1/3. noonan syndrome presenting growth hormone neurosecretory dysfunction.noonan syndrome has been diagnosed by the characteristic physical stigmata for more than two decades. Recent studies of growth hormone secretory pattern provide a new category of growth hormone neurosecretory dysfunction to characterize short stature. We describe herein a case of growth hormone neurosecretory dysfunction in a 16-year-old boy with noonan syndrome. Growth hormone neurosecretory dysfunction was diagnosed primarily based on the low amplitude and small numbers of the spontaneous bursts of growth hormone secretion during 12-hour nocturnal growth hormone sampling. Treatment with synthetic human growth hormone has markedly accelerated the growth velocity for one year and a half. This case notes the wide spectrum of short stature in noonan syndrome and the effectiveness of treatment with human growth hormone.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
2/3. Ring chromosome 5 associated with severe growth retardation as the sole major physical abnormality.We report on a case of ring chromosome 5 in a 36-month-old girl with severe growth retardation, clinodactyly, mild psychological abnormalities, and normal facial appearance. Endocrine tests showed partial growth hormone deficiency. Cytogenetic investigation failed to demonstrate any apparent microscopic deletion of either short or long arm of chromosome 5 as consequence of ring formation. In 12% of cells examined, the ring was either absent or present in multiple copies. Only 3 previous cases of ring chromosome 5 have been reported in association with short stature of prenatal onset and minor anomalies, without mental retardation.- - - - - - - - - - ranking = 4keywords = physical (Clic here for more details about this article) |
3/3. Morning glory syndrome in children. association with endocrine and central nervous system anomalies.OBJECTIVE: To identify morning glory syndrome, an uncommon optic disc anomaly. Generally, it is an isolated ocular abnormality; however, some cranial facial and neurologic associations have been reported. patients: We herein report two patients with morning glory syndrome and associated pituitary dwarfism. In one patient, the pituitary insufficiency was secondary to compression of the pituitary gland by a basal encephalocele; in the second patient, causative factors were not identified. CONCLUSIONS: patients with morning glory syndrome should have a complete general physical examination and growth evaluation so that early recognition and treatment of the patient with pituitary dwarfism can occur.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |