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Patients develop hypothyroidism with a goiter. ... This is due to inability to produce thyroid hormones due to congenital absence of peroxidase or dehalogenase enzymes
Congenital hypothyroidism is the most common preventable cause of intellectual disability. Few treatments in the practice of medicine provide as large a benefit for as small an effort. The developmental quotient (DQ, as per Gesell Developmental Schedules ) of children with hypothyroidism at age 24 months that have received treatment within the ...
Thyroid dysgenesis is a cause of congenital hypothyroidism [1] where the thyroid is missing (thyroid agenesis), ectopic, or severely underdeveloped.It should not be confused with iodine deficiency, or with other forms of congenital hypothyroidism, such as thyroid dyshormonogenesis, where the thyroid is present but not functioning correctly.
Congenital iodine deficiency syndrome (CIDS), also called cretinism, [2] is a medical condition present at birth marked by impaired physical and mental development, due to insufficient thyroid hormone production (hypothyroidism) often caused by insufficient dietary iodine during pregnancy.
List of ICD-9 codes 740–759: congenital anomalies; Rare disease This page was last edited on 28 September 2024, at 13:01 (UTC). Text is available under the Creative ...
Pendred syndrome is a genetic disorder leading to congenital bilateral (both sides) sensorineural hearing loss and goitre with euthyroid or mild hypothyroidism (decreased thyroid gland function). There is no specific treatment, other than supportive measures for the hearing loss and thyroid hormone supplementation in case of hypothyroidism.
This category reflects the organization of International Statistical Classification of Diseases and Related Health Problems, 10th Revision. Generally, diseases outlined within the ICD-10 codes Q00-Q99 within Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities should be included in this category.
Pseudohypoparathyroidism is a rare autosomal dominant genetic condition associated primarily with resistance to the parathyroid hormone. [1] Those with the condition have a low serum calcium and high phosphate, but the parathyroid hormone level (PTH) is inappropriately high (due to the low level of calcium in the blood).