Table 1.
Patient Characteristics
| Pt | Dx | Genetic Mutation | Age at Initial Symptoms | PMHx | FamHx |
|---|---|---|---|---|---|
| 1 | PJS | STK11/LKB1 p.D237E (c.711C>G) | Age 2 gynecomastia, testicular enlargement, lip freckling | · Undescended left testis | · MPH 176.5 cm |
| · Orchiopexy at 14 months of age | · Father, Ewing sarcoma in spine | ||||
| · Maternal aunt, Crohns | |||||
| 2 | PJS | STK11/LKB1 gross deletion of full gene | Age 4 gynecomastia and increased growth velocity | · Mild speech delay | · MPH 178.5 cm |
| 3 | PJS | STK11/LKB1 p.D194N (c.580G>A) | Age 3 lip freckling | · Conceived by in vitro fertilization | · MPH 177.8 cm |
| Age 7 gynecomastia | · Food allergies and eczema | · Mother hypothyroidism, cervical CA, hypertension | |||
| · Maternal GF, colonic polyps | |||||
| · Paternal GF, colon CA | |||||
| 4 | PJS | STK11/LKB1 gene microdeletion | Age 7.5 gynecomastia, testicular enlargement, lip freckling | · Bilateral hydroceles | · MPH 170.2 |
| · Autism and attention problems | · Mother, irritable bowel syndrome | ||||
| · Multiple ear infections and ear tubes | · Great GF, pancreatic CA | ||||
| · Multiple hamartomas on colonoscopy | |||||
| 5 | PJS | Age 8 gynecomastia | · Intussusception of small intestine | · Father, PJS | |
| 6 | CNC | PRKAR1A p.Glu297Glu (c.891G>A) | Age 7 left sided testicular enlargement, gynecomastia, lip freckling | · Previously healthy | · MPH 177.8 cm |
| · Mother, cardiac myxoma leading to embolic stroke; also found to have CNC | |||||
| · Father, co-arctation of the aorta |
MPH, midparental height; cm, centimeters; Mat, maternal; Pat, paternal; GF, grandfather; CA, cancer.