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Gonadotrophin receptor blocking antibodies measured by the use of cell lines stably expressing human gonadotrophin receptors are not detectable in women with 46,XX premature ovarian failure.

BACKGROUND: Premature ovarian failure (POF) is defined by cessation of ovarian function after puberty and before the age of 40. The syndrome is characterized by amenorrhoea, oestrogen deficiency and elevated levels of gonadotrophins. Autoimmunity has been proposed as a mechanism for some cases of destruction or malfunction of ovarian follicles. POF is often associated with type I and type II polyglandular autoimmune syndromes. It has also been postulated that receptors such as the LH and FSH receptors might become targets for blocking antibodies and such antibodies could be a cause of ovarian failure. PATIENTS AND METHODS: Sixty-nine patients with POF isolated or associated with other endocrine autoimmune diseases (autoimmune thyroid diseases, Addison's disease, type 1 diabetes mellitus, multiple sclerosis, myasthenia gravis) were studied. All the patients had secondary amenorrhoea. The patient group had a median age of 33.1 years (range 15-57). Ovarian failure had been diagnosed at a median age of 29 years (range 15-39). The median time since diagnosis was almost 1 year but in six patients gonadal insufficiency had appeared 10-30 years earlier. All had a normal chromosomal karyotype (46, XX). Patients with POF were characterized by duration of amenorrhoea > 1 year, with elevated FSH and LH levels and undetectable or low oestrogen levels. Cell lines stably expressing recombinant human LH (CHO-LHr) and FSH (CHO-FSHr) receptors were prepared and used to search for antibodies able to inhibit LH- or FSH-stimulated cAMP production. Immunoglobulins extracted from sera of patients with POF were incubated with CHO-LHr and CHO-FSHr in the presence of human recombinant CG and FSH, respectively. RESULTS AND CONCLUSIONS: None of the immunoglobulin G (IgG) preparations from patients with POF was able to inhibit the activity of the FSH- and CG-stimulated cAMP production.

Adolescent↗

Venous thrombosis associated with lupus anticoagulant and anticardiolipin antibodies.

We describe deep vein thrombosis associated with lupus anticoagulant and anticardiolipin antibodies in three children aged 10 to 14 years. One of them also had arterial thromboses. None of the patients had systemic lupus erythematosus when the thrombosis first occurred, but one fulfilled the criteria for systemic lupus erythematosus 3 years later. At presentation all had symptoms suggestive of pulmonary embolism and evidence of an autoimmune disease: Addison's disease in one, anti-DNA or antinuclear antibodies in all three, and a positive Coombs' test in two. Two of the three gave a false-positive test for syphilis. In the patient with systemic lupus erythematosus recurrent thrombocytopenia and severe haemolytic anaemia necessitated splenectomy. A child should be tested for lupus anticoagulant or anticardiolipin antibody if venous or arterial occlusion occurs without a known predisposing cause, or if there is pulmonary embolism or symptoms or laboratory findings suggestive of a connective tissue disease.

Adolescent↗

Estimation of urinary unconjugated androstenedione, dehydroepiandrosterone, testosterone, cortisol, aldosterone and 18-hydroxycorticosterone as a potential tool for assessing adrenal status.

A method is described for the simultaneous assay of non-conjugated androstenedione, dehydroepiandrosterone, testosterone, cortisol, aldosterone and 18-hydroxycorticosterone in urine. The method involves solid-phase extraction, automatic high performance liquid chromatography and subsequent radioimmunological quantitation of the individual steroids. Excretion rates of these urinary free steroids were determined in normal males and females. There were no significant sex differences in excretion rates, although both urinary free testosterone and dehydroepiandrosterone were distinctly lower in females than in males. Representative measurements of the excretion rates of patients with Cushing's disease, Addison's disease, ectopic corticotropin syndrome and hirsutism were made. The present method has been shown to be well suited for routine purposes. Its final diagnostic significance for monitoring alterations in glucocorticoid, mineralocorticoid and androgenic activity of the adrenal cortex has yet to be explored.

18-Hydroxycorticosterone↗

Bilateral giant adrenal myelolipomas: a case report.

Myelolipoma is a relatively rare benign tumor composed of fatty tissue and bone marrow elements. It is frequently associated with the adrenal glands but may exist as a solitary mass elsewhere. Adrenal myelolipomas are typically nonfunctioning and asymptomatic. They may be associated with an endocrine disorder such as Cushing's disease, Addison's disease, or hyperaldosteronism; however they are most often discovered incidentally. Their size is usually less than 5 cm and they are managed nonoperatively. We report a case of bilateral giant adrenal myelolipoma producing abdominal pain in a 54-year-old man, who presented to his primary care physician with complaints of right shoulder pain with vague abdominal discomfort. Imaging studies identified bilateral suprarenal masses measuring 12 x 14 cm on the right and 8 x 10 cm on the left. These masses were consistent with fatty tissue radiographically. In addition a focal 5 x 4-cm mass was identified in the transverse colon. Because the patient was symptomatic and a diagnosis of liposarcoma could not be excluded he was taken to the operating room for exploratory laparotomy with excision of the masses and a transverse colectomy. Final histologic analysis identified bilateral adrenal myelolipomas and a solitary lipoma of the transverse colon. His postoperative course was uneventful with relief of the pain. Despite its benign nature and rare growth beyond 5 cm myelolipoma of the adrenal gland is best managed with excision in the symptomatic patient. Preservation of adrenal tissue is vital so as not to commit patients to a lifetime of steroid replacement.

Abdominal Pain↗

[Giant myelolipoma of the adrenal gland].

INTRODUCTION: Myelolipoma is a rare benign tumor of adrenal gland, composed from a fatty tissue and hematogenous elements. It may be associated with endocrine disorders such as androgyneity, Cushing's disease, Addison's disease and other causes including obesity. It may also occur as a soft-tissue mass in various regions, especially in the area of small pelvis. Giant myelolipomas of adrenal gland have rarely been described in the world literature and it was considered useful to describe this case. CASE REPORT: A 54-year woman was examined in an internal ward for arterial hypertension and an ultrasound abdominal examination was therefore indicated. The finding was later confirmed by CT examination, which demonstrated a sizable expansion with fatty densities and a stroma, which was slightly more visible after the administration of a contrast compound, projecting in the region of the right adrenal gland. CONCLUSION: The formation is most probably a myelolipoma. No disease-related symptoms were detected. A surgical extirpation of three tumors of the same character was made. The diameter of the largest tumor was at least 140 mm. The diagnosis of myelolipoma was confirmed by histological examination. The patient was cured up and released from the hospital on day 12 after the operation. CONCLUSIONS: The tumor is without symptoms in most cases, but bleeding or rupture may occur. It is rarely associated with endocrine disorders. Etiology is so far not clear. The diagnosis can be established by US, CT or MR examination. The operation is indicated in patients with symptoms, tumor of large size, in case of bleeding etc. Small tumors may be followed subsequently. The surgical intervention, extirpation of the tumor, may also be done by laparoscopy. This paper appears to be the first published information about myelolipoma of adrenal grand, especially of such considerable size, in the Czech medical literature.

Adrenal Gland Neoplasms↗

[Technical notes and clinical use of radioimmunologic determination of plasma ACTH].

Particular aspects of plasma ACTH radioimmunoassay are examinated. The results obtained with this method in adrenocortical diseases (Addison's disease, Cushing's syndrome, congenital adrenal hyperplasia) are reported and clinical value in etiological diagnosis of Cushing's syndrome is outlined. Moreover the results obtained in other syndromes of endocrinologic interest (massive obesity, Turner's and Klinefelter's syndromes, Laurence-Moon-Biedl syndrome, true precocious puberty, primary hypothyroidism, hypopituitary dwarphism) are reported and discussed.

Adolescent↗

[Successful course of pregnancy in a patient with polyglandular Schmidt's syndrome treated with hormonal replacement therapy].

Schmidt's syndrome is characterized by the existence of adrenal insufficiency and lymphocytic thyroiditis, yet, it can also be accompanied of some other autoimmune diseases. Addison's disease usually produces infertility due to chronic anovulation, but patient who are properly treated can still be fertile. There are few reports of pregnancy and Schmidt's syndrome, this work presents a case treated with hormonal substitution therapy and successful obstetric outcome.

Adult↗

Addison's disease presenting as anorexia nervosa in a young man.

A young man with a long history of obsessional traits and food fads presented with anorexia, vomiting and marked weight loss. He showed little concern for his physical state and his vomiting was frequently witnessed as self-induced. A diagnosis of anorexia nervosa was made and he took his own discharge from hospital. He was readmitted one month later, severely cachectic and with biochemical abnormalities consistent with advanced Addison's disease which was subsequently confirmed. He responded dramatically, both mentally and physically, to corticosteroid therapy. It is likely that anorexia nervosa, relatively rare in males, was a manifestation of the psychological abnormalities commonly seen in severe Addison's disease.

Addison Disease↗