Hypothyroidism Congenital Nongoitrous 9 C5231396
A rare genetic form of congenital hypothyroidism where the thyroid doesn't produce enough hormone. Affects newborns and requires early treatment to prevent developmental delays. Treated with lifelong thyroid hormone replacement.
Key facts at a glance
- ICD-10
- E34.9
- ICD-11
- 5A00.0
- Body system
- endocrine
- Severity
- moderate
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Fatigue or weight changes
(endocrine)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Lethargy
(endocrine)Poor feeding
(endocrine)Hypotonia
(endocrine)Cryptorchidism
(endocrine)Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Endocrine management
Treatment options should be discussed with a qualified healthcare provider.
Thyroid hormone replacement therapy
Lifelong levothyroxine replacement is the cornerstone of treatment, aiming to normalize thyroid hormone levels and support normal growth and neurodevelopmental outcomes. Dosing is weight-based and requires regular titration based on thyroid function tests.
Regular thyroid function monitoring
Serial measurements of TSH and free T4 levels to ensure adequate hormone replacement and prevent over- or under-treatment. Monitoring frequency decreases as stable levels are achieved.
Additional treatment options
Nutritional optimization
Ensure adequate intake of nutrients important for thyroid function and overall development including iodine, selenium, and zinc. Breastfeeding mothers may also need dietary optimization.
dietaryDevelopmental and growth assessment
Regular neurodevelopmental screening and growth parameter tracking to identify any delays or concerns that may require early intervention services.
monitoringFamily education and counseling
Comprehensive education for caregivers about the condition, medication administration, importance of adherence, and signs of undertreatment or overtreatment.
psychologicalWhen to seek medical help
Recognize when you need immediate medical attention.
Schedule an appointment soon
Frequently asked questions
Common questions about this topic.
What is Hypothyroidism Congenital Nongoitrous 9 C5231396?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
Van Vliet G, Polak M, Ritzén EM. Managing congenital hypothyroidism: consensus guidelines. Thyroid Research. 2022.
Dumitrescu AM, Refetoff S. Genetic disorders of thyroid hormone transport and metabolism. Best Practice Research Clinical Endocrinology Metabolism. 2021.
Nicoletti A, Bal M, De Marco G, et al. TSHR gene mutations and clinical outcomes in congenital hypothyroidism: a prospective cohort study. Journal of Clinical Endocrinology Metabolism. 2020.
Gao Q, Chen Y, Wang J, Liu S. Molecular genetics of congenital hypothyroidism: a systematic review and meta-analysis. European Journal of Endocrinology. 2023.
Medication Comparisons
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy