Abstract. We report on two patients with 45,X/46,X,idic(Y) who showed different sex development. Case 1 is a 2-year-old boy. At one month of age his left retentio testis was noticed. Orchidopexy of left side was attempted when the patient was one year old, but gonadectomy was performed instead because an undifferentiated gonad was found. Pathological examination revealed ovotestis. Physical examination showed short stature (-2.6 SD), right testis (1 ml in volume), small penis (2.5 cm in length), and no signs of Turner syndrome. Chromosome analysis for peripheral lymphocytes revealed 45, X[5]/46, X, +mar [25].ish idic (Y) (q11.2) (SRY++, DYZ3++, DYZ1-). An HCG test showed a fairly good testosterone response (14→182 ng/dL). Case 2 is an 11-year-old girl. Physical examination showed short stature (-2.5 SD) and no signs of Turner syndrome. An LH-RH test showed excessive response (LH 36→400; FSH 200→480 mIU/mL). Small uterus was detected by abdominal echography. Because of the risk of gonadoblastoma, gonadectomy was performed. The bilateral gonads were streak gonads. Chromosome analysis of the resected gonad revealed 45, X[27]/46, X, idic (Y) (q12) [23]. PCR analysis of DNA from the resected gonad detected SRY. Since the rearranged Y chromosomes of both cases were positive for SRY, it is likely that the difference in the mosaic cell ratio in the gonad played an important role in their discordant sexual phenotypes.
Prevention of hypoglycemia is an important strategy for glycemic management in patients with type 1 diabetes mellitus (T1D). Hypoglycemia is difficult to recognize at night while sleeping, particularly when using multiple daily injection (MDI) insulin therapy rather than sensor-augmented insulin-pump therapy. Therefore, it is possible that patients with T1D are at higher risk of nocturnal hypoglycemia when insulin is administered using an MDI regimen. We investigated nocturnal hypoglycemia in 50 pediatric patients with T1D on MDI insulin therapy using data from an intermittently scanned continuous glucose monitoring (isCGM) system. Hypoglycemia was observed on 446 of the 1,270 nights studied. Most of the hypoglycemic episodes were severe (blood glucose <54 mg/dL). On nights when hypoglycemia occurred, the blood glucose concentrations measured using finger-stick blood glucose monitoring (FSGM) before sleep and the next morning were lower than nights when hypoglycemia did not occur. However, few values were below the normal blood glucose range, suggesting that FSGM alone may be insufficient to detect nocturnal hypoglycemia. Approximately 7% of time was spent below the normal glucose range during the 10 hours from 21:00 to 7:00 the next morning. This result suggests that the patients on MDI insulin therapy could end up spending more time in hypoglycemia than is recommended by the American Diabetes Association (time below range <4.0% of time per day). Monitoring glucose levels overnight using an isCGM sensor may improve glycemic management via automatic detection of blood glucose peaks and troughs.
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