Septo-optic dysplasia and median cleft face syndrome in a patient with isolated growth hormone deficiency and hyperprolactinemia.
A pituitary evaluation was carried out in a 12-year-old girl who had early puberty, short stature, optic nerve hypoplasia, and agenesis of the corpus callosum. Her growth hormone (GH) response to insulin-induced hypoglycemia and arginine infusion was blunted. Basal and stimulated levels of prolactin were elevated. The association of GH deficiency and hyperprolactinemia suggests a disruption of the dopaminergic modulation of these hormones. The facial features seen in our patient, such as hypertelorism, V-shaped frontal hairline, and cleft nose and upper lip, are enough to justify the diagnosis of median cleft face (MCF) syndrome. However, the optic nerve hypoplasia and the GH deficiency are characteristics of septo-optic dysplasia, and, to our knowledge, they have never been described in patients with MCF syndrome. Our case fulfills the diagnostic criteria of both, representing a link between both ends of this spectrum.
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D000293:Adolescent; D061085:Agenesis of Corpus Callosum; D005145:Face / Q000002:abnormalities*; D005260:Female; D005836:Genitalia, Female / Q000002:abnormalities; D006130:Growth Disorders / Q000175:diagnosis; D013006:Growth Hormone / Q000172:deficiency*; D006801:Humans; D006972:Hypertelorism / Q000175:diagnosis; D009900:Optic Nerve / Q000002:abnormalities*; D010901:Pituitary Function Tests; D011388:Prolactin / Q000097:blood*; D011629:Puberty, Precocious / Q000175:diagnosis; D013577:Syndrome
D011388:Prolactin; D013006:Growth Hormone