TY - JOUR 
A1 - Marín Díez, José Fernando
AU - Jódar Gimeno, José Esteban
AU - Sánchez del Pozo, Jaime
T1 - Coexistence of dyschondrosteosis associated to SHOX deficiency, pseudohypoparathyroidism 1B, and chronic autoimmune thyroiditis: a case report
Y1 - 2021
SN - 0334-018X

UR - http://hdl.handle.net/11268/11376
AB - We present an unusual case of SHOX deficiency associated with Léri-Weill dyschondrosteosis (LWD), Hashimoto’s thyroiditis and pseudohypoparathyroidism 1B in a young woman. To our knowledge, this is the first ever report of these disorders coexisting. At the age of nine years, the proband was diagnosed of hypothyroidism due to Hashimoto’s thyroiditis, and developed biochemical abnormalities consistent with hyperphosphatemia, mild hypocalcemia and elevated parathyroid hormone without any clinical symptoms except short stature. Replacement therapy with levothyroxine, calcium and alphacalcidol was initiated. The diagnosis of pseudohypoparathyroidism 1B was confirmed at the age of 17.5 years with the demonstration of methylation alteration at the GNAS locus. At the age of 16 years, 3.5 years after her menarche, she presented clear features of LWD. A large deletion of the SHOX gene was confirmed. Family genetic tests were not doable since she was adopted. We discuss the diagnostic challenges of these coexisting rare endocrinopathies.
KW - Proteína de la caja homeótica de baja estatura
KW - Tiroiditis autoinmune
KW - Enfermedad de Hashimoto
KW - Genética humana
KW - Bioquímica
KW - Enfermedad
LA - eng
ER -