Hypopituitarism and chorioretinopathy in two siblings.
Two male siblings with chorioretinopathy and pituitary dysfunction (CPD) were found to have empty sellas on CT scan. Extensive ophthalmological and endocrinological investigation revealed the absence of gonadotrophins in both brothers and growth hormone deficiency in one. ACTH, TSH, and posterior pituitary function were normal. Karyotyping in one brother revealed a 46XY complement. Ophthalmological evaluation of three other siblings and both parents revealed normal vision and no evidence of retinopathy. The brothers represent two additional examples of CPD syndrome, suggesting a genetic etiology for this syndrome complex. The empty sellas present add another facet to the central nervous system disorders found in CPD syndrome.
Wu
R
R
Department of Pediatrics, Bronx Lebanon Hospital Center, NY, USA.
Ling
C
C
Hahn
Y S
YS
D000293:Adolescent; D000328:Adult; D015862:Choroid Diseases / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D005192:Family Health; D013006:Growth Hormone / Q000172:deficiency; D006801:Humans; D007018:Hypopituitarism / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D007621:Karyotyping; D008297:Male; D012162:Retinal Degeneration / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D013577:Syndrome
D013006:Growth Hormone