Cardio-Facio-Cutaneous Syndrome with Precocious Puberty, Growth Hormone Deficiency and Hyperprolactinemia

Celik N., CİNAZ P., BİDECİ A., Yuce O., Emeksiz H. C., DÖĞER E., ...More

JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY, vol.6, no.1, pp.55-58, 2014 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 6 Issue: 1
  • Publication Date: 2014
  • Doi Number: 10.4274/jcrpe.1151
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.55-58
  • Keywords: Cardio-facio-cutaneous syndrome, MAPK, precocious puberty, growth hormone deficiency, hyperprolactinemia, COSTELLO-SYNDROME, CLINICAL-FEATURES, NOONAN-SYNDROME, CFC SYNDROME, PHENOTYPE, RASOPATHIES, MUTATIONS
  • Gazi University Affiliated: Yes


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 (<3th 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 followup, the patient developed a variety of endocrine disorders including precocious puberty, growth hormone deficiency and hyperprolactinemia.