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Summary: The hGH response to an ornithin or an insulin test was measured in 105 children from 11–18 yr old with delay of growth more than 2 SD. Besides 74 subjects with normal values and 7 with complete lack of response, 24 subjects exhibited a partial rise of GH. Most of the latter had decreasing growth rate and no sign of puberty. Out of 15 assessed for GH function after onset of puberty, 14 showed a normal response accompanying a markedly increased growth velocity. Four other subjects with partial response who were receiving sexual hormones for 48 hr before the second test showed a normal response also. An exogenous hGH treatment administered in two of these patients resulted in a marked and sustained growth increase far before entering puberty.Speculation: The findings that plasma GH responses to stimulation tests is reduced in some children with decreasing growth rate before puberty and return to normal after onset of sexual development, would suggest a transient and functional defect in growth hormone secretion and the physiologic role of sexual hormones on GH release mechanism at that period of life.

Abstract. Using a highly specific radioimmunoassay recently described, plasma 21-deoxycortisol levels were measured in 55 heterozygous carriers of 21-hydroxylase deficiency (as demonstrated by HLA typing). Mean baseline 21-deoxycortisol levels were above the normal range, but there was a 38% overlap with control values. In contrast to 17-hydroxyprogesterone levels, which in 71% of the subjects remained within the normal range one hour after ACTH stimulation, 21-deoxycortisol levels increased over stimulated control levels in all but two heterozygous carriers. No differences as to the levels were observed between heterozygous carriers for the classic and the late-onset forms. Plasma 21-deoxycortisol measurement appears to be a valid tool in the biological detection of heterozygosity for 21-hydroxylase deficiency and its implications in genetic counselling.

Summary: Polygraphic sleep recordings were done in four children with psychosocial dwarfism. The first recordings, performed within the first days after hospitalization, exhibited a gross deficit of stage IV sleep and a decrease of the durations of slow wave sleep episodes (SWS = stages III and IV). The second recordings were performed after several wk (3–15) in the new environment, during the growth recovery period. A clear improvement of sleep quality was observed, namely an increase of stage IV amounts.In two of the four patients, hGH release was studied by means of the ornithine test. A low response was found in the first (2) days of hospitalization whereas a normal response was observed during the recovery period suggesting a partial and reversible hGH deficiency. A simultaneous recovery of both stage IV sleep and the growth rate was observed in the four patients. These data suggest that sleep disturbances are strongly linked to growth failure in psychosocial dwarfism.Speculation: A reversible hGH deficit has been found in psychosocial dwarfism. A temporal relationship between nocturnal release of hGH and slow wave sleep has already been established by others. We hypothesize that the slow wave sleep deficit observed in our patients can induce a deprivation of considerable amounts of hGH. At this point it is not possible to say whether the functional deficit of hGH is a consequence of the lack of stage IV, a reduction of the duration of slow wave sleep (stages 111 and IV) episodes, or both.

Plasma aldosterone and 17α-hydroxyprogesterone (17-OHP) concentrations were measured in 35 patients with congenital adrenal hyperplasia resulting from 21-hydroxylase deficiency. Ten patients had never been treated and among them were 4 salt-losing infants. Both aldosterone and 17-OHP were high in the 6 untreated non salt-losers. The values ranged respectively from 110 to 376 pg/ml and from 150 to 292 ng/ml. Results were variable in the 4 salt-losers. Three out of 5 untreated non salt-losers who were submitted to a low sodium diet, responded by doubling their aldosterone levels.When plasma 17-OHP concentrations were < 30 ng/ml, the mean aldosterone level in the treated non salt-losers (n = 6) was 15.3 pg/ml ± 4.3 (se). This value was not different from the mean level found in the control children (n = 7), 18.8 pg/ml ± 3.2. In the treated salt-losers (n = 9), the measured aldosterone levels were ≦ 10 pg/ml 7 times out of 9. When the treated patients exhibited plasma 17-OHP concentrations > 30 ng/ml, the salt-losers (n = 11) were distinguished from the non salt-losers (n = 8) in that they showed a significantly lower aldosterone mean level, 24.6 pg/ml ± 4.3 against 69 pg/ml ± 13.4 found in the non salt-losers.The salt-losers displayed no aldosterone increases to synthetic ACTH stimulation under treatment or at the withdrawal of treatment, while positive aldosterone responses were often observed in the non salt-losers. In the latter group, studied under different conditions (with and without therapy, on low sodium diet, after ACTH test) a significant correlation was found between aldosterone and 17-OHP levels expressed in log. values, (n = 38, r = 0.80, P< 0.001). The relationship could also be established with the values obtained from all the salt-losers, but it was less significant, (n = 35, r = 0.46, P< 0.02).

Ten somatotrophic adenomas removed from acromegalic patients and fragments of the non-tumoural surrounding pituitary were submitted to organ culture for periods of up to one month.Electron microscopic observation shows that these tumours retain their histological differentiation throughout the culture period. The cell morphology of the cultured tumours remains essentially unchanged and in particular the secretory granules keep their initial size (150 and 130 nm). However the granules disappear gradually so that most of the cells look chromophobic by the 4th week of culture, and numerous lysosomes as well as autophagic figures appear at the same time.The hGH concentration in the culture medium has been measured of 4 adenomas. It is very high (10-fold greater than that from non-tumoural pituitary medium) during the first week (range 200–300 μg/ml).It still remains very high in the same experiments until the second week of culture in one experiment (200 μg/ml). After incubation of cultures with 3H-leucine, 3H-hGH is obtained in the medium giving evidence of hormone synthesis by adenoma cells in culture. 3H-hGH represents 40 % of 3H-proteins in the culture medium and gives the same elution pattern as standard hGH on Sephadex G 100 chromatography.A certain degree of correlation is observed between morphological and biological results: the greatest hGH production is obtained from explants which maintain the best histological appearance.

The variations in plasma cortisol, testosterone and 17-hydroxyprogesterone (17-OHP) induced by an im injection of 0.25 mg cosyntrophin were studied in three groups of subjects: 16 healthy women, 16 hirsute women (HW) and 10 mild cases of congenital adrenal hyperplasia (CAH).The basal values of cortisol and testosterone were comparable between the three groups. In the patients with mild CAH, the mean 17-OHP concentration was increased: 483.9 ng/100 ml (113-1200 ng), but it should be noted that the individual values could overlap with the normal concentrations found in the controls and the HW during the luteal phase of the cycle.One hour after the injection of cosyntropin, a massive response of 17-OHP was observed in the mild cases of CAH, the mean basal concentration was multiplied by ten: 4843 ng/100 ml. The minimum concentration reached was 1740 ng/100 ml which is still 3-fold the highest level seen either in normal women (400 ng/ml) or in hirsute women (550 ng/100 ml). Determination of 17-OHP following a short-term ACTH stimulation, therefore provides evidence of partial 21-hydroxylase deficiency.

Abstract. A radioimmunoassay for 21-deoxycortisol is described. The immunogen, 21-deoxycortisol-3-(O-carboxymethyl) oxime-bovine serum albumin, was prepared, the antisera raised against it were studied and the reliability of the assay was checked. The antiserum selected cross-reacted with 11-deoxycortisol (0.08%), corticosterone (0.25%), cortisol (0.6%) and 17-hydroxyprogesterone (1.6%). 21-deoxycortisol was separated by celite partition chromatography and eluted in the 70/30 (v/v) isooctane/ethyl acetate fraction together with 11-deoxycortisol and corticosterone.The radioimmunoassay was used to measure 21-deoxycortisol in the plasma of normal subjects and patients with androgen excess. In normal subjects, men (0.19 ng/ml ± 0.08) and women (0.18 ng/ml ± 0.09) had similar basal levels (mean ± sd). One hour after ACTH stimulation, these levels were increased by a factor of 3.5. In 7 patients treated for classical congenital adrenal hyperplasia associated with 21-hydroxylase deficiency, basal values varied between 9.1 and 39.9 ng/ml (measured at 8 a.m.). In 7 untreated women with lateonset congenital adrenal hyperplasia (with 21-hydroxylase deficiency), ACTH-stimulated levels were increased to between 9 and 25.5 ng/ml. In 14 heterozygous carriers of 21-hydroxylase deficiency, diagnosed by HLA genotyping, all ACTH-stimulated levels were well above the highest corresponding levels in normal subjects, whereas 17-hydroxyprogesterone levels remained within the normal range in 9 of the cases.

The simultaneous determination of cortisol and 17α-hydroxyprogesterone (17-OHP) was carried out on a single plasma sample (0.6 ml) by the competitive protein-binding technique after a steroid partition by water and carbon tetrachloride.This procedure was tested for sensitivity, accuracy, reproducibility and specificity. It was then applied to plasma samples obtained from 20 control subjects and 28 patients with 21-hydroxylase deficiency.The cortisol value in the control group was 9.3 μg/100 ml ± 0.7 (se). This was moderately decreased in the untreated patients (group I): 6.7 μg/100 ml ± 0.9 (se), markedly decreased in those who discontinued treatment for 3 to 15 days (group II): 1.5 μg/100 ml ± 0.3 (se) and was suppressed in the treated patients (group III).In normal children, the 17-OHP level was at the limit of sensitivity of the method. It was increased to 29 μg/100 ml ± 2.8 (se) in group I and was unchanged in group II: 26.5 μg/100 ml ± 3.4 (se). The plasma 17-OHP remained elevated in the patients who received an oral cortisol dose ≦ 20 mg/m2/ day and decreased to ≦ 3 μg/100 ml in those who were treated with a cortisol dose > 20 μg/m2/day.A 17-OHP response to ® and a 17-OHP diurnal rhythm were were observed in the untreated patients. In contrast, the patients who had temporarily stopped their treatment had no reaction.A negative correlation between the cortisol and ACTH levels appeared in groups I and II (N = 19; r = –0.66; P< 0.01) and a positive correlation was noted between the 17-OHP and urinary pregnanetriol values in all the patients (N = 33; r = 0.52; P< 0.01).The reported technique described is simple and contributes to the diagnosis of congenital adrenal hyperplasia; it can also be useful in the follow-up of treated patients.