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[Missed diagnosis: a case of congenital hypothyroidism treated after three years]
D Dinetti1, C Giachetti, E Romolini
1Istituto di Clinica Pediatrica, IRCCS Stella Maris INPE, Università degli Studi, Pisa.
Insights
Congenital hypothyroidism (CH) is a leading cause of preventable intellectual disability. Early diagnosis and treatment of CH in newborns significantly improve outcomes, preventing permanent neurological damage.
Area of Science:
- Pediatrics
- Endocrinology
- Neonatal care
Background:
- Congenital hypothyroidism (CH) is a significant cause of preventable intellectual disability.
- Thyroid hormone deficiency during fetal development and early infancy can lead to irreversible neurological damage.
- Effective management of CH relies on early diagnosis and prompt initiation of thyroid hormone replacement therapy.
Observation:
- The Italian national screening program for CH aims for diagnosis and treatment within the first month of life.
- Implementation of CH screening programs has been inconsistent across Italian regions, leading to delayed diagnoses in some areas.
- A case study involved a three-year-old girl with CH diagnosed late, presenting with clear hypothyroid symptoms and developmental delays.
Findings:
- The patient exhibited delayed developmental milestones at age three due to undiagnosed congenital hypothyroidism.
- Following the initiation of pharmacological treatment, the child demonstrated substantial improvements in growth, language, and motor skills.
- Neuropsychological assessments revealed significant amelioration in cognitive functions, though some permanent deficits may persist.
Implications:
- This case underscores the critical importance of universal and timely newborn screening for congenital hypothyroidism.
- Delayed diagnosis and treatment of CH can lead to lasting neurodevelopmental impairments.
- Early intervention is crucial for optimizing developmental trajectories in infants with congenital hypothyroidism, maximizing potential and minimizing long-term disability.
Abstract:
Congenital hypothyroidism (CH) is the most common cause of preventable mental retardation. Thyroid hormone deficiency in utero and in the first neonatal months is responsible for permanent damage. While foetal hypothyroidism is at present unavoidable, earlier diagnosis and initiation of treatment in neonates with CH is important and highly recommended. At the moment, the Italian screening program for CH allows diagnosis and treatment within the first month of life. In Italy, screening programs became obligatory only a short time ago. In some regions, they started a few years ago, whereas in others they have been carried out only in an irregular way and only a part of the population has been investigated. Therefore CH was diagnosed just on the basis of clinical signs, with a consequent delay in the initiation of substitutive therapy. We describe the case of a little girl with CH diagnosed when she was three years old. We report the results of this case follow-up study and we describe the features of her neuropsychological development to point out her improvement and permanent disorders. The little girl was clearly hypothyroid with delayed achievement at three, but with pharmacological treatment she showed a dramatic amelioration in growth, language, motor skills and cognitive performances.