1/36. Cushing's syndrome caused by nodular adrenal hyperplasia in children with McCune-Albright syndrome.McCune-Albright syndrome consists of fibrous dysplasia of bone, cafe-au-lait skin pigmentation, and endocrine dysfunction (usually precocious puberty). Other endocrine abnormalities occur in a minority of patients, and of these, Cushing's syndrome is the least often recognized. We present 5 children (4 girls) with features of McCune-Albright syndrome who had Cushing's syndrome in the infantile period (<6 months). In 2 children spontaneous resolution occurred, but the remaining 3 required bilateral adrenalectomy. In addition, all 4 girls have experienced precocious puberty, and 3 children demonstrated radiologic evidence of nephrocalcinosis. Understanding of the underlying defect causing McCune-Albright syndrome emphasizes the importance of searching for other endocrine dysfunction in these children.- - - - - - - - - - ranking = 1keywords = hyperplasia (Clic here for more details about this article) |
2/36. Testicular adrenal rests: evidence for luteinizing hormone receptors and for distinct types of testicular nodules differing for their autonomization.We report one patient with 21-hydroxylase deficiency and associated bilateral macro-orchidism caused by nodular hyperplasia of testicular adrenal rests (TAR). The boy, referred to us when 10 years old, was born with bilateral cryptorchidism that was treated unsuccessfully with i.m. injections of human chorionic gonadotropin (hCG) and later on with orchidopexy. He was treated with oral dexamethasone (0.625 mg per day) for the following 13 years. After one year, there was a marked reduction in steroid hormone levels (17-hydroxyprogesterone (17-OH P) from 27.2 to 1.2 nmol/l, testosterone from >104 to 4.8 nmol/l, estradiol (E(2)) from 481 to 33 pmol/l). After the same period of time, both testicular volume and nodularity decreased: from 45 to 18 ml and from numerous to four nodules in the right testis, and from 40 to 13 ml and from numerous to three nodules in the left testis. At the third year, there were transient increases in serum gonadotropins, testicular volume (right testis = 25 ml, left testis = 20 ml) and steroid hormones, including cortisol (serum ACTH and dehydroepiandrosterone sulfate remained suppressed). At the fourth year of follow-up, there were still four nodules in the right testis and three in the left testis. The LH-dependency (which implies possession of LH/hCG receptors) of these nodules was also substantiated by their steroidogenic response to an acute i.m. hCG test. An exogenous ACTH stimulation test increased serum 17-OH P and cortisol. Since these nodules, unlike the majority of those present initially, were not suppressed by the corticosteroid therapy and since they were not detected when the patient returned for control at 23 years of age, they had partial autonomy from ACTH. At 23 years of age, the patient had a single nodule in the right testis (right testis volume = 13 ml, left testis volume = 10 ml), which should have accounted for the consistent difference in size between the two gonads. serum LH was about 7 mU/l and FSH about 23 mU/l. The responsiveness of plasma steroid hormones to hCG had changed quantitatively and qualitatively. Secretion of cortisol was absent, secretion of 17-OH P and testosterone was reduced, and secretion of E(2) was much increased. The ACTH stimulation test showed that serum cortisol did not respond, while the other steroids responded in the order of 17-OH P>E(2)> testosterone. We conclude that there were three different groups of TAR when the patient was already 10 years old: (i) ACTH-sensitive (the majority), (ii) partially ACTH-insensitive but LH/hCG-sensitive (three nodules in the left testis and three in the right testis), (iii) almost entirely ACTH-insensitive and partially hCG-insensitive (a single nodule in the right testis). Probably, the never suppressed gonadotropin levels (presumably due to the bilateral testicular damage subsequent to the cryptorchid state) and the hCG therapy were major etiological factors for the appearance of the second and third population of TAR.- - - - - - - - - - ranking = 0.25keywords = hyperplasia (Clic here for more details about this article) |
3/36. Congenital adrenal hyperplasia due to 11-hydroxylase enzyme deficiency in three siblings. A brief report.To appraise clinicians of the presence of an uncommon cause of congenital adrenal hyperplasia in a Nigerian family, we present case reports of three siblings comprising two males (aged 4 years 10 months and 3 years 10 months) and a female (aged 16 months). The male patients presented with features of precocious pseudopuberty and had body weights and heights that were above the 95th percentiles on a standard growth chart. There was radiologic evidence for an advanced bone age of over 11 years in both patients, together with findings of sustained systemic hypertension. The female patient was discovered to have an abnormal hormonal profile during a screening of the unaffected children of their non-cosanguinous monogamous parents. The three siblings had morning plasma cortisol concentrations in the lower range of reference values together with markedly elevated levels of plasma androgens. These biochemical abnormalities together with the clinical features of precocious pseudopuberty in the two male patients led to the clinical suspicion of congenital adrenal hyperplasia (CAH). The enzymatic defect was believed to be due to 11-hydroxylase enzyme, because of the presence of sustained systemic hypertension in the male subjects. As routine family screening was instrumental in the discovery of the subclinical CAH in the female subject, it is thus suggested that clinicians should endeavour to undertake a detailed hormonal screening of family members of patients.- - - - - - - - - - ranking = 1.5keywords = hyperplasia (Clic here for more details about this article) |
4/36. Focal lobular spermatogenesis and pubertal acceleration associated with ipsilateral Leydig cell hyperplasia.Leydig cell tumors of the testis are the underlying cause in about 10% of the cases of precocious puberty in boys. Leydig cell hyperplasia is a less well-characterized cause, with an undocumented frequency. We describe a boy with precocious puberty associated with ipsilateral testicular enlargement and focal Leydig cell hyperplasia with spermatogenesis limited to the local adjacent testicular tissue.- - - - - - - - - - ranking = 1.5keywords = hyperplasia (Clic here for more details about this article) |
5/36. Large bilateral adrenal incidentalomas complicating untreated 11B hydroxylase deficiency in the third decade of life. A case report.The occurrence of bilateral giant adrenal incidentalomas is reported in a 22-year-old man who was evaluated for urinary tract infection. The right gland measured 16 cm, the left one 6 cm at computed tomography. Height was 145 cm, blood pressure 190/100 mm Hg. Testes were not palpable. Laboratory investigations revealed elevated levels of 17 hydroxyprogesterone:>50 ng/ml (n<1,1); 11 desoxycortisol: 919 nmol/l (n<30); testosterone: 19 ng/ml (n<0.7) and ACTH: 1 402 ng/l (n<48). karyotype was 46 XX. The patient was a female pseudohermaphrodite with congenital adrenal 11 B hydroxylase deficiency. Adrenal masses responded to glucocorticoid therapy with marked reduction of their size after six months. We confirm previous recommendations that patients with adrenal incidentaloma should be checked for congenital adrenal hyperplasia.- - - - - - - - - - ranking = 0.25keywords = hyperplasia (Clic here for more details about this article) |
6/36. Genetic and endocrinological evaluations of three 46,XX patients with congenital lipoid adrenal hyperplasia previously reported as having presented spontaneous puberty.Congenital lipoid adrenal hyperplasia (CLAH) is an autosomal recessive disorder characterized by impaired synthesis of adrenal and gonadal steroids. It was demonstrated that loss-of-function mutations in the steroidogenic acute regulatory protein (StAR) gene cause CLAH and that 46,XX patients with CLAH develop spontaneous puberty. We had reported that three 46,XX patients with CLAH had presented spontaneous puberty and one of the patients had developed life-threatening ovarian cysts, before the etiology of CLAH had been clarified. In the present study, we analyzed their StAR gene and demonstrated mutations. Endocrinological examinations of the patients revealed that serum LH and FSH levels and their responses to the LHRH stimulation were not exaggerated before the onset of puberty. serum LH levels and its response to LHRH were increased during puberty, whereas serum FSH levels remained within the normal range. serum estradiol increased after the administration of human menopausal gonadotropins in the pubertal patient, suggesting that the ovary might have another system than StAR to facilitate cholesterol transport into the mitochondria. Although the patients had menstrual cycles, they remained anovulatory, and the resultant increased secretion of LH was speculated to be responsible for the development of ovarian cysts.- - - - - - - - - - ranking = 1.25keywords = hyperplasia (Clic here for more details about this article) |
7/36. Deletion of the long arm of the y chromosome in an adolescent with short stature and hypogonadism.We describe a patient with short stature more than that expected for non-treated congenital adrenal hyperplasia due to nonclassic 21-hydroxylase deficiency with deletions in the long arm of the y chromosome including the CGY gene and the AZF subregions.- - - - - - - - - - ranking = 0.25keywords = hyperplasia (Clic here for more details about this article) |
8/36. Adrenal tumor presenting as precocious puberty.We present a case report of a two and a half-year-old boy who presented with precocious puberty. A clinical diagnosis of congenital adrenal hyperplasia was made. Patient was investigated and found to have an adrenocortical tumor. The tumor was about 7 cms in diameter. The tumor was secreting androgens, 17OHP and cortisol. This is an unusual array of hormones to be secreted by an adrenal tumor.- - - - - - - - - - ranking = 0.25keywords = hyperplasia (Clic here for more details about this article) |
9/36. Nodular Leydig cell hyperplasia in a boy with familial male-limited precocious puberty.In boys with familial male-limited precocious puberty, an activating mutation of the luteinizing hormone receptor causes Leydig cell hyperplasia, resulting in excess testosterone production. There are no reports of Leydig cell masses in boys with familial male-limited precocious puberty. We describe a 10-year-old boy with familial male-limited precocious puberty who developed Leydig cell nodules.- - - - - - - - - - ranking = 1.25keywords = hyperplasia (Clic here for more details about this article) |
10/36. Deletion hybrid genes, due to unequal crossing over between CYP11B1 (11beta-hydroxylase) and CYP11B2(aldosterone synthase) cause steroid 11beta-hydroxylase deficiency and congenital adrenal hyperplasia.Chromosomal rearrangements are natural experiments that can provide unique insights into in vivo regulation of genes and physiological systems. We have studied a patient with congenital adrenal hyperplasia and steroid 11beta-hydroxylase deficiency who was homozygous for a deletion of the CYP11B1 and CYP11B2 genes normally required for cortisol and aldosterone synthesis, respectively. The genes were deleted by unequal recombination between the tandemly arranged CYP11B genes during a previous meiosis, leaving a single hybrid gene consisting of the promoter and exons 1-6 of CYP11B2 and exons 7-9 of CYP11B1. The hybrid gene also carried an I339T mutation formed by intracodon recombination at the chromosomal breakpoint. The mutant complementary dna corresponding to this gene was expressed in COS-1 cells and was found to have relatively unimpaired 11beta-hydroxylase and aldosterone synthase activities. Apparently the 11beta-hydroxylase deficiency and the adrenal hyperplasia are due to the lack of expression of this gene in the adrenal zona fasciculata/reticularis resulting from replacement of the CYP11B1 promoter and regulatory sequences by those of CYP11B2.- - - - - - - - - - ranking = 1.5keywords = hyperplasia (Clic here for more details about this article) |
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