Severe thyrotoxicosis in an infant revealing familial nonautoimmune hyperthyroidism with a novel (C672W) stimulating thyrotropin receptor germline mutation

Oliver‐Petit, Isabelle; Savagner, Frédérique; Grunenwald, Solange; Vialon, M.; Edouard, Thomas; Caron, Philippe

doi:10.1002/ccr3.1178

Cited by 2 publications

(2 citation statements)

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“…Thus far, the natural course of FNAH has remained unclear, especially during the prenatal period and early life. Although 1 study had presented a case of FNAH diagnosed at 20 months old with tachycardia; however, the clinical record showed that the patient was born through emergency caesarian section at 35 weeks of gestation due to fetal tachycardia (9). This indicated that the patient would have already had hyperthyroidism at 35 weeks of gestation.…”

Section: Discussionmentioning

confidence: 98%

“…This indicated that the patient would have already had hyperthyroidism at 35 weeks of gestation. In addition, 10 cases had been reported to have been diagnosed up to 1 year after the birth in families with FNAH (7,(9)(10)(11)(12)(13)(14)(15). Symptoms leading to the diagnosis of hyperthyroidism included diarrhea, loss of body weight, and tachycardia.…”

Section: Discussionmentioning

confidence: 99%

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A Case of Familial Nonautoimmune Hyperthyroidism During Pregnancy

Okazaki

Arata

Umehara

et al. 2020

AACE Clinical Case Reports

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Objective: Familial nonautoimmune hyperthyroidism (FNAH) is a rare disease. To date there are few, if any, reports of pregnancies in women with FNAH. Our objective here is to present such a case. Methods: Free thyroxine (free T4), free triiodothyronine (free T3), thyroid-stimulating hormone (TSH), and antibodies related to the thyroid were measured. Fetal thyroid function indicators including thyroid volume and ossification were checked using ultrasound. Thyroid-stimulating hormone receptor (TSHR) gene analyses were performed. Results: The patient was a 30-year-old woman with no past medical history. She was introduced to our hospital in the fifth gestational week for pregnancy care because her family history revealed that her mother had nonautoimmune hyperthyroidism with a TSHR-activating germ-line mutation (Asn406Ser). The serum free T4 was 1.88 ng/dL (normal, 0.62 to 1.19 ng/dL), free T3 was 3.27 pg/mL (normal, 2.55 to 3.88 pg/mL), TSH was 0.02 μIU/mL (normal, 0.007 to 3.619 μIU/mL), and TSHR was negative which were considered to be consistent with mild primary hyperthyroidism. Serum free T4, free T3, and TSH concentrations were monitored every 4 to 6 weeks with a peak free T4 of 2.23 ng/dL noted at gestational week 9. The patient had no signs related to hyperthyroidism throughout pregnancy. The patient delivered a 3,518 g girl at 40 weeks of gestation. Genetic analysis of her TSHR gene showed heterozygous Asn406Ser mutation. The offspring did not show any signs of prenatal hyperthyroidism, and thyroid function at day 6 after delivery revealed a free T4 of 2.41 ng/dL (normal, 1.83 to 2.91 ng/dL) and a TSH of 3.55 μIU/mL (normal, 0.51 to 4.57 μIU/mL). Conclusion: Women with FNAH and mild thyrotoxicosis prior to pregnancy may have continuous hyperthyroidism with additional change due to the series of human chorionic gonadotropin secretion during pregnancy.

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Section: Discussionmentioning

confidence: 98%