone. Conclusions: The incidence of CAH was 1 case to 14,967 live newborns. Collection of the first sample occurred outside the recommended time, resulting in delays in treatment onset. Arq Bras Endocrinol Metab. 2014;58(7):765-71

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“…Subseqüentemente, vários programas foram iniciados na Itália, Japão, França, Suécia, Suíça, Nova Zelândia e Israel, assim como em outros países onde a incidência da HAC-D21OH é muito elevada, como na Islândia (4)(5)(6)(7)(8). A triagem para HAC-D21OH foi introduzida nos EUA em 1987 e, atualmente, 38 estados norte-americanos realizam rotineiramente esta investigação (9).…”

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Triagem neonatal para hiperplasia adrenal congênita: experiência do estado do Rio de Janeiro

Cardoso

Fonseca

Oliveira

et al. 2005

Arq Bras Endocrinol Metab

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OBJETIVO: Descrever a distribuição das concentrações de 17OH Progesterona (17OHP) na triagem neonatal para pesquisa de Hiperplasia Adrenal Congênita por deficiência da 21hidroxilase (HAC-D21OH). CASUÍSTICA E MÉTODO: Análise da 17OHP por método imunofluorimétrico em 76.360 amostras de sangue colhido em papel filtro no período de junho de 1992 a dezembro de 2000 no Estado do Rio de Janeiro. O valor de corte foi definido em 10ng/mL e os casos com resultados acima deste valor eram chamados para nova coleta. RESULTADOS: Foram reconvocados 38 casos para nova coleta, sendo confirmados 11 casos com a forma clássica da HAC-D21OH (4 do sexo masculino, 6 feminino e 1 indeterminado), com valores de 17OHP na primeira amostra variando de 25 a 254,5ng/mL (média de 133ng/mL) e na segunda amostra de 45,86 a 360ng/mL (média de 218,84ng/mL). Os pacientes com a forma perdedora de sal apresentaram concentrações mais elevadas que os com a forma virilizante simples, tanto na primeira amostra (média de 169,21 contra 27,46ng/mL) quanto na segunda (média de 227,16 versus 110,95ng/mL). As concentrções de 17OHP nos 27 casos não confirmados (falso-positivos) variaram de 10,27 a 27,50ng/mL (média de 14,80ng/mL) na primeira amostra e de 2,39 a 32,39ng/mL (média 10,07ng/mL) na segunda amostra. Oito mantiveram concentrações de 17OHP moderadamente elevadas, sendo que normalizaram no decorrer do primeiro ano de vida em 7 casos, e em 1 paciente, apesar de assintomático, manteve valores elevados de 17OHP durante o acompanhamento de oito anos, com teste de estímulo com ACTH compatível com a forma não clássica da HCA-D21OH. CONCLUSÃO: A dosagem da 17OHP foi um método eficaz para a triagem da HAC-D21OH sendo capaz de discriminar as crianças normais daquelas acometidas pela forma clássica da doença.

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Evaluation of Neonatal Screening for Congenital Adrenal Hyperplasia

Cited by 50 publications

References 22 publications

Transient hyper-17-hydroxyprogesteronemia: a clinical subgroup of patients diagnosed at neonatal screening for congenital adrenal hyperplasia

Transient hyper-17-hydroxyprogesteronemia: a clinical subgroup of patients diagnosed at neonatal screening for congenital adrenal hyperplasia

Ten-year evaluation of a Neonatal Screening Program for Congenital Adrenal Hyperplasia

Triagem neonatal para hiperplasia adrenal congênita: experiência do estado do Rio de Janeiro

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