RESUMO
A 14-year-old boy was seen because of irritability, insomnia, lethargy, and profuse sweating, together with hypertension (blood pressure: 160/120 mm Hg), tachycardia, and a diffuse erythematous rash with desquamation of the palms and soles. Initial biochemical investigation suggested a diagnosis of pheochromocytoma, but subsequently a history of exposure to mercury vapor was obtained. This case emphasizes the clinical and biochemical similarities between mercury poisoning (acrodynia) and pheochromocytoma.
Assuntos
Acrodinia/diagnóstico , Neoplasias das Glândulas Suprarrenais/diagnóstico , Intoxicação por Mercúrio/diagnóstico , Feocromocitoma/diagnóstico , Acrodinia/sangue , Acrodinia/urina , Doença Aguda , Adolescente , Diagnóstico Diferencial , Humanos , Masculino , Mercúrio/sangue , Mercúrio/urina , Intoxicação por Mercúrio/sangue , Intoxicação por Mercúrio/urinaRESUMO
In a retrospective analysis of 24 cases of congenital adrenal hyperplasia (CAH) in neonates born in the province of Manitoba during the last 20 years, we set out to determine whether patients, in particular male infants with salt-losing CAH, were being missed by the usual forms of clinical ascertainment. Although the overall incidence of 1/14,500 live births was similar to that found in several screening surveys, a skewed female/male sex ratio of 2.2:1 suggested probable death among male infants with unrecognized adrenal insufficiency. These results led to a prospective analysis of 17 alpha-hydroxyprogesterone (17-OHP) levels in 1194 neonatal blood specimens by a solid-phase direct radioimmunoassay procedure to determine whether this method would be suitable for CAH screening. In 1103 neonates weighing greater than 2500 gm at birth, all 17-OHP values were less than 30 nmol/L (approximately 1000 ng/dl), with a mean of 8.2 nmol/L; values in male infants were slightly higher than in female infants. In 89 neonates with a birth weight less than 2500 gm, 17-OHP values were skewed, with nine having levels greater than 30 nmol/L and two greater than 50 nmol/L. Postnatal age (1 to 24 days) at the time of specimen collection had no effect on 17-OHP levels, although higher values occur during the first 24 hours. One unsuspected case of CAH in a male infant was discovered during the trial period. We conclude that neonatal CAH screening can permit diagnosis and therapy of affected male infants who are being missed by normal clinical evaluation. This radioimmunoassay method is relatively simple and inexpensive, and it has the specificity and sensitivity necessary to provide such mass screening.
Assuntos
Hiperplasia Suprarrenal Congênita/sangue , Hidroxiprogesteronas/sangue , 17-alfa-Hidroxiprogesterona , Hiperplasia Suprarrenal Congênita/epidemiologia , Fatores Etários , Estudos de Coortes , Feminino , Humanos , Recém-Nascido de Baixo Peso , Recém-Nascido , Masculino , Manitoba , Programas de Rastreamento , Estudos Prospectivos , Radioimunoensaio , Estudos RetrospectivosRESUMO
Twenty-two patients with biopsy proved histiocytosis X, aged 10 months to 14 years (median 2 years) at the time of diagnosis, were observed for 6 months to 13 years (median 4 years). One patient who had received 3000 rads irradiation directly to the hypothalamic-pituitary area had clinical and biochemical evidence of growth hormone deficiency and responded to GH therapy. Thirteen patients had normal stature, normal growth velocity, and no diabetes insipidus. The GH response to insulin-induced hypoglycemia was studied in three of these 13 patients (group 1), in three children with short stature and no diabetes insipidus (group 2), and in five patients with diabetes insipidus but normal stature and growth velocity (group 3). Peak GH responses were normal (greater than 5 micrograms/L) in all patients in groups 1 and 2, but three of the five patients in group 3 had subnormal GH responses to insulin-induced hypoglycemia and to arginine, L-DOPA/propranolol, and exercise. Their growth rates continue to be normal over 6 to 14 years follow-up. Thus, although impaired GH responses were observed in four of the 12 patients tested, true growth failure occurred only in association with direct hypothalamic-pituitary irradiation. This experience and the observation that GH deficiency was diagnosed in fewer than 1% of children with histiocytosis in Canada during a 15-year period (accounting for less than 1% of all children with GH deficiency) suggest that classic GH deficiency is not a common complication of histiocytosis unless direct hypothalamic-pituitary irradiation has been given.
Assuntos
Transtornos do Crescimento/etiologia , Hormônio do Crescimento/deficiência , Histiocitose de Células de Langerhans/complicações , Criança , Pré-Escolar , Terapia Combinada , Feminino , Transtornos do Crescimento/sangue , Histiocitose de Células de Langerhans/terapia , Humanos , Masculino , Testes de Função Hipofisária , Estudos ProspectivosAssuntos
Hipotireoidismo Congênito , Iodetos/metabolismo , Erros Inatos do Metabolismo/etiologia , Transporte Biológico Ativo , Feminino , Humanos , Hipotireoidismo/genética , Hipotireoidismo/metabolismo , Lactente , Recém-Nascido , Linhagem , Testes de Função Tireóidea , Tireotropina/metabolismo , Tiroxina/metabolismoRESUMO
Serum concentrations of dehydroepiandrosterone, DHA sulfate, estradiol, and prolactin in 20 girls with precocious adrenarche were compared with those of healthy girls of varying age and degrees of breast and sex hair development. Production of adrenal androgens, as reflected by serum DHA and DHA-sulfate concentrations, was significantly increased in PA above that in age-matched control subjects. Surprisingly, in spite of their lack of breast growth, the patients with PA also had serum estradiol levels that were higher than in the prepubertal girls and similar to those found in girls with both breast and pubic hair development. Serum prolactin concentrations in the patients with PA were not increased over those of the age-matched (less than 8 years) prepubertal girls. In the older prepubertal ( greater than 8 years) and early pubertal girls serum prolactin levels were lower. The finding of increased estradiol levels suggests that precocious adrenarche is not a distinct endocrine entity, but merely represents a variant of early adolescence in which estrogen secretion is sufficient to influence adrenal 3beta-hydroxysteroid dehydrogenase activity with a resultant rise in DHA production, but not sufficient to produce clinically apparent breast changes. The data do not support a similar role for prolactin.
Assuntos
Córtex Suprarrenal/fisiologia , Estradiol/fisiologia , Prolactina/fisiologia , Mama/crescimento & desenvolvimento , Criança , Desidroepiandrosterona/sangue , Estradiol/sangue , Feminino , Humanos , Prolactina/sangue , Puberdade , Fatores de TempoRESUMO
Serum concentrations of 17OH-progesterone were studied serially over 24 hours in 13 treated and untreated patients with the C21 hydroxylase form of congenital adrenal hyperplasia. The results were correlated with measurements of plasma renin activity, serum electrolytes, and urinary 17-ketosteroids and pregnanetriol. In 500 healthy subjects from birth to adult life, serum 17OH-pregesterone levels ranged from 5 to 315 ng/dl. In untreated CAH, serum 17OH-progesterone was markedly elevated (2,000 to 80,000 ng/dl). Treatment with cortisol (20 to 30 mg/m2/day in 3 doses) resulted in normal serum 17OH-progesterone levels in both non-salt-losing and salt-losing patients receiving adequate mineralocorticoid. Even slightly inadequate mineralocorticoid therapy (shown by high plasma renin activity with normal serum electrolytes) was associated with elevated 17OH-progesterone (to 65,000 ng/dl) in spite of usually effective doses of cortisol. Some patients showed isolated 17OH-progesterone elevations (usually early morning), a situation which requires only revision of the cortisol dosage schedule without an increase in total dosage. The data confirm the value of 17OH-progesterone assays in both the diagnosis and management of CAH. Taken together with determinations of plasma renin activity, serum 17OH-progesterone assays can permit more exact control of CAH without excessive doses of glucocorticoid.
Assuntos
Hiperplasia Suprarrenal Congênita , Hidroxiprogesteronas/sangue , 17-Cetosteroides/urina , Adolescente , Hiperplasia Suprarrenal Congênita/diagnóstico , Hiperplasia Suprarrenal Congênita/tratamento farmacológico , Criança , Pré-Escolar , Feminino , Sangue Fetal , Humanos , Hidrocortisona/administração & dosagem , Hidrocortisona/uso terapêutico , Lactente , Recém-Nascido , Masculino , Pregnanotriol/urina , Radioimunoensaio , Renina/sangue , Cloreto de Sódio/metabolismo , Esteroide HidroxilasesRESUMO
Serum determinations of follicle-stimulating hormone and luteinizing hormone have been carried out in 13 prepubertal and adult patients who had been treated with courses of either oral or intravenous cyclophosphamide. All results were within the normal range for the patients' ages and sexual development. Although these results establish that gonadal endocrine function and pituitary-gonadal feedback relations may not be destroyed by cyclophosphamide, the possibility remains that prolonged cyclophosphamide therapy in young patients will result in some impairment of future fertility.