Lingual thyroid associated with hypothyroidism as a cause for short stature

Lingual thyroid associated with hypothyroidism as a cause for short stature.

To cite: Kapoor N, Shetty S, Thomas N, et al. BMJ Case Rep Published online: [please include Day Month Year] doi:10.1136/bcr-2014206957 DESCRIPTION A 19-year-old college girl presented with lack of linear growth since 11 years of age, primary amenorrhoea and failure of development of secondary sexual characters. There was no significant history prior to this. On examination, she was a cheerful ...

A case of lingual thyroid with hypothyroidism.

ACAN mutations as a cause of familial short stature

Aggrecan, encoded by ACAN, is a major proteoglycan component of the extracellular matrix in the growth plate and articular cartilage. Aggrecan provides the hydrated gel structure important for the load-bearing properties of joints and plays a key role in cartilage and bone morphogenesis. At least 25 pathological ACAN mutations have been identified in patients with highly variable phenotypes of ...

Pituitary hyperplasia in children with short stature and primary hypothyroidism.

We present eight cases with short stature, pituitary hyperplasia, and hypothyroidism. Pituitary hyperplasia due to primary hypothyroidism was diagnosed on the basis of clinical manifestations, endocrine examination and MRI. After 2 to 6 months of L-thyroxine replacement therapy, the signs of hypothyroidism disappeared; free triiodothyronine, free thyroxine, thyrotropin and prolactin became norm...

Spondyloenchondrodysplasia: a rare cause of short stature.

Skeletal dysplasias (osteochondrodysplasias) are a group of diseases that must be included in the differential diagnosis of disproportionate short stature. History, clinical and radiologic findings and consanguinity are important features to be considered when a specific diagnosis is investigated. Spondyloenchondrodysplasia is a very rare skeletal dysplasia characterized with enchondromas in th...