Simpson-Golabi-Behmel syndrome type 1 with subclinical hypothyroidism: A case report.

ABSTRACT:

Rationale

Simpson-Golabi-Behmel syndrome type 1 (SGBS1) is caused by mutations in GPC3 or in both GPC3 and GPC4. Physical manifestations of SGBS1 include fetal overgrowth and macrostomia, macroglossia. Subclinical hypothyroidism has never been reported in SGBS1 cases.

Patient concerns

An 8-days-old boy was referred to our hospital with persistent hypoglycemia and special facies. And the infant showed elevated levels of thyroid-stimulating hormone (TSH). Free T4 and free T3 were normal.

Diagnoses

Definitive diagnosis of SGBS1 depends on clinical features and genetic testing. A nonsense mutation (c.1515C > A, p. Cys505*) was tested by whole-exome sequencing.

Interventions

Normal blood glucose levels were maintained with glucose infusions. Levothyroxine was given

SUBMITTER: Zhang J 

PROVIDER: S-EPMC6824639 | biostudies-literature | 2019 Oct

REPOSITORIES: biostudies-literature