RESUMO
The Kabuki syndrome is characterized by mental retardation (mild-to-moderate), skeletal anomalies, typical facial appearance and post-natal growth deficiency. The authors describe two patients with Kabuki syndrome and proven growth hormone deficiency. The first patient has been on GH replacement therapy for 4 years; the second for 11 years. On the basis of a sufficiently long follow-up period the Authors discuss the advisability of replacement therapy with growth hormone in patients with Kabuki syndrome.
Assuntos
Hormônio do Crescimento Humano/deficiência , Anormalidades Múltiplas , Criança , Diagnóstico Diferencial , Face/anormalidades , Humanos , Deficiência Intelectual/diagnóstico , Masculino , Hipotonia Muscular/diagnóstico , Hipófise/fisiopatologia , SíndromeAssuntos
Doenças do Sistema Endócrino/tratamento farmacológico , Octreotida/uso terapêutico , Acromegalia/tratamento farmacológico , Adenoma de Células das Ilhotas Pancreáticas/tratamento farmacológico , Carcinoma de Células Escamosas/tratamento farmacológico , Diabetes Mellitus Tipo 1/tratamento farmacológico , Humanos , Neoplasias Pancreáticas/tratamento farmacológico , Neoplasias Hipofisárias/tratamento farmacológico , Tireotropina/metabolismoRESUMO
The relationship between basal and stimulated plasma GH and somatomedin-C (SmC) levels in acromegalic patients was evaluated. The basal plasma SmC levels of 66 patients were significantly correlated (P less than 0.01) with mean daily plasma GH levels, but not with the percent GH increase after GH-releasing hormone or TRH or the GH decrease after acute bromocriptine administration. Bromocriptine (7.5-15 mg/day) administration for 9.2 +/- 0.9 (+/- SD) months in 20 patients significantly (P less than 0.05) decreased GH levels. SmC decreased significantly [from 9.8 +/- 1.9 to 5.1 +/- 0.7 U/ml (mean +/- SE)] only in the 10 patients who had the more marked GH inhibition. The administration of a somatostatin analog, SMS 201-995 (100 micrograms twice daily), to 12 patients for 16 weeks significantly decreased plasma GH and SmC levels beginning on the second day of therapy; normal SmC levels were achieved in 5 of 12 patients. Pituitary adenomectomy resulted in normal GH and SmC levels in 10 of 12 and 8 of 12 patients, respectively. Our data indicate an overall dependency of plasma SmC levels on plasma GH levels in acromegaly, although similar GH levels may have differing somatomedin-stimulating activities. A derangement in the feedback mechanisms controlling GH secretion is indicated by the failure of elevated SmC levels to influence the GH responsiveness to releasing hormones. In evaluating pharmacological or surgical treatments of acromegaly, a single plasma SmC value can reliably replace several plasma GH determinations.
