Prenatal Diagnosis and Management of a Fetal Goiter Hypothyroidism due to Dyshormonogenesis

被引：12

作者：

Figueiredo, Catarina Matos ^{[1
]}

Falcao, Ines ^{[1
]}

Vilaverde, Joana ^{[2
]}

Freitas, Joana ^{[1
]}

Oliveira, Maria Joao ^{[1
]}

Godinho, Cristina ^{[3
]}

Dores, Jorge ^{[2
]}

Rodrigues, Maria Ceu ^{[4
]}

Carvalho, Carmen ^{[3
]}

Borges, Teresa ^{[1
]}

机构：

[1] Ctr Hosp Univ Porto, Ctr Materno Infantil Norte, Dept Pediat, Pediat Endocrinol Unit, Oporto, Portugal

[2] Ctr Hosp Univ Porto, Ctr Materno Infantil Norte, Endocrinol Diabet & Metab Dept, Oporto, Portugal

[3] Ctr Hosp Univ Porto, Ctr Materno Infantil Norte, Neonatal Intens Care Unit, Neonatol & Pediat Intens Care Dept, Oporto, Portugal

[4] Ctr Hosp Univ Porto, Ctr Materno Infantil Norte, Obstet Dept, Prenatal Diag Unit, Oporto, Portugal

来源：

CASE REPORTS IN ENDOCRINOLOGY | 2018年 / 2018卷

关键词：

D O I：

10.1155/2018/9564737

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Fetal goiter is a rare disorder not expected to be found during a healthy woman's pregnancy. It can be a prenatal manifestation of congenital hypothyroidism due to thyroid dyshormonogenesis and it can lead to serious perinatal complications. A vascularized fetal neck mass was detected at 29 weeks' gestation of a healthy primigravida. Magnetic resonance was suggestive of goiter causing airway deviation without polyhydramnios. Maternal thyroid function was normal and thyroid antibodies were negative. Two intra-amniotic levothyroxine infusions were performed at 32 and 33 weeks. Serial imaging control showed no progression of the mass. Elective caesarean section was performed at 38 weeks. The male newborn was admitted to the intensive care unit due to cardiorespiratory insufficiency with pulmonary hypertension. Hormonal assays revealed primary congenital hypothyroidism and ultrasonography confirmed diffuse goiter. Levothyroxine was started. Currently, he is 6 years old with adequate growth and normal psychomotor development. Genetic study found a heterozygous mutation in the TPO gene.

引用

页数：4