Primary hypothyroidism and nipple hypoplasia in a girl with Wolcott–Rallison syndrome

• Published in: European journal of pediatrics Vol. 173; no. 4; pp. 529 - 531
• Main Authors: Špehar Uroić, Anita, Mulliqi Kotori, Vjosa, Rojnić Putarek, Nataša, Kušec, Vesna, Dumić, Miroslav
• Format: Journal Article
• Language: English
• Published: Berlin/Heidelberg Springer Berlin Heidelberg 01.04.2014; Springer Nature B.V
• Subjects: Age; Anemia; Antibodies; Birth weight; Child; Child, Preschool; Consanguinity; Diabetes; Diabetes Mellitus, Type 1 - genetics; eIF-2 Kinase - genetics; Enzymes; Epiphyses - abnormalities; Female; Humans; Hypothyroidism; Hypothyroidism - genetics; Insulin; Kinases; Male; Medical imaging; Medicine; Medicine & Public Health; Mutation; Nipples - abnormalities; Osteochondrodysplasias - genetics; Patients; Pediatrics; Short Communication; Thyroid Dysgenesis - genetics; Thyroid gland; Kosovo; Croatia; EIF2AK3; Nipple hypoplasia; Wolcott–Rallison syndrome; Primary hypothyroidism

Wolcott–Rallison syndrome (WRS), caused by mutation in the EIF2AK3 gene encoding the PERK enzyme, is the most common cause of permanent neonatal diabetes mellitus (PNDM) in consanguineous families and isolated populations. Besides PNDM, it also includes skeletal abnormalities, liver and renal dysfun...