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Query: UMLS:C0028754 (obesity)
 124,988 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Androgens are a family of steroids hormones secreted by the adrenal glands and the ovaries in women. The adrenal secretion of androgens becomes significant around the age of 7, at the onset of adrenal activity, and increases until ovarian puberty. The excess of adrenal androgens, of which the main products are dehydroepiandrosterone and its ester sulfate (DHEAS), is unrelated to a classic deficiency of steroid biosynthesis. Blocking with small doses of dexamethasone (0.5 then 0.25 mg at night), demonstrates that the DHEAS may be blocked and rules out a tumor of the adrenal cortex. This treatment, which presents tolerance problems, is effective on acne, but ineffective on hirsutism which requires the use of antiandrogens. In addition to this idiopathic adrenal hyperandrogenism, the late manifestations of a congenital deficiency in 21-hydroxylase in a clinical picture varying from a mere obesity to moderate hirsutism, but may evolve to a syndrome of polycystic ovaries, is easy to diagnose with a basic 17-hydroxyprogesterone assay. In this case, adrenal blocking by dexamethasone often gives a spectacular clinical result. Isolated ovarian hyperandrogenism, is found in the various clinical forms of the polycystic ovaries syndrome. Usually, this syndrome is suggested by the anovulation, cause of sterility, hirsutism and overweight. Ovarian ultrasonography is often difficult to explain, particularly because of the non-univocal macroscopic appearance of the ovaries. Therefore, a great deal of emphasis is placed on the hormonal exploration which shows an elevated concentration of serum testosterone (T) and mostly of delta-4 androstenedione (A), combined with an elevated luteinizing hormone (LH) which should be determined on several successive samples.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Hyperandrogenism in premenopausal women]. 218 98

To investigate if obesity, as judged by increased body mass index (BMI), during childhood is associated with impaired adult stature in patients with 21-hydroxylase-type congenital adrenal hyperplasia (CAH), a retrospective analysis was carried out on outpatient records of 30 girls with CAH who had reached adult height. Height SD score for age (HtSDS(ca)), HtSDS for bone age (HtSDS(ba)), BMI and steroid dosage in early childhood (3.2-4.6 years) and later childhood (7.2-9.1 years), were compared with adult HtSDS (HtSDS(adlt)), adult HtSDS less mid-parental HtSDS (HtSDS(adlt)-HtSDS(mp)), predicted adult height SDS (HtSDS(pdct)), adult height SDS less predicted adult HtSDS (HtSDS(adlt)-HtSDS(pdct)) and age at menarche. Mean (SD) for HtSDS(adlt) was -1.13 (1.05), mean HtSDS(pdct) -0.12 (0.9) and mean age at menarche 13.5 (1.9) years. BMI in childhood was not correlated with HtSDS(adlt) but showed negative correlations with HtSDS(adlt)-HtSDS(mp) (r = -0.43; p < 0.02) and HtSDS(adlt)-HtSDS(pdct) (r-0.45; p < 0.02). BMI in later childhood showed negative correlations with HtSDS(adlt)-HtSDS(pdct) (r = -0.61; p < 0.001) and age at menarche (r = -0.63; p < 0.001). We conclude that in girls with early-treated CAH, a high BMI during early childhood is associated with loss of genetic height potential, and in later childhood with over-prediction of adult height and early menarche.
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PMID:Adult height in women with early-treated congenital adrenal hyperplasia (21-hydroxylase type): relation to body mass index in earlier childhood. 748 14

The detection of clinical hyperandrogenism in women presenting with infertility requires detailed hormonal investigations using the decisional plan suggested here. Initial studies including measurement of plasma androgen, gonadotrophic hormones and prolactin levels, may be sufficient to reveal an adrenal origin or pure ovarian origin. Non-tumor androgenic hypercorticism is seen classically in late-presenting enzyme deficits, but also in other situations: excessive adrenarche, hyperprolactinemia, obesity, chronic stress. The immediate Synacthene test can then eliminate diagnostic uncertainties if it leads to the discovery of appearances of 21- or 11-hydroxylase or 3 beta-ol dehydrogenase blocks. Intense virilisation in a woman with a testosterone level above 2 ng/ml (7 nM/l) should lead to suspicion of an androgen-secreting tumor of the ovary or adrenal. CT scan of the abdomen and true pelvis is essential here since it may reveal the presence of an adrenal or ovarian mass. If no morphological abnormality is shown by this investigation, an endocrine lesion of a small ovary should be strongly suspected, the demonstration of which requires isotope techniques and/or catheterisation of the ovarian veins. Two situations also exist which are responsible for severe hyperandrogenism but less alarming in terms of their course and significance: certain homozygous forms of 21-hydroxylase deficit diagnosed late and ovarian hyperthecosis. It may happen that these hormonal investigations do not suffice alone to determine the precise origin of hyperandrogenism and its cause. The dexamethasone adrenal suppression test is useful in the diagnosis of type II micropolycystic dystrophy, in order to define the essentially ovarian, adrenal or mixed origin of hyperandrogenism.
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PMID:[Diagnostic strategy in infertility due to hyperandrogenism. Development of a decision tree]. 803 86

Certain differences in regional fat distribution might be explicable by subtle hyperactivity of the hypothalamic-pituitary-adrenal (HPA) axis. We examined prospectively PA function relative to abdominal obesity defined by waist-to-hip circumference ratio (WHR) in 71 normotensive men aged 30-55 years. Basal PA activity was assessed by measurements of serum cortisol and plasma corticotropin (ACTH) concentrations during the oral glucose tolerance test (OGTT). Functional activity was examined by dexamethasone suppression and ACTH stimulation tests; responses of 17-hydroxyprogesterone (17-OHP), 11-deoxycortisol (S), cortisol, dehydroepiandrosterone (DHEA), and androstenedione were determined. When the subjects were divided into tertiles for the WHR, the ratio of mean ACTH to mean cortisol during the OGTT was increased (p < 0.05), and the ratio of urinary cortisol to body-mass index was decreased (p < 0.01), whilst the net increments of cortisol (p < 0.05) and 17-OHP (p < 0.05) from 0 to 60 min, as well as the ratio of 17-OHP to S increments (p < 0.05) after ACTH were elevated in the highest vs lowest WHR tertile. The ratio of mean ACTH to mean cortisol (r = 0.495; p < 0.001) during the OGTT, the ratio of net 17-OHP to S increments (r = 0.404; p < 0.001), and the net DHEA (r = 0.276; p = 0.020) and 17-OHP (r = 0.336; p = 0.005) responses to ACTH at 60 min correlated with WHR. In multivariate analyses the ratio of mean ACTH to cortisol, cortisol response to ACTH, and the ratio of net 17-OHP to S increments were all significant predictors of WHR independent of smoking, physical activity, and BMI explaining 49.0% of the variance in WHR. Thus, abdominal obesity may be associated with decreased activity of adrenal 21-hydroxylase. Either obesity-related functional alteration of 21-hydroxylase activity or the high carrier prevalence of genetic defects of this enzyme may explain these findings.
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PMID:Pituitary-adrenocortical function in abdominal obesity of males: evidence for decreased 21-hydroxylase activity. 880 94

A 60-year-old woman presented with a history of palpitations, headaches and severe hypertension, which was resistant to hypotensive agents. She had a 2-year history of obesity and a moon face. Her plasma adrenocorticotropic hormone level was below the limits of detection and did not respond to corticotropin-releasing hormone. Urinary-free cortisol was elevated and the circadian rhythm of serum cortisol level had completely disappeared. Imaging analysis demonstrated a unilaterally functioning mass in the left adrenal gland. Serum cortisol level in the left adrenal vein was elevated. The resected adrenal mass measured 4 x 3.5 x 2.5 cm, and ranged from yellow to tan in color. The adrenal cortex adjacent to the nodule did not demonstrate cortical atrophy. The mass was well circumscribed but not encapsulated, and consisted of multiple cortical nodules. These nodules were composed predominantly of clear cortical cells, and partly of compact cortical cells. Immunoreactivity of steroidogenic enzymes including cholesterol side-chain-cleavage P450, 3beta-hydroxysteroid dehydrogenase, 21-hydroxylase cytochrome P450, 11beta-hydroxylase cytochrome P450 and 17alpha-hydroxylase cytochrome P450 was marked in cortical nodules, but minimal in non-nodular cortex. Ultrastructural examination of nodular cortical cells also demonstrated well-developed mitochondria and smooth endoplasmic reticulum, consistent with elevated steroidogenesis in these cells.
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PMID:Adrenocorticotropin-independent unilateral adrenocortical hyperplasia with Cushing's syndrome: Immunohistochemical studies of steroidogenic enzymes, ultrastructural examination and a review of the literature. 1116 51

The development of Cushing's disease among patients with deficiency of 21-hydroxylase has not been observed to date. The clinical manifestations and the hormonal profile of this exceptional association are herein described through the study of two cases. The first one was a 39-yr-old woman who had undergone non-curative transsphenoidal surgery for a pituitary-dependent Cushing's syndrome 12 yr before. She showed hypertension, central obesity, severe hirsutism, alopecia and hyperpigmentation. Urinary excretion of cortisol was normal, but ACTH levels were very high and hormonal dynamic studies (cortisol circadian rhythm, insulin-induced hypoglycemia and dexamethasone suppression tests) revealed the qualitative disturbances that characterize Cushing's disease. Serum concentrations of androstenedione, free testosterone and 17-hydroxyprogesterone were clearly increased. Reexamination of the tissue samples from previous surgery confirmed the presence of an ACTH-producing pituitary adenoma. CYP21 gene analysis found the splicing 655G mutation at intron 2 and the V281L mutation at exon 7. The second case was a 21-yr-old woman who was diagnosed with pituitary ACTH-dependent Cushing's syndrome according to unequivocal clinical and laboratory findings. However, hirsutism was particularly severe and both serum androgens and 17-hydroxyprogesterone were elevated. The patient was heterozygote for a large conversion of CYP21 gene. In these cases, the clinical and biochemical expression of Cushing's syndrome was determined by the different severity of 21-hydroxylase deficiency and the subsequent residual ability of adrenal cortex to synthesize cortisol.
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PMID:Clinical manifestations and hormonal profile of two women with Cushing's disease and mild deficiency of 21-hydroxylase. 1571 59

This paper is a review of the literature about adrenal myelolipoma. It is a rare, benign, hormonally inactive tumor of the adrenal gland composed of mature fat tissue and hematopoietic tissue in varying amounts. Adrenal myelolipoma is usually small (< 4 cm), unilateral and causes no clinical disorders. The age range of the affected patients is 20-90 years; most are men in their fourth to sixth decade. This tumour is discovered during autopsy or USG, CT MRI of the abdomen usually by chance and because of that is included in the group of tumors called incidentaloma. Etiology of myelolipoma is unclear. It is usually hormonally inactive but there were several cases in which adrenal myelolipoma coexisted with various endocrine disorders such as Cushing's syndrome, Conn's syndrome, Addison's disease, hirsutism, hermaphroditism, inborn deficiencies of 17- and 21-hydroxylase. It is also more frequent in patients with obesity, hypertension and leading stressful life. Surgical treatment is called for when the diameter of tumor reaches more than 4 cm, tumour shows tendency to fast growth or causes clinical disorders. In cases of small lesions, that show no progression, it is advised to observe the tumor using imaging techniques.
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PMID:[Adrenal myelolipoma]. 1585 62

The phenotypes of the polycystic ovarian syndrome (PCOS) and congenital adrenal hyperplasia syndrome (CAHS) present a number of similarities. The main symptoms of PCOS are obesity, menstrual disorders, hirsutism, and low fertility in which the pituitary and adrenal glands are spared. The CAHS is a group of various entities all characterised by different degrees of malfunction of the 21-hydroxylase (CYP21) enzyme. The consequences are a downfall of the levels of aldosterone and cortisol, and the hyperproduction of adrenal androgen hormones. It is capital to be able to recognise these 2 entities in terms of identification of high risk families because the female foetuses suffering from CAHS will undergo severe virilization of there genitals in utero, which can efficiently be prevented by a administration of corticotherapy to the mother throughout the pregnancy.
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PMID:[Polycystic ovary syndrome and congenital adrenal hyperplasia: a different entity for comparable phenotypes?]. 1772 72

Congenital adrenal hyperplasia (CAH) due to deficiency of the enzyme 21-hydroxylase (21-OH), is distinguished in its classical and nonclassical form and is one of the most common autosomal recessive inherited diseases in humans. The classical form appears between 1:5000 and 1:15000 among the live neonates of North America and Europe, whereas the nonclassical form occurs in approximately 0.2% of the general white populations. Three alleles are associated with the 21-OH locus and can be combined in various ways to individuals who are either unaffected, heterozygote carriers, or affected with the classical or nonclassical disease. Variable signs and symptoms of hyperandrogenism are common to both types of the disorder. In women with CAH, hyperandrogenism may be present, extending from virilization of external genitalia and salt-wasting in classical (C)-CAH cases, to menstrual irregularity, obesity, short stature, infertility or subfertility and skin disorders such as hirsutism, in nonclassical (NC)-CAH cases. These clinical characteristics of NC-CAH cases do not differ unmarkedly from those shown in patients with polycystic ovary syndrome, idiopathic hirsutism, or hyperinsulinemia. The significant advances in molecular biology and gene analysis over the past 2 decades have led to the development of novel sensitive methods of DNA analysis and study, including polymerase chain reaction and Southern blot analysis. Thus it has been revealed that the 21-OH gene (CYP21A2) and its nonfunctional pseudogene (CYP21A1P) are located on chromosome 6 (6p21.3), sharing a high homology of about 98%. Inactivating mutations occur as complete gene deletions, large gene conversions and pseudogene-derived mutations.
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PMID:Congenital adrenal hyperplasia because of 21-hydroxylase deficiency. A genetic disorder of interest to obstetricians and gynecologists. 1922 39

There are few reports of an association between Turner syndrome (TS) and 21-hydroxylase deficiency. However, this association is more frequent in some populations. The aim of this study was to evaluate the incidence of 21-hydroxylase deficiency in patients with TS in our population. 21-hydroxylase deficiency was evaluated in 44 TS cases with 45X (n=20) and 24 mosaic cases. A standard dose adrenocorticotropic (ACTH) stimulation test (Synacthen, Novartis, Basel, Switzerland) was performed, and 17 hydroxyprogesterone (17OHP), dehydroepiandrosterone sulfate (DHEAS) and cortisol responses were evaluated. Patients with increased 17OHP responses in the stimulation test also underwent 21-hydroxylase gene analysis. The mean age was 14.6 +/- 4 (2.6-22.4); 37 patients were on growth hormone (GH) treatment. Nine patients were at prepubertal stage, whereas 35 were pubertal (24 on gonadal steroids and 11 spontaneously). Six patients were obese. Only one of our patients had a level of 7.5 ng/mL of 17OHP, and there was no mutation found in congenital adrenal hyperplasia (CAH) genetic analysis. In other cases, peak 17OHP levels were < or = 6 ng/mL. The mean peak 17OHP was 2.62 +/- 1.48 (1.19-7.5) ng/mL, the cortisol level was 37.6 +/- 8.43 (23.9-56.2) microg/dL and the DHEAS was 135.2+/- 87.3 (15-413) microg/dL. The increased mean basal and peak cortisol levels (20.5 +/- 10.2 and 37.6 +/- 8.4 microg/dL) were remarkable findings. Whereas basal cortisol was above 20 microg/dL in 38.7% of patients, exaggerated results up to 56.2 microg/dL were obtained in peak cortisol levels. The basal and peak 17OHP cortisol levels were not correlated with the presence of puberty, chromosome structure, gonadal steroid use, obesity or growth hormone use. This trial suggested that 21-hydroxylase deficiency was not common among patients with TS in our population. Adrenal function should be assessed, at least in the presence of clitoral enlargement in patients with TS, particularly if their karyotype does not contain a Y chromosome.
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PMID:Assessment of the 21-hydroxylase deficiency and the adrenal functions in young females with Turner syndrome. 2315 93


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