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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.
Journal of Medical Genetics
|March 1, 1991
Summary
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.