Thirteen novel mutations in the NR0B1 (DAX1) gene as cause of adrenal hypoplasia congenita.

X-linked adrenal hypoplasia congenita (AHC) is a rare developmental disorder associated with primary adrenal insufficiency and combined primary and secondary male hypogonadism. It is caused by deletions or mutations of the NR0B1 (DAX1) gene encoding DAX1, an atypical orphan member of the nuclear receptor superfamily. The continuous molecular genetic analysis of male patients with primary adrenal insufficiency revealed 13 novel mutations within the coding region of the NR0B1 gene which are predicted to inactivate the DAX1 function.

[Chronic distress syndrome in patients with Graves' disease].

Purpose: Cross-sectional study to evaluate the psychological distress of patients with Graves' disease 5 years after diagnosis.

Patients And Methods: 45 female patients being treated for Graves' disease in a specialized endocrinological practice in Wuppertal, Germany, were asked to fill in the Symptom Checklist-90-R (SCL-90-R) and the Hospital Anxiety and Depression Scale (HADS). All patients were in a euthyroid state for at least 6 months.

Ganglioglioma of the neurohypophysis with secretion of vasopressin.

A patient with a ganglioglioma of the neurohypophysis developed the syndrome of inappropriate antidiuretic hormone secretion (SIADH). We present the case and describe its microscopic and ultrastructural features. Malignant neoplasms were thought to be the main cause of ectopic production of vasopressin.

Effect of small doses of iodine on thyroid function in patients with Hashimoto's thyroiditis residing in an area of mild iodine deficiency.

Objective: Several studies have suggested that iodine may influence thyroid hormone status, and perhaps antibody production, in patients with autoimmune thyroid disease. To date, studies have been carried out using large amounts of iodine. Therefore, we evaluated the effect of small doses of iodine on thyroid function and thyroid antibody levels in euthyroid patients with Hashimoto's thyroiditis who were living in an area of mild dietary iodine deficiency.

[Methods and clinical evaluation of a new enzyme immunologic method for determination of thyroxin binding globulin (TBG) and T4/TBG quotient: a multicenter study].

A heterogeneous enzyme immunoassay for the determination of thyroxine binding globulin (TBG) was developed and assessed in clinical trials in 12 laboratories. The assay is based on the competition principle and employs plastic tubes coated with goat anti-TBG. CV's between 1.

[Thyroid gland diseases in old age. Clinical aspects and therapy. Part 2: Hypothyroidism, bland struma, thyroid gland neoplasms].

Because of the slow lingering course of this disease, the diagnosis of hypothyroidism is generally made by chance particularly because the euthyroidism can change unobserved into manifest hypothyroidism. In old age the course of hypothyroidism may be oligosymptomatic: only adynamia and abnormal susceptibility to cold may be diagnosed. Because of the augmented oxygen requirement of tissues during therapy with thyroid hormones the medical treatment of hypothyroidism has to start - especially in old age - with a fractional part of the final dose.

[Thyroid diseases in old age. Clinical aspects and therapy. Part 1: Hyperthyroidism].

The clinical signs of thyroid disease in older people may differ considerably from those in younger patients. The symptoms are often incorrectly interpreted and attributed to old age. The age is also important to the kind of therapy.

Thyroid function and thyroid hormone metabolism in elderly people. Low T3-syndrome in old age?

T4-, T3- and reverse-T3 concentrations were measured in the sera of 365 subjects beyond the age of 65 in order to evaluate if the decrease of serum T3 frequently observed in old age can be attributed to old age per se or to concomitant nonthyroidal disease. The results obtained from a carefully selected healthy group of elderly people show that 1) total and free T3 levels are lower in senescence but well within the range for euthyroidism in younger healty controls;2) the decrease of serum T3 is more pronounced and occurs earlier in healthy old males than in females, so that for subjects over the age of 75, the upper limit for euthyroidism has to be adjusted by 10% in women and by 20% in men; and 3) there is no low T3 syndrome characterized by decreased serum T3 and increased serum reverse T3, solely due to old age. Turnover kinetics have shown the daily production of T4 and T3 in old age to decrease by 20 micrograms and 10 micrograms, respectively, and an increased T3 metabolic clearance not to account for the reduction of serum T3 concentrations.

[Thyroxine-binding globulin (TBG). Clinical studies on the regulation of TBG concentration in serum and the value of TBG for the evaluation of thyroid function].

1. The radioimmunoassay (RIA) and the competitive ligand binding assay (CLBA) are convenient routine methods for the precise and reproducible measurement of TBG in large numbers of serum samples. 2.

[Diagnostic procedures in diencephalo-hypophyseal insufficiency (author's transl)].

A functional diagnosis of the diencephalohypophyseal system was carried out in patients with Sheehan syndrome, chromophobic adenoma, craniopharyngioma, prolactin-producing pituitary tumours, acromegaly, hypothalamo-pituitary dwarfism and constitutional retardation. A combined insulin hypoglycaemia/LH-RH/TSH test was performed to define frequency and extent of anterior pituitary insufficiency. With these illnesses, almost generally, a somatotropic insufficiency (except in acromegaly) was found.

[Effect of estrogen upon thyroid metabolism (author's transl)].

During enhanced endogen estrogen production (pregnancy) as well as during exogen estrogen application a rise occurs in TBG concentration in serum, which seems to be dose related. Simultaneously with the TBG there is an increase in total T4 and T3; the concentrations of the free T4 and T3 however decrease. Towards the end of pregnancy AFT4 is significantly decreased, compared to the controls, AFT3 being in the lower normal range.

Non-glucoregulatory hormones (T4, T3, rT3, TSH, testosterone) during physical exercise in juvenile type diabetics.

Non-glucoregulatory hormones (T4, T3, rT3, TSH and testosterone) were studied by radioimmunoassay in juvenile-type diabetics in moderate control and in ketosis due to insulin withdrawal and in age matched "normals" during a mild prolonged exercise test. The basal serum hormone levels revealed the following findings: Serum testosterone was markedly lower in diabetics than in normals ( 177 +/- 24 resp. 618 +/- 52 ng/dl).

[False radioimmuno-assay of thyroxine and triiodothyronine in the presence of hormone-binding autoantibodies in serum (author's transl)].

Radioimmunoassay of thyroxine and triiodothyronine in a 14-year-old girl with primary hypothyroidism and nodular goitre as a result of Hashimoto's thyroiditis gave falsely low values due to the presence of hormone-binding antibodies. Such antibodies occur in Hashimoto's thyroiditis and thyroid carcinoma. Their presence requires special methods for determining these hormones.

[Measurement of thyroxine binding globulin by competitive ligand binding assay (CLBA) (author's transl)].

The competitive ligand binding assay (CLBA) first described by Chopra et al. ((1972) J. Clin.