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The CHARGE association and athyreosis
J F Marín1, B García, A Quintana
1Department of Paediatric Endocrinology, Hospital Ramón y Cajal, Madrid, Spain.
Insights
This study describes a male infant with congenital hypothyroidism due to athyreosis, a condition previously unlinked to CHARGE association. This rare co-occurrence highlights a novel connection between these two distinct medical conditions.
Area of Science:
- Pediatric Endocrinology
- Medical Genetics
- Developmental Biology
Background:
- Congenital hypothyroidism (CH) is a common endocrine disorder in newborns.
- CHARGE association is a complex genetic disorder with multiple congenital anomalies.
- Athyreosis, the absence of a thyroid gland, is a primary cause of CH.
Observation:
- A male infant presented with congenital hypothyroidism due to athyreosis.
- The infant also exhibited features of the CHARGE association, including bilateral papillary coloboma, congenital heart disease, dysmorphic ears, sensorineural deafness, psychomotor retardation, cryptorchidism, facial palsy, and vesicoureteral reflux.
Findings:
- This is the first reported case of athyreosis-associated congenital hypothyroidism occurring concurrently with the CHARGE association.
- The coexistence of these two distinct conditions in a single patient is a novel observation.
Implications:
- This case expands the known phenotypic spectrum of CHARGE association.
- It suggests a potential, previously unrecognized, genetic or developmental link between athyreosis and CHARGE association.
- Further research is warranted to explore the underlying mechanisms connecting these conditions.
Abstract:
We report on a male infant with congenital hypothyroidism owing to athyreosis occurring with the CHARGE association (bilateral papillary coloboma, congenital heart disease, dysmorphic ears, sensorineural deafness, psychomotor retardation, cryptorchidism, facial palsy, and vesicoureteral reflux). The coexistence of these two disorders has not been described previously.