X Linked Central Congenital Hypothyroidism With Late Onset Testicular Enlargement C3550963
A genetic condition affecting hormone production, causing thyroid deficiency from birth and later testicular enlargement in males. Managed with hormone replacement therapy.
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
(endocrine)Fatigue or weight changes
(endocrine)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Cold intolerance
(endocrine)Dry skin
(endocrine)Testicular enlargement
(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 to restore euthyroid state and support normal metabolism, growth, and development in central hypothyroidism.
Thyroid function surveillance
Regular monitoring of TSH, free T4, and T3 levels to ensure adequate replacement and prevent over or under-treatment complications.
Additional treatment options
Testicular and reproductive evaluation
Periodic urological assessment and hormonal evaluation of testicular function to detect and manage late-onset testicular enlargement complications.
monitoringNutritional iodine optimization
Dietary counseling to ensure adequate iodine intake supporting thyroid hormone synthesis and overall endocrine function.
lifestyleDevelopmental support therapy
Physical and occupational therapy to support motor development and address any delays associated with untreated hypothyroidism.
physical_therapyWhen 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 X Linked Central Congenital Hypothyroidism With Late Onset Testicular Enlargement C3550963?
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.
Persani L, Cangiano B, Bonomi M. The diagnosis and management of central hypothyroidism: 2023 European Thyroid Association Guidelines. Eur Thyroid J. 2023.
Schoenmakers N, Chatterjee VK. Genetic basis of congenital central hypothyroidism. Nat Rev Endocrinol. 2022.
Rabold N, Pfaeffle R, Blankenstein O. Clinical characterization of patients with X-linked congenital central hypothyroidism carrying IGSF1 mutations. J Clin Endocrinol Metab. 2021.
Nakamoto Y, Fukuzaki J, Tajima T. Testicular enlargement in congenital hypothyroidism: a longitudinal cohort study. Horm Res Paediatr. 2020.
Medication Comparisons
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Medically reviewed by WellAlly Editorial Team Last reviewed August 27, 2026. · Read our editorial policy