Table 1.

Situations in Which Genetic Counseling Should Be Proposed

I. Pregnant women

Positive family history for nonsyndromic CH

Dyshormonogenesis (previously affected child) (1/+++)

Dysgenesis (at least one member of the family) (2/++0)

Positive family history of syndromic CH with:

Neurological disorders, including unexplained intellectual impairment

Deafness

Congenital heart disease, surfactant deficiency syndrome

Cleft palate

Kidney malformations

Any sign of Albright hereditary osteodystrophy (GNAS mutation) (1/++0)

Unexplained abnormality of T4, T3, or TSH levels in family members (mild forms of CH) (2/++0)

II. Infant or child with CH (2/++0)

Subject with

Deafness

Neurological signs (hypotonia, choreoathetosis, intellectual disability)

Lung disorders (surfactant deficiency syndrome, interstitial lung disease)

Congenital heart disease

Cleft palate

Kidney malformations

Any sign of Albright hereditary osteodystrophy (GNAS mutation)

Family history

Consanguinity

Kidney malformations

Deafness

Specific malformations (as already listed)

Unexplained intellectual impairment despite adequate treatment of CH in family members

Any sign of Albright hereditary osteodystrophy (GNAS mutation)

CH, congenital hypothyroidism; T3, triiodothyronine; T4, thyroxine; TSH, thyrotropin.