ESPE2015 Poster Category 3 Thyroid (64 abstracts)
A Familial Case of Congenital Hypothyroidism due to a Mutation in the Thyroglobulin Gene Detected by Next Generation Sequencing
Maria Cristina Vigone a , Elena Peroni a , Gaia Vincenzi a , Giulia Gelmini b , Tiziana de Filippis b , Fulvio Sileo d , Luca Persani b, & Giovanna Weber a
aDepartment of Pediatrics, San Raffaele Scientific Institute, Vita-Salute University, Milan, Italy; bLaboratory of Endocrine and Metabolic Research, IRCCS Istituto Auxologico Italiano, Milan, Italy; cDepartment of Clinical Sciences and Community Health, University of Milan, Milan, Italy; dDepartment of Endocrinology, Papa Giovanni XXIII Hospital, Bergamo, Italy
Background: Congenital hypothyroidism (CH) is a heterogeneous disorder. While the great majority of cases are considered sporadic, the use of next generation sequencing (NGS) may bring significant advances in elucidating the underlying molecular mechanisms.
Case presentation: We selected a family with three children affected by CH with gland in situ and diagnosed at neonatal screening: the index patient, his sister and his brother. Data at diagnosis and follow-up are listed in the Table 1. They present an important familiarity for thyroid diseases. The mother and her sister have a multinodular goiter in euthyroidism without anti-thyroid antibodies; the mother’s thyroglobulin (TG) level is 126 ng/ml (range 0–60 ng/ml). In addition, the maternal grandfather developed a multinodular goiter with a Plummer adenoma requiring thyroidectomy. All family members have an adequate dietary iodine intake. NGS analysis revealed a heterozygous missense mutation (p.P118L) in the TG gene of the three siblings and of their mother. The other analyzed genes (NKX2-1, PAX8, FOXE1, GLIS3, DUOX2, DUOXA2, SLC26A4, TPO, TSHR, and JAG1) resulted WT.
| Patient | I spot TSH (mcIU/ml) | Serum TSH (mcIU/ml) | Serum FT4 (ng/dl) | Thyroglobulin (ng/ml) | US | L-thyroxine therapy at diagnosis | Re-evaluation | Range of TSH values without therapy (mcIU/ml) |
| Index patient (2013) | 10.01 | 16.9–11.07 | 1.2–1.07 | 189 (0.2–55) | Normal | No | No | 5.6–11.7 |
| Sister (2005) | 12.5 | 42.8 | 1.15 | 148 (0.2–55) | Normal | Yes | Stopped L-T4 | 7.32–14.71 |
| Brother (2002) | 10.7 | 19.51 | 1.1 | 34.8 (1–75) | Normal | Yes | Stopped L-T4 | 6.39–10.25 |
Conclusions: According to the identification of the genetic variant in TG with a strong positive family history for multinodular goiter, an adequate ultrasound follow-up and a tailored therapeutic strategy are needed. Indeed, these patients could benefit from hormone replacement therapy with levothyroxine, even in case of a mild increase in TSH concentrations, in order to avoid thyroid surgery in the future.
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