Severe skeletal dysplasia caused by undiagnosed hypothyroidism.
Due to increased awareness of early clinical signs and introduction of neonatal screening for congenital hypothyroidism, long-term untreated hypothyroidism has become rare. Nevertheless, neonatal screening for congenital hypothyroidism is not performed in all countries, and not every affected patient might be picked up by neonatal screening alone. Here we describe a case of congenital hypothyroidism due to an ectopic thyroid that was not diagnosed for 13 years and resulted in severe skeletal changes beside mental disablement. The patient showed coarse facial features (hypertelorism, broad flat nasal bridge, broad face) and a severe truncal shortening due to kyphoscoliosis of the spine. X-rays detected highly retarded bone age, a widely opened anterior fontanelle, immature, flat bodies of the vertebra with ventral beaked deformities mainly in the lumbar region and no ossification centres in the head of the femurs. In this patient we found no evidence for a mutation of the PAX8 gene known to cause an ectopic and/or hypoplastic thyroid.
Hüffmeier
Ulrike
U
Institute of Human Genetics, University Hospital Erlangen, Friedrich-Alexander University of Erlangen-Nuremberg, Schwabachanlage 10, Erlangen, Germany. uhueffm@humgenet.uni-erlangen.de
Tietze
Hans-Ulrich
HU
Rauch
Anita
A
D000293:Adolescent; D000328:Adult; D001848:Bone Diseases, Developmental / Q000209:etiology*; D003409:Congenital Hypothyroidism / Q000150:complications* / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000209:etiology; D015997:Neonatal Screening; D000072636:PAX8 Transcription Factor; D051761:Paired Box Transcription Factors / Q000235:genetics
D000072636:PAX8 Transcription Factor; C083325:PAX8 protein, human; D051761:Paired Box Transcription Factors