Shinobu Kotoh

Stress doses of glucocorticoids cannot prevent progression of all adrenal crises.

Adrenal crises (ACs) sometimes progress rapidly and can be fatal. The aims of the present study were to reveal whether stress doses of glucocorticoids (SDGs) can prevent progression of severe ACs and to suggest a method of prevention, through analysis of its clinical features. We studied 24 severe ACs (nine patients) that occurred after diagnosis of primary or secondary adrenal insufficiency, retrospectively. The following information was analyzed: 1) whether SDGs were given orally and/or sc; 2) duration from the time when some symptoms started to the time when the patient came to the hospital; and 3) presence of hypoglycemia and electrolyte disturbance (hyponatremia, hyperkalemia). Eleven crises occurred after taking SDGs. Ten crises progressed within 3 h. Six of these ten crises progressed to severe ACs despite the fact that the patients took SDGs. Six crises were observed in association with hypoglycemia, and five of these six crises occurred in patients under 5 yr of age. Three of the six crises in association with hypoglycemia progressed to ACs within 3 h. Two of the three crises progressed to severe status within 3 h despite the fact that the patients took SDGs. Electrolyte disturbance was observed in only one crisis. In conclusion, SDGs cannot prevent progression of all ACs. Progression can be associated with hypoglycemia, particularly in patients under 5 yr of age. Patients should be given guidance on an ongoing basis on how to prevent ACs and hypoglycemia.

Clinical information on serum IGFBP-3 levels and IGFBP-3 proteolytic activity in childhood

In this review paper, three pieces of clinical information in childhood are presented: (1) IGFBP-3 may replace GH provocation tests in the diagnosis of GH deficiency (GHD); (2) IGFBP-3 levels are regulated by IGF-I levels in a short period, and (3) ratio of free IGF-I to total IGF-I is high in serum of early infancy, similarly to serum of pregnancy, only partially owing to the presence of IGFBP-3 proteolytic activity. Each paper will be published soon.

Gonadal Function in 15 Patients Associated with WT1 Gene Mutations

Denys-Drash syndrome (DDS) and Frasier syndrome (FS) are caused by mutations of the WT1 gene. These disorders are characterized by renal disease, abnormality of male sex differentiation, and Wilms’ tumor and gonadoblastoma. There have been few reports on gonadal function in a large series of patients with mutations of the WT1 gene. Here, we evaluated the relation between gonadal function and the phenotype of external genitalia in 15 Japanese patients with WT1 mutations. We confirmed three sets of information. First, if a diagnosis of DDS and FS is arrived at by genetic analysis, there are some overlaps in the phenotypes of external genitalia and renal complications. Second, the responses of serum T for the human CG (HCG) loading test coincided with the phenotype of external genitalia in both DDS and FS, except two patients. One DDS patient had male type external genitalia with a low level of serum T response, and one FS patient had complete female external genitalia despite a definite serum T response to HCG stimulation. Third, four FS patients had incomplete development of pubic hair, together with low DHEA-S levels.

Clinical Use of a Portable Infusion Pump and Pen‐Type Injector in Type 1 Diabetes Mellitus

Intensive insulin therapy was studied in six children with type 1 diabetes mellitus which was refractory to conventional insulin treatment. The methods used were continuous subcutaneous insulin infusion with a portable pump, and pre‐meal pulse infusion of short‐acting insulin with a pen‐type syringe supplemented with a bolus of long‐acting insulin. The former method was used in three patients for two weeks and in one patient for four months, in hospital, and the latter was used in two patients, starting in hospital and continuing for one year at home. Both these methods achieved better metabolic control than conventional therapy. In addition, insulin requirements decreased with continuous subcutaneous infusion but it had to be discontinued after discharge because of costs and the complexity of the equipment. With pre‐meal pulse infusion, insulin requirements increased compared with conventional therapy.