hrp0086p1-p32 | Adrenal P1 | ESPE2016

Molecular Confirmatory Test Improves the Accuracy of Congenital Adrenal Hyperplasia Diagnosis in Newborn Screening Program

Miranda Mirela , Santos Eliane dos , Carvalho Daniel de , Rodrigues Andressa , Nader Ivana , Junior Joao Amelio , Mendonca Berenice , Bachega Tania

Background: Newborn screening for CAH is effective in identifying the severe cases; however, the high rate of false-positive (FPR) results remains an important issue. Therefore, positive neonatal results must be confirmed by serum 17OHP levels, which present a great overlap among all forms.Objective and hypotheses: To evaluate the utility of molecular analysis to improve CAH diagnosis in NBS program.Method: Between 1999 and 2014, 8...

hrp0086p1-p552 | Perinatal Endocrinology P1 | ESPE2016

Congenital Adrenal Hyperplasia Newborn Screening: Improving the Effectiveness of the Neonatal 17OH-Progesterone and Serum Confirmatory Tests

Carvalho Daniel , Hayashi Giselle , Miranda Mirela , Valassi Helena , Alves Atecla , Rodrigues Andresa , Gomes Larissa , Madureira Guiomar , Mendonca Berenice , Bachega Tania

Background: Main concerns of Congenital Adrenal Hyperplasia Newborn Screening (CAH-NBS) are the high false-positive results (FPR) rate, low positive predictive value (PPV) and heterogeneity of confirmatory tests. Considering the CAH-NBS implementation in our country, our.Objectives: Objectives are to optimize the Neonatal 17OH-Progesterone (N17OHP) cutoffs and to evaluate the best serum confirmatory test.Methods: 473 983 newborns w...

hrp0086p1-p38 | Adrenal P1 | ESPE2016

Twenty Years Experience in Congenital Adrenal Hyperplasia: Clinical, Hormonal and Molecular Characteristics in a Large Cohort

Miranda Mirela , Carvalho Daniel , Gomes Larissa , Madureira Guiomar , Marcondes Jose , Billerbeck Ana Elisa , Rodrigues Andressa , Presti Paula , Kuperman Hilton , Damiani Durval , Medonca Berenice , Bachega Tania

Background: Most congenital adrenal hyperplasia (CAH) patients carry mutations derived from conversion events involving the pseudogene, and the remaining carry new mutations varying according to ethnicity. A good genotype-phenotype correlation is observed, allowing the use of molecular analysis in clinical practice.Objective and hypotheses: To review the molecular diagnosis in a large cohort of CAH patients in order to create a diagnostic panel in our po...

hrp0095lb18 | Late Breaking | ESPE2022

Efficacy of liquid-chromatography and radioimmunoassay in false-positives’ drop-off in CAH newborn screening

Carvalho Daniel , Lima-Valassi Helena , Alves Atecla , Miranda Mirela , Rodrigues Andressa , Hayashi Giselle , Madureira Guiomar , Steinmetz Leandra , Damiani Durval , Mendonca Berenice , Bachega Tania

The high rate of false-positive (FP) results in congenital adrenal hyperplasia newborn screening (CAH-NBS) worldwide challenges NBS-programs and reinforces the need of high specificity subsequent tests. Few studies assessed the efficacy of different serum steroids by the available methodologies. Serum 21-deoxycortisol-21DF demonstrated a high diagnostic accuracy in CAH children/adults but was not evaluated in the NBS context. Objective: to evaluate the efficacy of confirmatory...

hrp0094p1-8 | Adrenal A | ESPE2021

Long-term Cardiometabolic Morbidity In Young Adults With Classic 21-Hydroxylase Deficiency Congenital Adrenal Hyperplasia

Righi Beatrice , Ali Salma R , Bryce Jillian , Tomlinson Jeremy W , Bonfig Walter , Baronio Federico , Costa Eduardo C , Filho Guilherme Guaragna , T’Sjoen Guy , Cools Martine , Markosyan Renata , Bachega Tania A S S , Miranda Mirela C , Iotova Violeta , Falhammar Henrik , Ceccato Filippo , Stancampiano Marianna R , Russo Gianni , Vukovic Rade , Giordano Roberta , Mazen Inas , Guven Ayla , Darendeliler Feyza , Poyrazoglu Cukran , Vries Liat de , Ellaithi Mona , Daniel Eleni , Johnston Colin , Hunter Steven J , Carroll Paul V , Adam Safwaan , Perry Colin G , Kearney Tara , Abraham Prakash , Rees D Aled , Leese Graham P , Reisch Nicole , Stikkelbroeck Nike M M L , Auchus Richard J , Ross Richard J , Ahmed S Faisal ,

Background: Congenital adrenal hyperplasia (CAH) and long-term glucocorticoid treatment may be associated with an increased risk of developing cardiometabolic sequelae such as abnormal glucose homeostasis, hyperlipidaemia, hypertension, cardiovascular (CV) disease, obesity and osteoporosis.Objectives: To study the current practice amongst expert centres for assessing cardiometabolic outcomes in adult patients with 21-hyd...