Cardio-facio-cutaneous syndrome with precocious puberty,growth hormone deficiency and hyperprolactinemia

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. © journal of clinical research in pediatric endocrinology.