Asunto(s)
Exones/genética , Proteínas de la Membrana/genética , Mutación/genética , Síndrome de Wolfram/genética , Secuencia de Aminoácidos , Secuencia de Bases , Niño , Preescolar , Familia , Femenino , Homocigoto , Humanos , Italia , Masculino , Proteínas de la Membrana/química , Datos de Secuencia Molecular , Linaje , Adulto JovenRESUMEN
Hypoglycemic episodes were studied in two large populations of prepubertal (332 subjects, aged 6-11 years) and adolescent (200 subjects, aged 12-18 years) diabetic children. We confirmed the majority of published data on incidence and causes of hypoglycemia and added some new information on the complex symptomatology and fear of hypoglycemia. Longer duration of IDDM induced a change in the symptomatology of hypoglycemia, consisting of a reduced occurrence of autonomic symptoms, namely tremor, and a parallel increased experience of neuroglycopenic symptoms, particularly drowsiness, difficulty in concentrating, and lack of coordination. The latter symptoms were found more frequently in patients with partial unawareness, more severe episodes and higher fear of hypoglycemia. These observations draw attention to the neuroglycopenic symptoms as important warning cues of hypoglycemia. We emphasized the necessity of observing the change in the frequency of symptoms experienced by patients, in particular autonomic and neuroglycopenic symptoms, in order to educate patients to preserve a normal awareness of hypoglycemia and prevent severe episodes.
Asunto(s)
Diabetes Mellitus Tipo 1/complicaciones , Hipoglucemia/epidemiología , Adolescente , Niño , Estudios Transversales , Diabetes Mellitus Tipo 1/tratamiento farmacológico , Diabetes Mellitus Tipo 1/fisiopatología , Femenino , Humanos , Hipoglucemia/etiología , Hipoglucemiantes/efectos adversos , Hipoglucemiantes/uso terapéutico , Insulina/efectos adversos , Insulina/uso terapéutico , Masculino , PercepciónRESUMEN
A 24-year-old woman was admitted to hospital because of hirsutism, virilism and amenorrhea, which had appeared 6 months earlier. Endocrinological evaluation showed a slightly elevated serum level of testosterone (1.2 +/- 0.05 ng/ml), normal plasma levels of dehydroepiandrosteronesulfate (DHEA-S) (2,070 +/- 6 ng/ml), androstenedione (1.8 +/- 0.5 ng/ml) and sex hormone-binding globulin (SHBG)(42 +/- 3 nM/L); there was normal urinary 17-ketosteroid (17-KS) excretion (11.7 mg/24 h), low urinary estrogen (E) excretion (3 +/- 0.4 micrograms/24 h), suppressed basal gonadotropin concentrations (LH 0.9 microUI/ml; FSH 3.2 microUI/ml) and an exaggerated response to the LH-RH test. At laparotomy, a monolateral ovarian tumor was found, which was proved histologically to be a Sertoli-Leydig cell tumor. After tumor ablation, a regular menstrual cycle followed and progressive reduction of virilism was noted. This was followed within 4 months by complete normalization of LH, FSH, estrogen and progesterone serum levels. The responsiveness to LH-RH also became normalized. Two years after this operation, the patient had a normal pregnancy. This case of virilization in a woman affected by a benign Sertoli-Leydig cell tumor was primarily characterized by an unusual response of the hypothalamopituitary axis against an endocrinological background of notable alteration of the androgen/estrogen ratio, where the androgens were slightly increased and the estrogens greatly reduced.