Noonan Syndrome Presenting with Stunted Growth: A Case Report

Noonan syndrome is a genetic disorder of autosomal dominant inheritance that prevents normal development in various parts of the body. A spontaneous mutation without any family history may also result in the condition. Noonan syndrome can affect normal growth. Birth weight may be normal, but growth slows over time. The growth spurt usually seen during the teenage years may be delayed, and bone maturity also is delayed. In this case A 13 year's male admitted inpatient Department of Endocrinology, Mymensingh Medical College Hospital in April 2021 with not attaining appropriate height and delayed development of secondary sexual characteristics. His birth weight was normal; gestational and neonatal history was uneventful. He was diagnosed with severe pulmonary stenosis at four years and underwent cardiac surgery at his four and eleven years. He was noted to have growth failure from the age of 9 years onward. He had no family history of such type of disease. On examination, he was short statured, underweight, having an upper: lower segment ratio of 1.05 with an arm span of 126cm. He had craniosynostosis, high arched palate, the thick helix of ears (outer rim), small, upturned nose, depressed broad nose, deeply grooved philtrum, keratosis pilaris of the face and upper arm, slant eyes with proptosis, keloid scar over mid-chest, widely spaced nipple, shield chest, pectus excavatum and cubitus valgus. His sexual maturation score was A1, P1, B1. He had pulmonary stenosis with pulmonary hypertension. He had mild microcytic anemia with normal liver, renal, blood glucose, and calcium profile. His bone age was delayed (9 years), thyroid function was normal. The growth hormone dynamic test after clonidine stimulation was normal. His karyotype was 46XY. We have considered giving recombinant growth hormone therapy to accelerate his height.