Paratesticular tumours in a patient with Nelson's syndrome.

An extremely rare case of a 39-year-old man with Nelson's syndrome and paratesticular tumours is presented. The patient had undergone bilateral adrenalectomy at the age 23 years for Cushing's syndrome. Later he developed skin and mucosal hyperpigmentation. Nelson's syndrome was diagnosed, and he underwent transfrontal hypophysectomy. At age 29, the presence of paratesticular tumours was noted which were excised together with the left testis. The preoperative levels of testosterone, produced by the paratesticular tumours, were extremely high; they fell after surgery.

Separation of pseudohypoparathyroidism into types I and II using only basal nephrogenous cAMP determinations.

The separation of pseudohypoparathyroidism (PHP) into Type I (non responders, usually with signs of Allright's hereditary osteodystrophy--AHO--and resistance to other hormones secretion) and Type II (responders) is classically done with the parathyroid hormone (PTH) infusion test using as criterion of cellular response total urinary cAMP determinations. But since total urinary cAMP is not an accurate index of intracellular cAMP production from the renal tubular cells--as is nephrogenous cAMP (NcAMP)--it was considered worthwhile to examine the diagnostic value of NcAMP in this case. A total of 12 PHP patients were studied along with 19 controls of corresponding age and sex. All 31 persons underwent--inter alia--to a 2 hrs I.V. PTH infusion test with 500 I.U. of human 1-34 PTH. Using as criterion total urinary cAMP, the PHP patients were separated into Type I (7 patients, of whom 5 with AHO) and Type II (5 patients). The same results were obtained when the NcAMP stimulation values were used instead, although in PHP Type II patients the mean increase of NcAMP at the end of PTH infusion was 2 fold than the corresponding increase of total urinary cAMP. But the most impressing finding was that the separation of PHP patients to the Types I or II was possible by using the basal NcAMP values only (NcAMP basal values ranged from 0.35 to 0.56 nmols/100 ml GFR in Type I and from 0.93 to 1.75 in Type II PHP). These results render possible the use of NcAMP basal values as a screening test for the separation of PHP patients into Types I and II.

The effect of cimetidine on parathyroid function and histopathology in primary hyperparathyroidism.

Recent evidence suggests that cimetidine given pre-operatively in primary hyperparathyroidism (1 degree HPT) might cause structural changes in parathyroid glands, while its suppressive effects on the disease are disputable. To determine these possible changes we studied 38 patients with 1 degree HPT who underwent parathyroidectomy. In 14 of these (group I) cimetidine was given pre-operatively (1000 mg orally daily for 4 weeks). The remaining 24 patients (group II) did not take any drug. Parathyroid function was estimated by nephrogenous cAMP (NcAMP) and serum immunoreactive parathyroid hormone (iPTH) measurements. Histological examination of the parathyroids was made by conventional techniques. In group I at the end of cimetidine treatment, the only change observed was a small but significant (p less than 0.05) decrease of plasma calcium (-0.77 mg/dl). Histologically, the glands of group I--compared with those of group II--showed the following findings: increased gland mass: mean increase 1050 mg (adenomas) and 700 mg (hyperplasias); central oedema in all the cases of group I only; increased (about 50 per cent) cellular size and intranuclear 'inclusions' in 10 out of 14 cases of group I only. It is concluded that treatment with cimetidine in 1 degree HPT is followed by histopathologic alterations leading to increased size of the diseased parathyroids.

Spontaneous sexual development and menarche in a female with 17 alpha-hydroxylase deficiency.

Case report of a 46-year-old female with clinical and laboratory findings typical for 17 alpha-hydroxylase deficiency who had spontaneous menarche and thereafter regular menses until the age of 28, when menstruation stopped after right and left ovariectomy at the age of 27 and 28 yr, respectively. Common and electron microscopy study of one (left) excised adrenal showed no recognizable histological zones, nodular hyperplasia of the cells found normally in the zona fasciculata and complete absence of the cells of the zona glomerulosa. Treatment of hypertension with spironolactone (for 20 days) and aminoglutethimide (for 15 days) was ineffective, while glucocorticosteroid treatment was highly successful.

Radioiodine-131 treatment of thyrotoxicosis: dose required for and some factors affecting the early induction of hypothyroidism.

The results of sodium iodide 131I treatment of thyrotoxicosis in 1,168 patients (302 males, 866 females; 58.5% diffuse and 41.5% multinodular toxic goitre) are presented. At the end of the 1st year post-treatment, 54.4% were hypothyroid, and the incidence of hypothyroidism after the 2nd year increased by 3% per year. When the results were analysed according to the calculated radiation dose the thyroid, it was found that the cumulative incidence of hypothyroidism from 6 months to 2 years post-treatment rose almost proportionally to the dose in cases of doses of 1,500-15,000 rad, but increased very little for higher doses; however, the long-term incidence of hypothyroidism was almost independent of the thyroid dose. Multivariate analysis showed that the results of 131I therapy at 6 months depended also on sex (treatment being more effective in women), the consistency of the thyroid gland and the year of treatment, with the same radiation dose giving a higher incidence of hypothyroidism in patients treated recently, in comparison to those treated early in the period studied. Of the patients treated in the period 1978-1982 (mean dose, 300 microCi/g), 93.5% were cured with a single dose of 131I, and 78% were hypothyroid at 6 months post-treatment.

HLA antigens in Greek patients with thyrotoxicosis (Graves' disease and toxic nodular goiter).

HLA-A and B-antigens were tested by a standard microlymphocytotoxicity technique in 126 controls and 225 thyrotoxic patients of Greek origin [173 with Graves' disease and 52 with toxic nodular goiter (TNG)]. We found: i) an increased frequency of HLA-B8 (21.4% versus 7.1%) and a decreased frequency of HLA-B12 (2.9% versus 18.2%) in Graves' disease when compared with controls; ii) no differences in the distribution of HLA-A, -B antigens in TNG, when compared with either controls or Graves' disease. These findings suggest that the associations between HLA-A, -B antigens and Graves' disease in Greek patients are similar to those reported in other caucasians. The absence of any correlation between HLA-A, -B and TNG provides additional laboratory evidence that TNG and Graves' disease represent different entities.

Volume of sella turcica in normals and patients with peripheral endocrinopathies or idiopathic gonadotropin deficiency.

The volume of sella turcica (VST) was estimated from x-ray films in i) 883 control subjects (507 men and 376 women), ii) 135 adult patients with peripheral endocrine gland insufficiences (71 of the thyroid, 15 of the adrenals and 49 of the gonads) and iii) 41 adult patients with idiopathic gonadotropin deficiency. The mean VST value of men (1356 +/- 22 mm3) was significantly lower (p less than 0.05) than that of women (1428 +/- 25 mm3). This difference resulted from a progressive increase of VST in women after the age of 45 (r = 0.254, p less than 0.001); the mean VST value of women aged less than 45 years (1301 +/- 33 mm3) been similar to that of men (p less than 0.05). VST was significantly (p less than 0.001) increased in peripheral endocrine insufficiences, this increase varying approximately between + 30% and + 55% of the mean volume of normals according to the endocrinopathy. Definitely abnormal sella turcica (VST larger than + 2SD) were observed in a percentage smaller than 27% of the cases in all groups. Furthermore, the increase in VST was significantly related to the severity of the disease in primary hypothyroidism (p less than 0.001) and the duration of the abnormal condition in Addison's disease and primary gonadal failure (p less than 0.001). Finally, VST was found within normal limits in patients with idiopathic gonadotropin deficiency. It is concluded that natural (menopause) or pathological peripheral endocrine insufficiency leads to VST enlargement which exceeds the upper normal limits in less than 27% of the cases.

A familial X/Y translocation in a boy with ichthyosis, hypogonadism and mental retardation.

A 14-year-old boy is described with hypogonadism, ichthyosis and mental retardation. His karyotype was 46,Y, der(X),t(X;)(p22;q11). His mother's karyotype was 46,X,der(X),t(X;Y)(p22;q11). Thus the son is nullisomic for the region Xp22 leads to pter and the mother is monosomic for the same region. The steroid sulfatase activity in this boy is discussed in relationship to the enzyme's locus on the X chromosome and the manifestation of ichthyosis.

Seminal plasma zinc and magnesium in infertile men.

Levels of zinc and magnesium were estimated in the seminal plasma of 83 men having various infertility problems. There was a wide overlapping of Zn and Mg mean values among the groups of normal and infertile men, a significant reduction in Mg mean value (but not Zn) only in the group with infection of the accessory genital glands, a very high positive correlation between Zn and Mg mean values in all groups, and a high positive correlation between either Zn or Mg and acid phosphatase (but neither fructose nor sperm count and forward progression) in men with infection, but not in the other groups. Measurement of Mg in seminal plasma can, in combination with other parameters of prostatic function, give useful information regarding male infertility problems, particularly in the case of infection of the accessory genital glands.

Creatine kinase in seminal plasma of infertile men: activity and isoenzymes.

Creatine kinase (CK) activity was determined in the seminal plasma of 169 men divided in a) 11 groups according to etiological diagnosis of infertility and b) 2 groups on the basis of the normal or abnormal spermiogram. Electrophoretic separation of CK isoenzymes on agarose gel was also performed. We found that: 1) in seminal plasma enzyme activity is 4.2 times higher than the upper limit in normal serum, 2) CK activity in seminal plasma is exclusively due to the isoenzyme BB (CK1). 3) there is a statistically significant difference of the enzyme levels between men with normal spermiogram and oligo-asthenozoo-spermics, yet with wide overlapping of the individual values, 4) there is no correlation between CK activity and the variables of the spermiogram, as well as between enzyme activity and fructose or acid phosphatase in seminal plasma.

[Incidence of anaemia in congenital heart diseases (author's transl)]. / Incidenza dell'anemia nelle cardiopatie congenite.

Hemoglobin (Hb), hematocrit (Hct) and mean corpuscular hemoglobin concentration (MCHC) were determined in 36 acyanotic and 38 cyanotic patients with congenital heart disease. Serum iron (SI) was also determined in 16 cyanotic patients. Patients were classified as follows: Gp I, 0.5-5 years old and Gp II, 6-12 years. In acyanotic patients, anaemia (Hb 11 gr%) was present in 35% for Gp I and 18.7% for Gp II (Hb 11.5 gr%), a figure which is similar to the general Greek children's population. In cyanotic patients which have normal or high Hb concentration, when SI was used as an index, anaemia (SI 60 g%) was found in 37.5% for Gp I and 12.5% for Gp II. Furthermore, when using as index the MCHC the percentage of anaemia (MCHC 31%) was further increased in those patients (44% for Gp I and 23.8% for Gp II). Four cyanotic infants with MCHC 31% developed cerebrovascular accidents. The data show 1) that the MCHC is a convenient and accurate index of iron deficiency anaemia in children with cyanotic heart disease and 2) that the incidence of hypochromic anaemia is high in cyanotic patients.

Partial reversal of the defect in intestinal calcium absorption during the course of regular hemodialysis.

The coefficient of true intestinal calcium absorption (a value) was measured by a double radioisotope technique in 24 patients treated by regular hemodialysis for 2--46 months. The mean a value of these patients was significantly below normal (p less than 0.001). 18 of them were studied a second time after an interval of 12 months. Values at 12 months were higher than the corresponding initial values (p less than 0.001). There was a trend to higher a values in the patients treated for longer periods of time. It is concluded that the defect in calcium absorption tends to reverse during the course of regular hemodialysis.