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Renal transplant recipients often show various metabolic abnormalities including reduced glucose tolerance, impaired insulin sensitivity and altered lipid metabolism. However, the acute effects of carbohydrate ingestion on substrate utilization and energy expenditure have not been fully elucidated.

Chromosome analysis was performed in a case of mixed gonadal dysgenesis (MGD) with histological demonstration of both testicular structures and Müllerian derivatives. Mosaicism 45,X0/46,X plus a centric fragment was observed. C-, Q- and R-banding techniques show that the fragment has a terminal centromere and that it is derived from the short arm of the Y chromosome from the father. H-Y antigen was also shown to be present in cultured cells. These data demonstrate that both male-determining and H-Y genes are located on the short arm of the Y.

A virilization syndrome in a normally menstruated 20—year-old woman, due to adrenocortical tumor, is reported. Preoperative basal hormonal study showed normal plasma gonadotropins, androstenedione (A) and cortisol, slightly elevated testosterone (T), markedly increased urinary 17 ketosteroids (17KS) excretion and plasma dehydroepiandrosterone-sulfate (DHEA-S) levels. Thus DHEA-S was the major constituent of the androgen excess. Urinary 17KS and plasma DHEA-S did not change after ACTH, whereas increased after dexamethasone (DXM)-hCG administration. PRL and LH responses to TRH and LHRH tests were exaggerated. Echotomography, pneumoperitoneum radiography and selective adrenal venous angiography showed a tumor in the left adrenal gland. After the tumor removal all abnormalities were corrected. Light and electron microscopy showed well differentiation of the tumoral cells with typical ultrastructural characteristics of androgen-secreting tissue. It is concluded that the absence of amenorrhea and of LH suppression does not exclude the possibility of an androgen-secreting tumor. Moreover, the unusual finding of slightly elevated T value may be reported to enzymatic defect at the neoplastic cellular level. Furthermore the paradoxical DXM-hCG androgen response may be due to spontaneous variations in hormone secretion by the tumor or to cell receptors alteration.

We investigated the melatonin (MT) circadian rhythm before and after somatostatin (octreotide) acute administration in ten subjects (4 M, 6 F; 23–52 yr old) with active acromegaly due to pituitary microadenoma. Blood samples were drawn every 2 hours over a 48-h span; after 24-h basal blood collection, octreotide (Sandostatin, Sandoz) 100 μg sc/8 h was administered. As control, 7 healthy adult subjects (3M, 4F; 26–50 yr old) were studied in basal condition over a 24-h span. Plasma MT and GH levels were measured by RIA in each sample, IGF-1 levels were measured by immunoradiometric assay in basal and after octreotide morning samples. The comparisons were made by Mann-U-Withney and Wilcoxon test as appropriate; the existence of a MT circadian rhythm was validated by cosinor analysis; GH and MT values were correlated by Pearson’s correlation coefficient. All of 7 control subjects and 2 of 10 acromegalics had significant 24-h MT rhythm. The area under curve (AUC), mesor and amplitude of the MT rhythms in acromegalics were significantly lower than in the controls (p< 0.001, 0.002 and 0.0006, respectively), with an earlier acrophase (median value: 22:14 vs02:08 h of controls). Basal plasma IGF-1 levels and circadian GH concentrations were significantly increased in acromegalics in comparison with the control group. Octreotide administration significantly reduced GH, restoring a circadian MT rhythm in 5 of 10 acromegalics, with MT mean mesor and AUC not different from controls. Mean amplitude still remained lower than controls (p<:0.0006), with an earlier acrophase (median 00:01 h). No significant correlation was found between individual GH and MT levels. Our data indicate a reduction of MT circadian secretion in acromegaly, due especially to a blunted nocturnal increase with earlier MT peak; moreover, acute octreotide administration increase MT levels without modifying amplitude and phase of night-time secretion significantly. These findings suggest a negative interrelationship between GH and MT secretions or a facilitatory influence of somatostatin on daytime MT release only. This partial recovery of pineal secretion after octreotide in acromegalics could be a clinically significant contribution to improve their quality of life, considering that MT is involved in the regulation of several important functions

Authors report on a rare case of thyroid involvement by histiocytosis X. A 27-yr- old man with diabetes insipidus and lung bullous disease of 2 yr duration was found to have thyroid gland infiltration by differentiated histiocytosis X. This was based on cytological findings consistent with the diagnosis, obtained by fine needle aspiration biopsy. Endocrine studies revealed altered hypothalamic-pituitary function accounted for by a hypothalamic lesion.

Abstract. Male pseudohermaphroditism in a 6 month old boy, due to congenital 3β-hydroxysteroid dehydrogenase deficiency, associated with atrial septal defect, is reported. At 2 weeks he required therapy for severe dehydration and projectile vomiting. The parents were first cousins and one female sibling had died suddenly at 2 months. The patient presented with melanoderma, perineal hypospadias with testicles in a bifid scrotum and atrial septal defect (ostium secundum). Complete cytogenetic studies showed a 46,XY karyotype. Serum sodium ranged from 129 to 140 mEq/l and serum potassium from 5.1 to 4.6 mEq/l. Basal plasma hormonal studies showed normal androstenedione (Δ4A), decreased cortisol (F), slightly elevated ACTH, 17-hydroxy-progesterone (17-OH-P) and testosterone (T), and highly increased dehydroepiandrosterone-sulphate (DHEA-S) levels. ACTH stimulation increased and DXM suppression decreased the plasma levels of DHEA-S, 17-OH-P and T but not that of F; hCG stimulation during cortisone therapy did not change the levels of DHEA-S and T. Corticosteroid therapy normalized electrolyte levels and reduced melanoderma and hormonal hypersecretion. Moderately elevated plasma levels of 17-OH-P and T suggest a partial testicular 3β-HSD deficiency. The multifactorial inheritance and the relatively high prevalence of atrial septal defect vs the rarity of adrenal enzymatic defect suggest a causal association even if a common genetic factor cannot be excluded.

The paper reports on precocious puberty and galactorrhoea in a 4 8/12 year old boy. Roentgenograms of the skull showed slight lateral bulging of sella floor and pneumoencephalography indicated a pituitary adenoma with a suprasellar extension. Pre-operative study of anterior pituitary function was normal except for increased values of LH (900 mIU/ml), testosterone (2000 ng/ml) and prolactin (215 ng/ml). After removal of a chromophobe pituitary adenoma by transfrontal surgery the galactorrhoea disappeared within 10 days. Post-operative endocrine evaluation showed immediate normalization of LH, testosterone and prolactin values.

The aim of this study was to determine if changes in IGF-1 levels and in final stature occur in blind adult subjects. Eighteen subjects (4 females and 14 males) with total blindness (Group 1) and 26 subjects (5 females and 21 males) with only light perception (Group 2), living at an Institute for blind adult subjects in Naples, Italy, were studied. Their height and weight were compared to British standards. Plasma morning IGF-1 levels, measured by IRMA method were compared to those of 18 normal controls (6 females and 12 males) matched for age and weight. A high prevalence of short stature was demonstrated especially in Group 1 (p=0.00005 by chi-square for trend test) but was also present in Group 2 (p=0.02). No alterations in weight distribution were observed in both groups. Basal IGF-I levels in both Group 1 and Group 2 were similar to those of controls: IGF-1 (M±SE), 30.9+2.9 nmol/L and 37.9±2.7 nmol/L, respectively, vs 33.3±2.9 nmol/L, NS. High prevalence of final short stature in both groups confirms a negative influence of total or partial blindness on growth. These complex mechanisms appear to involve more than alterations in GH and IGF-I secretion.

Findings on thyroid function in blind subjects are lacking. The aim of this study was to investigate the thyroid hormonal pattern in prepubertal blind subjects. Six healthy and 8 blind males, aged 7–10 yr, in Tanner stage one puberty, living at Institute “Martuscelli” for blind young subjects, Napoli, Italy, were studied. Each had a TRH (200 µg) test at 08:00 h after nocturnal rest. Plasma TSH, T4, T3, free T4(FT4), free T3(FT3) and cortisol (F) were measured by RIA. Our blind subjects show levels of TSH (basal values and absolute peak after TRH), T4, T3and F normal but FT4and FT3levels significantly higher than controls (39 pg/ml ± 4.7 vs12 ± 0.6, p< 0.001; 14 pg/ml ± 1.3 vs 4.7 ± 0.2, p< 0.001, respectively). Our results, similar to those found in some patients with euthyroid hyperthyroxinemia, suggest that the prolonged inability to receive light signal could influence the metabolism of thyroid hormones and/ or cause a tissue resistance to their action, even if this hypothesis must be verified by future more extensive investigations.

In 12 patients with primary hypothyroidism the somatotrophic and corticotrophic functions were evaluated before and after thyroxine treatment.The results confirm a significant decrease, reversible by treatment, of plasma HGH responses to insulin-induced hypoglycaemia and to arginine infusion. Moreover, the results indicate that the impairment of the hypothalamic-pituitary function may also involve the response of plasma ACTH after provocative tests (insulin-induced hypoglycaemia and metyrapone). It must be stressed that the impairment of the corticotrophic function can be revealed only when the responses to provocative tests are evaluated by a direct assay of plasma ACTH and not by plasma corticosteroid modifications. These different responses may account for the conflicting results obtained by other investigators and may be justified by the multiple interference of the thyroid deficiency with the hypothalamic-pituitary-adrenal axis at different levels.