Foetal goitrous hypothyroidism — easy to recognise, difficult to treat. Is combined intra-amniotic and intravenous L-thyroxine therapy an option?
Abstract
Introduction: Foetal hypothyroidism negatively impacts somatic and neurological child development and can be the cause of serious obstetric and perinatal complications. We present a rare case of a large foetal dyshormonogenetic goitre, causing foetal neck hyperextension, oesophageal compression, and cardiac high-output failure.
Material and methods: A foetal goitre complicated by cardiomegaly and polyhydramnios was diagnosed at 23 weeks of gestation (WG) on a routine ultrasonographic (US) assessment in a healthy nullipara. Foetal blood sampling was performed and a severe foetal hypothyroidism was diagnosed. Treatment was undertaken with an intra-amniotic followed by combined intra-amniotic and intravenous injections of L-thyroxine (L–T4). A total of 11 doses of L–T4 were administered between 24–37 WG to the foetus.
Results: A complete regression of foetal goitre, cardiomegaly, and polyhydramnios was observed. At 38 WG the patient delivered vaginally a male infant with mild hypothyroidism and no signs of goitre or cardiomegaly on postnatal US. Neurological development of the one year old baby is normal.
Conclusions: The effective diminishing of serum TSH concentration and goitre size was reached after combined intra-amniotic and intravenous L–T4 injections were given. L–T4 requirement in the foetus is equal to or above 15 μg/kg daily and should be given in weekly intervals due to its rapid metabolism by the foetus and by placental type 3 deiodinase. Intra-amniotic L–T4 administration may be ineffective when a large goitre indisposes amniotic fluid swallowing by the foetus, so then the combined L–T4 injections into the umbilical vein and intra-amniotically in experienced hands seems to be a reasonable and effective option.
Keywords: foetal goitredyshormonogenesisL-thyroxine in utero treatment
References
- Luton D, Le Gac I, Vuillard E, et al. Management of Graves' disease during pregnancy: the key role of fetal thyroid gland monitoring. J Clin Endocrinol Metab. 2005; 90(11): 6093–6098.
- Stagnaro-Green A, Abalovich M, Alexander E, et al. American Thyroid Association Taskforce on Thyroid Disease During Pregnancy and Postpartum. Guidelines of the American Thyroid Association for the diagnosis and management of thyroid disease during pregnancy and postpartum. Thyroid. 2011; 21(10): 1081–1125.
- Alexander EK, Pearce EN, Brent GA, et al. 2017 Guidelines of the American Thyroid Association for the Diagnosis and Management of Thyroid Disease During Pregnancy and the Postpartum. Thyroid. 2017; 27(3): 315–389.
- Léger J, Olivieri A, Donaldson M, et al. ESPE-PES-SLEP-JSPE-APEG-APPES-ISPAE, Congenital Hypothyroidism Consensus Conference Group. European Society for Paediatric Endocrinology consensus guidelines on screening, diagnosis, and management of congenital hypothyroidism. J Clin Endocrinol Metab. 2014; 99(2): 363–384.
- Gietka-Czernel M, Dębska M, Kretowicz P, et al. Fetal thyroid in two-dimensional ultrasonography: nomograms according to gestational age and biparietal diameter. Eur J Obstet Gynecol Reprod Biol. 2012; 162(2): 131–138.
- Hume R, Simpson J, Delahunty C, et al. Scottish Preterm Thyroid Group. Human fetal and cord serum thyroid hormones: developmental trends and interrelationships. J Clin Endocrinol Metab. 2004; 89(8): 4097–4103.
- Thorpe-Beeston JG, Nicolaides KH, McGregor AM. Fetal thyroid function. Thyroid. 1992; 2(3): 207–217.
- Kostecka-Matyja M, Fedorowicz A, Bar-Andziak E, et al. Reference Values for TSH and Free Thyroid Hormones in Healthy Pregnant Women in Poland: A Prospective, Multicenter Study. Eur Thyroid J. 2017; 6(2): 82–88.
- Ribault V, Castanet M, Bertrand AM, et al. French Fetal Goiter Study Group. Experience with intraamniotic thyroxine treatment in nonimmune fetal goitrous hypothyroidism in 12 cases. J Clin Endocrinol Metab. 2009; 94(10): 3731–3739.
- Perrotin F, Sembely-Taveau C, Haddad G, et al. Prenatal diagnosis and early in utero management of fetal dyshormonogenetic goiter. Eur J Obstet Gynecol Reprod Biol. 2001; 94(2): 309–314.
- Francois A, Hindryckx An, Vandecruys H, et al. Fetal treatment for early dyshormonogenetic goiter. Prenat Diagn. 2009; 29(5): 543–545.
- Abuhamad AZ, Fisher DA, Warsof SL, et al. Antenatal diagnosis and treatment of fetal goitrous hypothyroidism: case report and review of the literature. Ultrasound Obstet Gynecol. 1995; 6(5): 368–371.
- Mayor-Lynn KA, Rohrs HJ, Cruz AC, et al. Antenatal diagnosis and treatment of a dyshormonogenetic fetal goiter. J Ultrasound Med. 2009; 28(1): 67–71.
- Perelman AH, Johnson RL, Clemons RD, et al. Intrauterine diagnosis and treatment of fetal goitrous hypothyroidism. J Clin Endocrinol Metab. 1990; 71(3): 618–621.
- Börgel K, Pohlenz J, Holzgreve W, et al. Intrauterine therapy of goitrous hypothyroidism in a boy with a new compound heterozygous mutation (Y453D and C800R) in the thyroid peroxidase gene. A long-term follow-up. Am J Obstet Gynecol. 2005; 193(3 Pt 1): 857–858.
- Corral E, Reascos M, Preiss Y, et al. Treatment of fetal goitrous hypothyroidism: value of direct intramuscular L-thyroxine therapy. Prenat Diagn. 2010; 30(9): 899–901.
- Agrawal P, Ogilvy-Stuart A, Lees C. Intrauterine diagnosis and management of congenital goitrous hypothyroidism. Ultrasound Obstet Gynecol. 2002; 19(5): 501–505.
