title: Cutis laxa associated with central hypothyroidism owing to isolated thyrotropin deficiency in a newborn.
abstract: Cutis laxa is an uncommon entity characterized by laxity of the skin, which hangs in loose folds, producing an appearance of premature aging. It can be subdivided into congenital and acquired forms. Genetic forms of cutis laxa include at least three forms of recessive disease, an X-linked form also termed occipital horn syndrome and an autosomal dominant form. Isolated pituitary hormone deficiency can be induced by many causes including mechanical destruction of the hypothalamo-pituitary axis, neoplasm, inflammation, and injury and genetic defects of pituitary hormone production and secretion. Isolated-thyrotropin deficiency has been considered to be a rare disease. We report a newborn with autosomal recessive form of congenital cutis laxa, who had congenital hypothyroidism owing to isolated thyrotropin deficiency. To the best of our knowledge, this is the first instance of this association to be reported in the literature.
authors.affiliation: Division of Neonatology, Erciyes University, Kayseri, Turkey. esad@erciyes.edu.tr
authors.forename: Esad
authors.initials: E
authors.lastname: Koklu
authors.forename: Tamer
authors.initials: T
authors.lastname: Gunes
authors.forename: Mehmet Adnan
authors.initials: MA
authors.lastname: Ozturk
authors.forename: Mustafa
authors.initials: M
authors.lastname: Akcakus
authors.forename: Derya
authors.initials: D
authors.lastname: Buyukkayhan
authors.forename: Selim
authors.initials: S
authors.lastname: Kurtoglu
mesh_terms: D003409:Congenital Hypothyroidism / Q000150:complications*; D003483:Cutis Laxa / Q000150:complications* / Q000235:genetics*; D017809:Fatal Outcome; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases / Q000235:genetics*; D013972:Thyrotropin / Q000172:deficiency*
chemical_list: D013972:Thyrotropin