Noonan Syndrome and Celiac Disease in an Adolescent With Short Stature and Delayed Puberty

Abstract

Background/Objective: We present an adolescent male with Noonan syndrome (NS) and celiac disease (CD) who attained normal adult height with growth hormone (GH) treatment and gluten-free diet (GFD). Case Report: A 15 ½ year old healthy male presented with short stature and delayed puberty. His mother and maternal grandmother were short with heights 142.2 cm and 147.3 cm, respectively. Examination showed bilateral epicanthal folds and down slanting eyes like his mother, fifth finger clinodactyly, height 147.5 cm (<1%; standard deviation score, −2.96), growth velocity 2.5 cm/y, weight 48.2 kg (11%; standard deviation score, −1.24), Tanner 2 pubic hair and Tanner 1 genitalia. Midparental target height was 169.1 cm. He had normal screening studies for GH deficiency and thyroid disorders, prepubertal gonadotropins and testosterone levels, and normal total immunoglobulin A, and elevated antitissue transglutaminase immunoglobulin A 134.7units/mL (0-20). Bone age was 13 years. Genetic evaluation revealed heterozygous missense variant of BRAF gene in him and his mother confirming a diagnosis of NS. He was diagnosed with CD by intestinal biopsy. Patient was started on GH therapy and a GFD with subsequent improvement in growth velocit (6.8-12.3 cm/y) and advancement of puberty. The patient stopped GH therapy at 17 ½ years with a height 165.9 cm. Discussion: Coexistence of NS caused by BRAF missense variant and CD has not been previously reported. Our patient attained normal adult height with GH therapy and GFD. Conclusion: NS and CD can co-occur and addressing both these disorders can help patients attain normal height potential.

Keywords

• Noonan syndrome
• celiac disease
• BRAF mutation
• growth hormone
• gluten-free diet