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., ...Daha Fazla

JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY, cilt.6, sa.1, ss.55-58, 2014 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 6 Sayı: 1
  • Basım Tarihi: 2014
  • Doi Numarası: 10.4274/jcrpe.1151
  • Dergi Adı: JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.55-58
  • Anahtar Kelimeler: Cardio-facio-cutaneous syndrome, MAPK, precocious puberty, growth hormone deficiency, hyperprolactinemia, COSTELLO-SYNDROME, CLINICAL-FEATURES, NOONAN-SYNDROME, CFC SYNDROME, PHENOTYPE, RASOPATHIES, MUTATIONS
  • Gazi Üniversitesi Adresli: Evet

Özet

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.