Background: KlippelFeil syndrome (KFS) is characterized by congenital fusion of cervical vertebrae and has a prevalence of 1:50 000. The phenotypic expression is variable, sometimes presenting with extraskeletal symptoms.
Case report: A girl was referred at the cronological age (CA) of 10.3 years with a suspected diagnosis of Turner syndrome, due to the presence of webbed neck and progressive deceleration of growth velocity. The girl, born in Russia, was adopted by an Italian family at the CA of 14 months. Clinical examination showed short neck, bilateral thelarche Tanner stage II, pubarche Tanner stage II, hyperlordosis and valgus elbow. The height was 134 cm (10°25° ct), weight 28 kg (10° ct) and head circumference 55 cm. Pelvic ultrasound showed the presence of normal uterus and ovaries. Due to the presence of pubertal development and normal uterus and ovaries, karyotype was not performed. Surprisingly, investigations showed markedly elevated TSH values (>75 μU/ml, range 0.44.0) and low values of FT3 (2.5 pg/ml, range 2.53.9) and FT4 (4.1 pg /ml, range 5.816.4). Serum antitireoglobulin and antiperoxidase antibodies were both elevated: ATG >3000 U/ml (range <45), ATPO 298 U/ml (range<35). Thyroid ultrasound showed increased thyroid size with markedly heterogeneous echogenicity, hypervascularization and slightly thickened isthmus. The patient was started on thyroid replacement therapy (Eutirox). Due to the presence of short neck, cervical X-ray was also performed: the images showed fusion of the cervical vertebrae C2 and C3, confirming the suspect of a KlippelFeil syndrome.
Conclusion: To our knowledge, association of KFS with Hashimotos thyroiditis has not been reported in the literature. We believe that the coexistence of thyroiditis and KFS in our patient represents a random association, since there are no data to support the hypothesis of an increased incidence of autoimmune disorders in these patients.
20 - 22 Sep 2014
European Society for Paediatric Endocrinology