A novel FOXL2 gene mutation and BMP15 variants in a woman with primary ovarian insufficiency and blepharophimosis-ptosis-epicanthus inversus syndrome.

Objective: This study aims to search for mutations in relevant genes in a woman with primary ovarian insufficiency (POI) and blepharophimosis-ptosis-epicanthus inversus syndrome (BPES).

Methods: This study reports on the case of a woman with POI, BPES, and autoimmune endocrine disorder. Bidirectional sequencing of the coding regions and intron/exon boundaries of FOXL2 and BMP15 genes and hormonal assays for the measurement of follicle-stimulating hormone, luteinizing hormone, estradiol, testosterone, Δ4-androstenedione, and dehydroepiandrosterone sulfate were employed.

Isolated adrenocorticotropin deficiency and flexion contractures syndrome.

We present a 73-year-old man with isolated adrenocorticotropic hormone deficiency and "flexion contractures" syndrome along with a review of the relevant literature. The patient initially presented anorexia, vomiting, arthralgias, malaise, and weight loss, which progressively deteriorated during the subsequent 6 months. He was admitted to the hospital with fever, confusion, severe cachexia, sinus tachycardia, low blood pressure, hyponatremia, and inability to stand or walk due to severe flexion contractures of the lower extremities (from hips to knees).

Maltoma of the thyroid and Sjögren's syndrome in a woman with Hashimoto's thyroiditis.

We report the case of a 70-yr-old woman with maltoma of the thyroid, Sjögren's syndrome, and a history of Hashimoto's thyroiditis. The patient underwent a total thyroidectomy for a recently growing mass of the thyroid, while being treated with L-thyroxine for Hashimoto's thyroiditis. Postoperatively, routine histologic examination was consistent with the diagnosis of chronic lymphocytic thyroiditis of autoimmune etiology.

Presence of systemic autoimmune disorders in patients with autoimmune thyroid diseases.

Objective: To evaluate the prevalence of antinuclear antibodies (ANA) in patients with autoimmune thyroid diseases (ATD) and the presence of systemic autoimmune disorders among ANA positive patients with ATD.

Methods: 168 consecutive patients with ATD with positive antithyroid antibodies and 75 healthy subjects were tested for the presence of ANA. ANA positive patients were further evaluated by complete history, physical examination, blood and urine tests, and immunological studies.

Estrogen receptor alpha gene analysis in osteoporosis and familial osteoporosis.

Estrogens are important determinants of bone mineral density (BMD) mediating their effects via estrogen receptor alpha (ERalpha) and beta (ERbeta). The strong genetic predisposition to osteoporosis, and the fact that alterations in the aminoterminal region of ERalpha have been linked to bone disturbances, prompted us to identify genetic alterations in exon 1 and exon 2 of ERalpha in osteoporotic individuals. Sixty-two unrelated normal subjects (age 46.

Isolated pituitary granuloma by atypical Mycobacterium in a nonimmunosuppressed woman.

A 32-year-old woman presented with a 10-day history of fever (38.0 degrees C), headaches, nausea, vomiting and a 6-month history of diabetes insipidus and amenorrhoea. Two months previously she had undergone a surgical drilling of the right mastoid area because of mastoiditis.

Cold thyroid nodule as the sole manifestation of Rosai-Dorfman disease with mild lymphadenopathy, coexisting with chronic autoimmune thyroiditis.

A case of thyroid Rosai-Dorfman disease (RDD) without apparent lymphadenopathy in a 49-year-old woman with underlying euthyroid chronic autoimmune thyroiditis, as indicated by high thyroid autoantibodies titers, is presented. The initial presentation was that of a cold, hypoechogenic nodule of left thyroid lobe which increased in size during the two years of follow up, together with new ultrasonographic findings of the right lobe. No biochemical abnormalities were found apart from mild hypercalcemia.

The contribution of vitamin D receptor gene polymorphisms in osteoporosis and familial osteoporosis.

It is well established that genetic factors play a major role in the pathogenesis of osteoporosis. Previous reports have suggested that vitamin D receptor (VDR) gene polymorphisms, particularly the BB, tt and AA genotypes, are associated with low bone mineral density (BMD). If these VDR genotypes are indeed an important determinant of BMD, then a population of related osteoporotic individuals (mother-daughter or sister-sister relationship) should have a high prevalence of the BB, tt or AA VDR genotypes.

Incidentalomas of the adrenal gland: diagnostic and therapeutic implications.

Incidentally discovered adrenal masses are common since the advent and application of sensitive noninvasive imaging methods. The significance of these so-called "incidentalomas" and the question of further evaluation or treatment remains elusive. This report describes a retrospective study of 86 patients with incidentaloma.

Sex hormone levels in the serum of patients with pancreatic adenocarcinoma.

The objective of this study was to evaluate the levels of several pituitary and gonadal hormones in pancreatic adenocarcinoma. We examined circulating levels of LH, FSH, Testosterone, Oestradiol, Progesterone and delta 4-Androstenedione in 36 patients with pancreatic adenocarcinoma, 12 patients with chronic pancreatitis and 87 age matched controls. According to our findings males with pancreatic cancer were found to have higher levels of FSH (p < 0.

Effect of growth hormone cotreatment with human chorionic gonadotropin in testicular steroidogenesis and seminal insulin-like growth factor-1 in oligozoospermia.

Objective: To study the GH synergy with hCG in testicular steroidogenesis and seminal insulin-like growth factor-1 (IGF-1) in oligozoospermia.

Setting: University endocrine unit.

Patients: Eight oligospermic, non-GH-deficient men.

Effect of testosterone administration, pre- and postnatally, on the immune system of rats.

This study was undertaken to investigate and compare in vitro and in vivo immune parameters between female and male rats. We analysed the T-cell proliferative responses to syngeneic and allogeneic cellular antigens (syngeneic and allogeneic mixed lymphocyte reaction), as well as the IgG levels in the sera of our study groups. It has also been studied the influence of gonadectomy and the effect of testosterone administration pre- and postnatally on the above parameters.

Seminal fibronectin-like antigen and transferrin concentrations in infertile and fertile men.

Fibronectin like antigen (Fn) and transferrin (Trs) levels were measured in the seminal plasma of 40 fertile and 102 infertile men. The concentrations of both proteins were significantly (P < 0.001) higher in the fertile controls compared to the infertile groups.

The contribution of hypogonadism to the development of osteoporosis in thalassaemia major: new therapeutic approaches.

Objective: The osteoporosis seen in thalassaemia major is of multifactorial origin. The aim of the study was to evaluate the contribution of hypogonadism to the development of this osteoporosis and to assess the efficacy of new sex hormone replacement therapy regimens.

Design And Patients: Sixty-seven patients were studied: 12 were hypogonadal, 32 had been on previous hormone replacement therapy (conjugated oestrogens plus medroxyprogesterone for females, depot testosterone esters for males); 10 had received continuous courses of treatment and 22 3-monthly on/off courses, and 22 were eugonadal without previous replacement therapy.

Increased 17-OH-progesterone levels following hCG stimulation in men with idiopathic oligozoospermia and raised FSH levels.

Leydig cell function was investigated in 71 men with idiopathic oligospermia and compared to 14 fertile controls by assessing the steroidogenic response to GnRH and the repetitive administration of hCG (1500 IU x3). The oligospermic men were divided into two groups according to their basal serum FSH values (FSH < 8, n = 35; FSH > 8, n = 36), this level being defined by the mean + 3 SD of the levels in normal men (3.71 + 4.

Adrenal hyperresponsiveness to ACTH stimulation in women with polycystic ovary syndrome: an adrenarchal type of response.

Adrenal responsiveness to ACTH stimulation (1 mg, i.m.) was assessed by measuring cortisol (Cort) and 17-hydroxyprogesterone (17OHP) at 0, 30, 60, and 90 minutes and progesterone (P), dehydroepiandrosterone (DHEA), dehydroepiandrosterone sulfate (DHEA-S), delta 4-androstenedione (delta 4A), and testosterone (T) at 0, 60, and 90 minutes post-ACTH in 30 women with polycystic ovary syndrome (PCO).

Paradoxical growth hormone response following thyroid-stimulating hormone administration in the polycystic ovary syndrome.

Growth hormone (GH) and prolactin (PRL) responses after TRH administration were studied in 31 women presenting with the clinical, biochemical and ultrasonographic characteristics of the polycystic ovarian (PCO) syndrome; their results were compared with those of 20 normally menstruating women investigated during the early follicular phase of the cycle. Based on the GH responses two PCO subgroups were observed: (a) nonresponders (n = 16) who showed delta max GH responses (0.7 +/- 0.

Heterogeneity of prolactin responses to oestradiol benzoate in women with prolactinomas.

Serum prolactin concentrations were measured for 72 h after intramuscular injection of 1 mg of oestradiol benzoate in six normoprolactinaemic women and nineteen with a prolactinoma (eleven with an obviously enlarged pituitary fossa and eight with a normal pituitary fossa). The group with an obvious tumour showed a rise in mean serum prolactin at 48 h to 122% of basal concentrations (p less than 0.05), and at 72 h to 137% of basal concentrations (p less than 0.

Results of three-times-per-week long-term administration of a luteinizing hormone-releasing hormone (LHRH) analog, D-Ser-(TBU)6-LHRH-(EA)10 in primary amenorrhea.

The effectiveness of a luteinizing hormone (LH)-releasing hormone (LHRH) analog, D-Ser-(TBU)6-LHRH-(EA)10 (Hoe 766), applied intranasally in a 3 days-per-week regimen, was assessed in four patients with hypogonadotropic or normogonadotropic primary amenorrhea by measuring LH, follicle-stimulating hormone (FSH), and estradiol (E2) levels before and 4 hours after its application and by observing the clinical effects of these hormones on the genital tract. The LH response increased progressively over the first 21 days (nine applications) in three of the four patients; it was subsequently reduced but never abolished throughout the study, which was terminated with the 25th application on the 59th day. Basal values of E2 increased until the 12th to 14th day (fifth or sixth application) and then showed a definite decline despite the continuing increase in LH response.

Prolactin and placental hormone levels during pregnancy in prolactinomas.

Prolactin (PRL) and the placental hormones, estradiol (E2), estriol (E3), progesterone (PG), chorionic gonadotropin (HCG), and placental lactogen (HPL) were serially measured throughout pregnancy and early postpartum in three patients with prolactinomas in whom pregnancy was achieved by one of the three modalities of treatment: bromocriptine administration (patient I), irradiation of the pituitary (patient II), and human gonadotropin administration after excision of the adenoma (patient III). It was found that PRL in patient I reached the high pretreatment levels in the 2nd month of pregnancy and increased to further abnormal concentrations in the last 2 months, but fell at the onset of labor 1 week after an episode of severe headache. The PRL changes in this patient were attributed successively to tumor expansion and apoplexy.