“…The first patient, NY1, with clinically-confirmed Leprechaunism [6], [22], had a homozygous G to T variation at nucleotide 451 converting Glu 151 to a premature stop codon (c.451G > T,p.Glu151term). The second patient, 452, was a female infant with symptoms including repeated transient hypoglycemic episodes, prominent female genitalia, marked hirsutism, breast hyperplasia, loose and pachydermatous skin, decreased adipose tissue, acanthosis nigricans, and abdominal distention [7].…”