ESPE2015 Poster Category 3 Thyroid (64 abstracts)
Clinical Course in a Girl with hTPO Mutation R161I in Exon 5: 18 Years of Follow-Up
Iva Stoeva a , Petra Ambrugger b , Boris Stoilov a , Ganka Dineva a , Heike Biebermann b & Annette Grueters b
aUniversity Pediatric Hospital Sofia, Medical University Sofia, Sofia, Bulgaria; bResearch Laboratory, Institute Experimental Pediatric Endocrinology, Charite, Berlin, Germany
Background: Of the several genetic defects responsible for thyroid dyshormonogenesis, mutations in TPO gene are the most prevalent causes of inherited defects in CH. Prevalent mutations are in exons 8–11 (catalytic site).
Case presentation: Girl, born at term (s.c) picked up by TSH screening and start of LT4 treatment at d14 with 14 μg/kg per day (table 1), clinical signs: no goiter, hypotonia, dry skin, posterior fontanel >5 mm, obstipation, delayed bone age (32–33 gw), feeding difficulties. Euthyroidism achieved at d 27, good adherence with the therapy during entire follow up (frequent thyroid ultrasound, TSH, fT4, auxology, bone age). Normal physical growth and development according to the genetic potential. Mental development: normal, high academic achievements. Candidate for hTPO molecular genetic studies based on permanent severe CH, orthotopic thyroid and high thyroglobulin levels. An uncommon homozygous mutation in exon 5, R161I was determined by dHPLC after reevaluation. Twice (at 9 and 12 years) a significant thyroid enlargement along with TSH elevation (12–20 mU/l) and low-normal fT4 (9.6–12.4 pmol/l) was evident. Bone age variations – 1 years ahead of the chronological during puberty.
| Age | NTSH mu/l | TSH mU/l | T4 nmol/l | Tg ng/ml |
| 4 days | 297 | |||
| 14 days | 681 | 1120 | <25 | 547 |
| 2 years | 300 | 463 | <25 | 211.6 |
| 3 months |
Conclusion: An earlier molecular genetic analysis would have prevented the reevaluation; in order to prevent thyroid enlargement a more frequent TSH monitoring is indicated, especially in puberty. The increased risk for thyroid cancer should be kept in mind.
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