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Aldosterone, the major circulating mineralocorticoid, participates in blood volume and serum potassium homeostasis. Primary aldosteronism is a disorder characterised by hypertension and hypokalaemia due to autonomous aldosterone secretion from the adrenocortical zona glomerulosa. Improved screening techniques, particularly application of the plasma aldosterone:plasma renin activity ratio, have led to a suggestion that primary aldosteronism may be more common than previously appreciated among adults with hypertension. Glucocorticoid-remediable aldosteronism (GRA) was the first described familial form of hyperaldosteronism. The disorder is characterised by aldosterone secretory function regulated chronically by ACTH. Hence, aldosterone hypersecretion can be suppressed, on a sustained basis, by exogenous glucocorticoids such as dexamethasone in physiologic range doses. This autosomal dominant disorder has been shown to be caused by a hybrid gene mutation formed by a crossover of genetic material between the ACTH-responsive regulatory portion of the 11ss-hydroxylase (CYP11B1) gene and the coding region of the aldosterone synthase (CYP11B2) gene. Familial hyperaldosteronism type II (FH-II), so named to distinguish the disorder from GRA or familial hyperaldosteronism type I (FH-I), is characterised by autosomal dominant inheritance of autonomous aldosterone hypersecretion which is not suppressible by dexamethasone. Linkage analysis in a single large kindred, and direct mutation screening, has shown that this disorder is unrelated to mutations in the genes for aldosterone synthase or the angiotensin II receptor. The precise genetic cause of FH-II remains to be elucidated.

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OBJECTIVE: To report the clinical, hormonal, and histopathological features of a woman with ovarian resistance to LH. DESIGN: Clinical study. SETTING: University hospital. PATIENT(S): A woman with amenorrhea, sister of a patient with male pseudohermaphroditism due to Leydig cell hypoplasia. INTERVENTION(S): Blood drawing before and after GnRH stimulation and also after dexamethasone and hCG administration, pelvic ultrasound, and ovarian biopsy. MAIN OUTCOME MEASURE(S): Karyotype, gonadotropin and steroid measurements, follicular diameter, ovarian histology, and sequencing of the LH receptor gene. RESULT(S): Patient had normal female external genitalia, normal breast development at puberty, rare episodes of vaginal bleeding, and infertility. The karyotype was 46,XX. She had elevated serum LH levels, whereas E2 and P concentrations were in the range seen in the early follicular phase. Pelvic ultrasound revealed a slightly hypoplastic uterus and enlarged polycystic ovaries. A normal follicular reserve for age, antral follicles, and absence of corpora lutea or albicans were observed on ovarian biopsy. Exon 11 of the LH receptor gene had a normal sequence. CONCLUSION(S): In our patient with ovarian resistance to LH, FSH stimulated follicular development until the preovulatory stage, but E2 levels remained in the early follicular phase range, still sufficient for normal pubertal feminization. Apparently, LH is necessary for ovulation and corpus luteum formation.

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The degree of thyroid impairment and the effects on growth have not been investigated in children with Cushing's disease. We followed the thyroid function of 24 children and adolescents (12 males and 12 females) with CD (age, 12.9 +/- 3.2 years; mean +/- SD), who were successfully treated by transsphenoidal surgery. Patients were evaluated before, and 3, 6, and 12 months after TSS. Analysis of variance and linear correlation were performed between thyroid function tests and body weight and mass index and bone age. Preoperative free thyroxine levels (1.37 +/- 0.03 ng/dl) were significantly higher than those at 3 months (1.17 +/- 0.05 ng/dl, p < 0.05), but similar to those at 6 and 12 months postoperatively. Preoperative T3 (114.2 +/- 7.7 ng/dl) and TSH (1.36 +/- 0.2 IU/ml) were significantly lower than the postoperative values at 3 (158.9 +/- 6.8 and 2.3 +/- 0.3, respectively), 6 (159.1 +/- 10.8 and 2.5 +/- 0.3, respectively), and 12 months (136 +/- 6.5 and 2.2 +/- 0.3, respectively) (all p < 0.05). One patient had frank hypothyroidism (fT4 < 1 ng/dl) before surgery. Five additional patients had secondary hypothyroidism in the immediate postsurgical period; two of them had normal thyroid function 2 and 3 years postoperatively. One patient has remained hypothyroid for more than 5 years since surgery. No significant correlation was found between thyroid function and body weight, BMI, or BA. We conclude that hypothyroidism was an infrequent complication of CD and TSS. Mild suppression of thyroid function occurs in most children and adolescents with CD before and in the first few months after TSS, but it fully resolves after 6 months and does not correlate with the growth delay and obesity of these patients.

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After intravenous administration of ovine corticotropin-releasing hormone (CRH), the plasma corticotropin (ACTH) concentrations of adult black women and men are approximately twice as high as those of adult white women and men; however, there are no corresponding differences in cortisol response. To determine whether these differences in ACTH secretion are also present in prepubertal and early pubertal girls, we studied the hypothalamic-pituitary-adrenal axis of 19 black and 19 white girls of normal weight (age 7 to 10 years) who were matched for body mass index, age, and socioeconomic status. Measures of cortisol's effects, including waist circumference, waist/hip ratio, and fasting insulin and glucose levels, were obtained and related to the ACTH and cortisol responses to 1 micrograms/kg CRH. There were no racial differences in waist circumference, waist/hip ratio, fasting glucose or insulin levels, baseline free or total plasma cortisol levels, baseline ACTH concentrations, or the plasma cortisol response to CRH. However, CRH-stimulated plasma ACTH concentrations, measured in a polyclonal radio-immunoassay, were significantly greater in prepubertal and early pubertal black girls than in white girls at all time points between 15 and 90 minutes after administration of CRH (area under curve (AUC 1754 +/- 121 pmol/L/min in black girls vs 1304 +/- 124 pmol/L/min in white girls, p < 0.001). This difference was confirmed by an immunoradiometric assay believed to be specific for intact ACTH (AUC 1634 +/- 139 pmol/L/min in black girls vs 1224 +/- 104 pmol/L/min in white girls, p < 0.001). Neither ACTH AUC nor cortisol AUC was significantly correlated with body mass index in either black or white girls. We conclude that there are differences in the hypothalamic-pituitary-adrenal axis of prepubertal and early pubertal black and white girls similar to those found previously in adult women. The cause of these differences remains to be elucidated.

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A 9-year-old boy with X-linked hypophosphatemic rickets had a recurring oral giant cell lesion. These lesions are relatively uncommon in children and represent a potentially aggressive disorder that is microscopically indistinguishable from the brown tumors of hyperparathyroidism. Subclinical hyperparathyroidism is not uncommon in X-linked hypophosphatemic rickets and may account for the giant cell lesion in this patient.

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The purpose of this study was to test hypotheses regarding (1) relations among negative affect and hormones of gonadal and adrenal origin in young adolescents, at three times of measurement, over a one-year period; and (2) stability of negative affect. The sample consisted of 10- to 14-year-old boys (N=56) and 9- to 14-year-old girls (N=52). The adolescents were assessed three times at 6-month intervals over one year. Serum levels of gonadotropins, gonadal steroids, adrenal androgens, and cortisol were assessed, as well as stage of pubertal development (Tanner criteria). The negative affect assessments consisted of self-report questionnaire and interview measures of anxiety and depressive affect, as well as mother reports of internalizing behavior problems. In the concurrent (cross-sectional) analyses, boys reporting higher levels of negative affect tended to be those at higher genital stage or older age, with lower testosterone and cortisol levels and lower dehydroepian-drosterone sulphate levels. In the longitudinal analyses, negative affect, and to a lesser extent hormone levels at the first time of measurement predicted negative affect 12 months later. The findings suggest that puberty-related hormone levels should be considered along with psychological characteristics in examining the processes involved in the development of negative affect during the pubertal years.

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Relations between adolescent psychosocial adjustment problems and markers of biologic development, including chronologic age, pubertal status, and serum hormone levels, were examined in 56 normal boys and 52 normal girls, ages 9 to 14 years. Adolescent psychosocial adjustment was assessed by adolescent self-ratings of various aspects of self-image (Offer Self-Image Questionnaire for Adolescents) and parent ratings of adolescent behavior problems (Child Behavior Checklist). The pubertal status measure used in the analyses was Tanner genital stage for boys and Tanner breast stage for girls. The hormone measures, determined by radioimmunoassay, were serum levels of gonadotropins (luteinizing hormone and follicle stimulating hormone), sex steroids (testosterone and estradiol), and adrenal androgens (dehydroepiandrosterone and its sulfate, and androstenedione). The testosterone/estradiol ratio also was computed. Overall, findings were stronger, more consistent, and more generalized for boys than for girls. For boys, adjustment problems typically were associated with a multivariate profile that may be characteristic for later maturers: relatively low sex steroid levels, or lower pubertal stage, and relatively high adrenal androgen (androstenedione) levels, frequently in conjunction with higher chronologic age. Univariate relations predominated for girls; that is, associated with adjustment problems for girls were relatively high levels of gonadotropins, relatively low levels of dehydroepiandrosterone sulfate, and relatively high levels of androstenedione on their own or in conjunction with lower pubertal stage. Higher levels of androstenedione, a steroid particularly responsive to stress, were associated with adjustment problems in both boys and girls. This relation may reflect the stress of later maturation, which could result from environmental factors, such as adolescent self-comparisons with same-age peers, or endogenous effects of hormones.

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To explore the potential effect of dose schedule on the adrenal suppressive action of hydrocortisone in congenital adrenal hyperplasia, eight patients (six with 21-hydroxylase deficiency and two with 11-hydroxylase deficiency) were given five different dose schedules. Two of the schedules used single daily doses (morning or evening), two twice daily doses (two-thirds dose in the morning or evening), one and three equal doses at morning, noon, and night. Each dose schedule used the same total daily hydrocortisone dose (12.5 mg/m2/day), which is within the normal range of hydrocortisone production rate. Each schedule was given for 4 to 6 weeks. The different dose schedules caused the predicted alterations in the temporal pattern of adrenal steroid levels, with the greatest apparent suppression during the 2 to 4 hours after each dose. None of the schedules, however, caused significant differences in the mean 24-hour plasma concentration of 17-hydroxyprogesterone (21-hydroxylase deficiency) or 11-deoxycortisol (11-hydroxylase deficiency) or in the 24-hour urine pregnanetriol or 17-ketosteroid concentrations, either in the six patients undertreated at the dose of 12.5 mg/m2/day or in the two patients adequately treated. Nocturnal administration of all or a part of the daily dose did not improve adrenal suppression. These observations suggest that treatment of congenital adrenal hyperplasia with a once-a-day hydrocortisone dose schedule may be as effective as conventional multiple-dose schedules. Until this hypothesis has been tested by more extended clinical studies, however, we do not recommend a once-a-day schedule. Regardless of the dose schedule, the total daily hydrocortisone dose must be adjusted to achieve a normal rate of growth and bone age advancement.

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