title: Cardio-facio-cutaneous syndrome with precocious puberty, growth hormone deficiency and hyperprolactinemia.
abstract: Cardio-facio-cutaneous (CFC) syndrome is a rare disorder characterized by craniofacial dysmorphia, ectodermal abnormalities, cardiac malformations, as well as growth and developmental delay. Although some endocrine abnormalities have been reported in this syndrome, very little is known about CFC syndrome-related endocrine disorders. A 7.5-year-old boy was admitted to our endocrinology clinic with the complaint of short stature. He had a height of 103 cm [-4 standard deviation (SD)], a weight of 16 kg (<3(th) percentile, -1.7 SD), a facial appearance typical for the CFC syndrome, optic nerve hypoplasia and pulmonary stenosis. Genetic investigation revealed a heterozygous mutation in exon 3 of the MEK1 gene, c.389A>G (p. Y130C). During his long-term follow-up, the patient developed a variety of endocrine disorders including precocious puberty, growth hormone deficiency and hyperprolactinemia.
authors.affiliation: Gazi University Medical Faculty, Department of Pediatric Endocrinology, Ankara, Turkey. E-ma-il: celiknurullah@hotmail.com.
authors.forename: Nurullah
authors.initials: N
authors.lastname: Çelik
authors.forename: Peyami
authors.initials: P
authors.lastname: Cinaz
authors.forename: Aysun
authors.initials: A
authors.lastname: Bideci
authors.forename: Özge
authors.initials: Ö
authors.lastname: Yüce
authors.forename: Hamdi Cihan
authors.initials: HC
authors.lastname: Emeksiz
authors.forename: Esra
authors.initials: E
authors.lastname: Döğer
authors.forename: Orhun
authors.initials: O
authors.lastname: Çamurdan
mesh_terms: D002648:Child; D004476:Ectodermal Dysplasia / Q000097:blood / Q000150:complications / Q000473:pathology*; D019066:Facies; D005183:Failure to Thrive / Q000097:blood / Q000150:complications / Q000473:pathology*; D006130:Growth Disorders / Q000097:blood / Q000209:etiology / Q000473:pathology*; D006330:Heart Defects, Congenital / Q000097:blood / Q000150:complications / Q000473:pathology*; D006801:Humans; D006966:Hyperprolactinemia / Q000097:blood / Q000209:etiology / Q000473:pathology*; D008297:Male; D011379:Prognosis; D011629:Puberty, Precocious / Q000097:blood / Q000209:etiology / Q000473:pathology*