Congenital hypothyroidism: a case report of an Egyptian child with congenital heart disease, pelvic kidney and cavernous transformation of portal vein

Background A case of thyroid hormone deficiency which presented at birth. Thyroid hormones are essential for brain development and normal cognitive function. Common symptoms of congenital hypothyroidism (CH) include constipation, decreased activity, increased sleep and feeding difficulty. Common sig...

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Bibliographic Details
Published in:Egyptian Journal of Medical Human Genetics 2023-12, Vol.24 (1), p.28-7
Main Authors: Elsedfy, Heba, Gamal, Radwa
Format: Article
Language:English
Subjects:
Abdomen
Birth
Bones
Care and treatment
Case reports
Cavernous transformation of portal vein
Cognitive ability
Congenital defects
Congenital diseases
Congenital heart disease
Congenital hypothyroidism
Constipation
Family medical history
Genetic disorders
Heart diseases
Heart failure
Hernia
Hernias
Hypertension
Hypothyroidism
Intellectual disabilities
Kidney diseases
Kidneys
Liver
Liver cirrhosis
Liver diseases
Patients
Pediatric cardiology
Portal vein
Skin
Thrombosis
Thyroid gland
Thyroid hormones
Ultrasonic imaging
Veins & arteries
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Summary:Background A case of thyroid hormone deficiency which presented at birth. Thyroid hormones are essential for brain development and normal cognitive function. Common symptoms of congenital hypothyroidism (CH) include constipation, decreased activity, increased sleep and feeding difficulty. Common signs include dry skin, macroglossia and umbilical hernia. If congenital hypothyroidism is left untreated after birth, it can lead to permanent intellectual disability and growth failure. Case presentation. Here, we report a 10.5-year-old female with the typical features of CH. She is the sixth in order of birth of consanguineous Egyptian parents. No family history of similar condition. Our patient had primary CH caused by thyroid agenesis. She had congenital heart disease, pelvic kidney, cavernous transformation of portal vein and parenchymatous liver disease. Conclusions Congenital hypothyroidism is associated with an elevated risk of congenital anomalies. Clinical suspicion of symptoms and signs of congenital hypothyroidism are important for early diagnosis and prevention of serious problems that are related to congenital hypothyroidism.
ISSN:1110-8630
2090-2441
DOI:10.1186/s43042-023-00407-z