AI Article Synopsis
- A case of a fetus diagnosed prenatally with classical congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is discussed, highlighting the importance of early diagnosis and care.
- The interdisciplinary approach, involving perinatology, endocrinology, genetic counseling, psychology, and urology, allowed for better management and support for the family.
- Fetal MRI combined with ultrasound revealed significant brain anomalies, indicating a need for further investigation into neurological issues associated with CAH from a prenatal perspective.
Article Abstract
We report a case of a fetus with a prenatal diagnosis of classical congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency. Although CAH is typically assessed postnatally, this fetal case had multiple prenatal clinical assessments made feasible by an interdisciplinary CAH center. The approach facilitated the development and delivery of comprehensive and earlier care for the fetus, and the family living with this complex, congenital condition, with perinatology, endocrinology, genetic counseling, psychology, and urology involvement. As well, the addition of fetal MRI to standard ultrasound revealed significant deficits in the biparietal diameter, occipitofrontal diameter, and total intracranial volume of the fetal CAH brain. These early anomalies in the brain suggest that neurological comorbidities observed in older children and adults with CAH should be studied as early as prenatally, with the addition of fetal MRI to ultrasound potentially being useful for identifying and understanding prenatal anomalies in CAH.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9344108 | PMC |
| http://dx.doi.org/10.1177/23247096221105245 | DOI Listing |
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