1/6. anorexia nervosa in congenital adrenal hyperplasia: long-term follow-up of 4 cases.Studies which evaluate the psychosocial development and integration of adult female congenital adrenal hyperplasia (CAH) patients are rare but show that patients with the salt wasting form are significantly more virilized and more frequently single and childless. Major complaints are irregular menstruation, hirsutism, acne, obesity, deep voice, and cushingoid features. Surprisingly, a higher prevalence of psychosomatic disorders has not yet been described. Since anorexia nervosa (AN) has not yet been described in patients with CAH, we here report 4 cases of female CAH patients who developed AN during adolescence. diagnosis of CAH was made between the age of 10 days and 3 years. Three patients suffer from the simple-virilizing form of CAH, one patient has a mild salt wasting CAH. Genital malformation varied from Prader stage II to IV. All 4 patients were compound heterozygotes for mutations/deletions of the CYP21B gene. Control of substitution therapy consisting of hydrocortisone and fluorocortisone was good. AN developed at ages 12, 13, 17, and 21 years (ICD 10 criteria for AN are BMI below 17.5 kg/m2, deliberate weight loss, body image disturbance, and primary or secondary amenorrhoea). diagnosis of AN was established by psychiatrists and/or psychologists. All four patients showed an impressive and deliberate weight loss between 13 and 20 kg within 6 months, had primary or secondary amenorrhoea, and presented with BMI between 13 and 17.9 kg/m2. All patients received psychological treatment and recovered. However, one patient had a severe relapse of AN. Two patients are now married and one has a healthy son. These cases demonstrate that the diagnosis of CAH is compatible with the development of AN and illustrate the importance of providing treatment for CAH patients that encompasses not only medical but also psychological and social care.- - - - - - - - - - ranking = 1keywords = menstruation (Clic here for more details about this article) |
2/6. family of two patients with congenital lipoid adrenal hyperplasia due to StAR mutation.We are reporting the case of two sisters born to nonrelated French Canadian parents. Patient A is of female phenotype with 46,xy, and patient B with 46,xx. The children had severe manifestations of mineralocorticoid deficiency at the age of 11 and 4.5 months, respectively. Residual cortisol secretion seemed present until the age of 3 years for patient A and until 15 months in the case of her sister. Both patients responded to glucocorticoid and Florinef treatment. Patient A did not show any androgen secretion and gonadectomy was performed at the age of 13.4 years; estrogen therapy was started at the age of 14 years resulting in a good breast development and an increase of growth velocity. In patient B, a progressive development of secondary sex characters occurred at 11.6 years of age followed at 14 years by menarche associated with a normal secretion of LH, FSH and estradiol; regular menstruations continued up to her last visit at the age of 25 years. We identified a homozygous L275P mutation on the StAR gene of both patients and a heterozygous L275P mutation on that of their mother and father. In transfection analysis in COS-1 cells, the mutant L275P was well-expressed, but its StAR activity was 87% impaired. The remaining activity of the L275P StAR mutant is consistent with the moderate severity of clinical onset of manifestations.- - - - - - - - - - ranking = 1keywords = menstruation (Clic here for more details about this article) |
3/6. 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.- - - - - - - - - - ranking = 1keywords = menstruation (Clic here for more details about this article) |
4/6. Ovarian steroidogenesis in an adrenalectomized girl with 21-hydroxylase deficiency.A girl with congenital adrenal hyperplasia due to 21-hydroxylase deficiency could not be controlled by conventional treatment, and was adrenalectomized at age 8.5 years (bone age 13.5 years). After surgery, puberty and menarche occurred. On replacement therapy, her progress was uneventful up to the age of 16 years, when menstruations ceased and signs of virilization reappeared. testosterone, androstenedione, and 17-hydroxyprogesterone in plasma, and pregnanetriol in urine were high, but DHEA in plasma, and pregnenetriol and pregnanetriolone in urine were low. Oestrogens in plasma were normal. There was no steroid response to ACTH, and marked, but somewhat slow suppression by dexamethasone. HMG induced a strong rise in oestrone and oestradiol. Ethinyloestradiol reduced not only oestradiol in plasma, but also testosterone, androstenedione, and 17-hydroxyprogesterone. With subsequent dexamethasone treatment, menstruation restarted, and the values returned to normal. It is concluded that virilization may reoccur in patients with 21-hydroxylase deficiency even after adrenalectomy, and that the ovaries in this patient contain some tissue, which has properties of adrenal (suppressibility by dexamethasone) and ovarian tissue (suppressibility by ethinyl oestradiol, preference for delta 4-pathway, low steroid 11-oxygenation) at the same time.- - - - - - - - - - ranking = 2keywords = menstruation (Clic here for more details about this article) |
5/6. A case of 17 alpha-hydroxylase deficiency with retained menstruation.A patient with 17 alpha-hydroxylase deficiency (17OHD) who continued to menstruate is reported. A 24-year-old woman who presented with hypertension, hypokalemia and irregular menses had increased plasma ACTH and mineralocorticoids without any increase in glucocorticoids or sex steroids, and a bilateral adrenal enlargement on abdominal X-ray CT. ACTH stimulation test revealed hyperresponse of the metabolites of the mineralocorticoid pathway and blunted or absent response of those of the glucocorticoid and androgen pathway. Almost all of the abnormalities disappeared after dexamethasone administration. While 17OHD is usually known to accompany hypergonadotropic hypogonadism, the patient continued to menstruate, though irregularly. Although human chorionic gonadotropin administration failed to induce response, basal plasma levels of ovarian steroid (estradiol) and gonadotropins as well as response to LHRH stimulation test were all normal. Thus, the clinical and biochemical features of this case is compatible with the partial deficiency of both adrenals and ovaries, being less severe in the latter. A further analysis especially at molecular level is needed to elucidate the basis for the heterogeneity of this disorder.- - - - - - - - - - ranking = 4keywords = menstruation (Clic here for more details about this article) |
6/6. diagnosis and treatment of 17-hydroxylase deficiency.Leading symptoms of 17-hydroxylase/17,20-lyase deficiency in childhood are hypertension and hypokalemia. We found this enzyme defect in 3 phenotypically female siblings aged 12, 15 and 16 years. Two of the sibs have a 46,XY chromosome pattern, the third is genetically female. Pubertal development did not occur. Both of the 46,XY sibs have male internal and female external genitalia. The 46,XX sister has normal female internal genitalia. At the time of diagnosis, two of the three siblings had hypertension (RR between 190/135 and 160/110 mmHg). Two of the three siblings had low serum potassium and metabolic alkalosis. All three patients had excessively high plasma levels of 11-deoxycorticosterone (DOC) and corticosterone. aldosterone was also elevated whereas plasma renin activity was suppressed. plasma cortisol and its 17-hydroxylated precursors were low, as were plasma testosterone, dihydroepiandrosterone sulphate and estradiol, while the gonadotropins LH and FSH were elevated in all three patients. We studied the steroid profiles of these three patients during long term glucocorticoid treatment with dexamethasone, which is now followed for 13 years. blood pressure and serum potassium became normal. plasma aldosterone, corticosterone and DOC were clearly lower but not fully normalized. The two genetically male sisters obtained estrogens for induction of female secondary sex characteristics. The third 46,XX sister has normal menstruations during substitution with cyclic estrogen/gestagen therapy. All three patients lack pubic and axillary hair, and reached normal adult heights both for phenotypic sex and for target height. The psychosocial orientation is female in all of them. Apart from rare reports of development of malignant hypertension, prognosis is better than in other enzyme deficiencies causing congenital adrenal hyperplasia since no Addisonian crises occur due to DOC and corticosterone overproduction resulting in apparently normal endogenous glucocorticoid activity.- - - - - - - - - - ranking = 1keywords = menstruation (Clic here for more details about this article) |