Serum FSH level below 10 mIU/mL at twelve years old is an index of spontaneous and cyclical menstruation in Turner syndrome.

The gonadal function of patients with Turner syndrome (TS) is variable. Individuals with mosaicism characterized by 45,X/46,XX or 45,X/47,XXX are more likely to experience spontaneous menarche compared with other karyotypes. Prepubertal gonadotropins of TS patients with spontaneous menarche are reportedly normal or significantly lower than those of patients with induced menarche.

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 Range of 2.2-3.3 mg/gCr of Pregnanetriol in the First Morning Urine Sample as an Index of Optimal Control in CYP21 Deficiency.

Auxological data are the gold standard indexes of the therapeutic conditions in patients with CYP21 deficiency over long-term periods, whereas urinary pregnanetriol (PT) for 24 h has been used as an index for short-term periods. We previously reported that the range of 1.2-2.

Pregnanetriol in the Range of 1.2-2.1 mg/m(2)/day as an Index of Optimal Control in CYP21A2 Deficiency.

Auxological data is the gold standard index of the therapeutic condition in CYP21A2 deficiency over a long-range period, whereas urinary pregnanetriol for 24 h (PT) is variable for a shorter-range period. Ideal PT levels in comparison with auxological data have not been reported. The main purpose of this study was to analyze ideal PT values as an index of optimal control for CYP21A2 deficiency.

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.

Dose Adjustments of Hydrocortisone and L-thyroxine in Hypopituitarism Associated with Cholestasis.

A patient with congenital hypopituitarism associated with cholestasis is reported here. Large doses of fat-soluble hormones (hydrocortisone (20 mg/m(2)/day) and L-thyroxine (14 μg/kg/day)) were needed to resolve hypoglycemia and hypothyroidism during cholestasis. The doses could be reduced to 10 mg/m(2)/day and 3.

Hearing evaluation in two sisters with a T8993G point mutation of mitochondrial DNA.

We report on two sisters with a T8993G point mutation of mitochondrial DNA, and their hearing evaluation. Considering auditory function, hearing in the elder sister remains almost normal. However, in the younger sister, the auditory brainstem response (ABR) threshold has fluctuated remarkably during a 3-year follow-up.