First newborn diagnosed in Catalonia with congenital adrenal hyperplasia thanks to neonatal screening at the SJD Barcelona Children's Hospital

Staff from the Pediatric Endocrinology Department at the SJD Barcelona Children's Hospital have diagnosed a case of classic congenital adrenal hyperplasia (the most severe form) in a newborn for the first time ever. As of this month, July, the disease was added to the newborn blood spot test, or heel prick test, coordinated and financed by the Generalitat de Catalunya's Department of Health.

Congenital adrenal hyperplasia (CAH) is a rare genetic disorder that appears in around one in 10,000-20,000 live births which causes the body to not produce the cortisol hormone. This deficiency can have serious repercussions for infants, even leading to death in some cases.

The classic forms of this disease, which are the most severe, can be detected through neonatal screening, by measuring levels of 17-Hydroxyprogesterone. As such, from 1 July 2024, all babies born in Catalonia who undergo a heel prick test will also be tested for this hormone.  

The heel prick test consists of taking a blood sample from the newborn in the first 24-72 hours of life to test for the 26 diseases included in the screening programme.

The Neonatal Screening Laboratory at Hospital Clínic analyses blood samples sent from maternity wards all over Catalonia. If any samples are found positive for CAH, the case is referred to one of two units of clinical expertise in this disease, designated as such by the Catalan Health Service, which are members of the European Reference Network for endocrine diseases. Depending on where the patient lives, they will be referred to either the SJD Barcelona Children's Hospital or to the Vall d’Hebron University Hospital.

The first newborn diagnosed with CAH thanks to neonatal screening has been attended to and treated at the SJD Barcelona Children's Hospital. The boy was born at the end of June in L’Hospitalet de Llobregat.

Marta Ramon Krauel, Head of the Endocrinology Department at the SJD Barcelona Children's Hospital notes that ‘thanks to seamless coordination and the speed at which the various institutions involved have acted, we have managed to diagnose and treat this boy by the time he was seven days old. The aim is to begin treatment before the baby reaches 14 days old in order to avoid more severe risks. The hospital where he was born took the blood sample, then sent it to Hospital Clínic, who analysed it and confirmed the positive result. Then the case was referred to us: we scheduled an appointment for the patient, provided a definitive diagnosis, and began treatment. All of that in just one week.’

The boy was treated with hydrocortisone, fludrocortisone and salt supplementation. Marta Ramon reiterates the importance of early diagnosis and treatment for these newborns. ‘Unlike baby girls, with baby boys, if a screening is not performed, pediatricians have no way of diagnosing the disease until the first symptoms appear. This happens at around three weeks old with an adrenal crisis, a medical emergency that poses a serious threat to life,’ she notes.