1/51. A microdeletion within DAX-1 in X-linked adrenal hypoplasia congenita and hypogonadotrophic hypogonadism.BACKGROUND: X-linked adrenal hypoplasia congenita (AHC) is a developmental disorder characterized by primary adrenal gland failure, which produces extreme and potentially fatal endocrine deficiencies. Hypogonadotrophic hypogonadism (HHG) also may be associated with AHC. AHC has been shown to result from a variety of mutations in the DAX-1 gene, which encodes a member of the nuclear hormone receptor superfamily. methods: The proband, one of the world's oldest living patients with AHC and HHG, was diagnosed in 1955. He was on corticosteroid replacement therapy since that time and androgen replacement therapy since puberty. We sequenced his DAX-1 gene. RESULTS: We found a 4 bp ACTC deletion between nucleotides 1464 and 1467 in the second exon of the normal DAX-1 sequence. This mutation caused a shift in the reading frame and predicted a premature stop codon at amino acid position 416. The mutation abolished a recognition site for DdeI, allowing for confirmation by restriction analysis. CONCLUSIONS: The position of the mutation confirms the functional importance of the COOH-terminal 10% of the DAX-1 sequence. The clinical history also reinforces the importance of early diagnosis in AHC, which can be associated with longevity and no obvious morbidity after more than 40 years of hormone replacement therapy.- - - - - - - - - - ranking = 1keywords = gland (Clic here for more details about this article) |
2/51. Induction of endometrial cycles and ovulation in a woman with combined 17alpha-hydroxylase/17,20-lyase deficiency due to compound heterozygous mutations on the p45017alpha gene.OBJECTIVE: To describe the case of a Japanese woman with combined 17alpha-hydroxylase/17,20-lyase deficiency (congenital adrenal hyperplasia type V) and to discuss possible therapeutic procedures in such patients. DESIGN: Case report. SETTING: University hospital. PATIENT(s): A 26-year-old woman with secondary amenorrhea and primary sterility. INTERVENTION(s): Nucleotide sequencing of the P45017alpha gene (CYP17), induction of endometrial maturation with steroid hormone replacement, and ovulation induction with gonadotropin. MAIN OUTCOME MEASURE(s): Nucleotide sequence of CYP17, endometrial thickness and follicle diameter measured by transvaginal ultrasonography, and histologic evaluation of the endometrium. RESULT(s): Two different mutations were detected on CYP17: One was a deletion of the phenylalanine codon (TTC) at either amino acid 53 or 54 in exon 1, and the other was a missense mutation with the substitution of histidine (CAC) by leucine (CTC) at position 373 in exon 6. Repeated histologic evaluations performed during treatment with P consistently revealed an unripe endometrium with glands of the early secretory phase and markedly scanty stroma. Ultrasound examination revealed follicular growth and ovulation after gonadotropin administration, but insufficient thickness of the endometrium. CONCLUSION(s): ovulation induction was possible in this patient with 17alpha-hydroxylase/17,20-lyase deficiency, but the endometrial response to steroid hormone replacement was extremely poor.- - - - - - - - - - ranking = 1keywords = gland (Clic here for more details about this article) |
3/51. Bilateral laparoscopic adrenalectomy: a new treatment for difficult cases of congenital adrenal hyperplasia.PURPOSE: In difficult cases of congenital adrenal hyperplasia (CAH), often the child may have normal cortisol levels and elevated androgen levels, or normal androgen levels and elevated cortisol levels, but not normal levels of both. Because bilateral adrenalectomy removes the source of the abnormal androgen production, the authors felt that in some cases it might be more efficacious than conventional medical therapy. methods:Three children with CAH and suboptimal response to medical management underwent bilateral laparoscopic adrenalectomy. parents were counseled extensively regarding the experimental nature of this treatment and the potential long-term complications. RESULTS: All children recovered quickly after a mean hospital stay of 1.8 days. Pathologic examination of the removed adrenal glands showed persistent cortical hyperplasia. Follow-up at 6 months indicated marked reduction in abnormal androgen production, which allowed lowering of the steroid dosing to physiologic levels. CONCLUSION: In children with CAH refractory to medical management, bilateral laparoscopic adrenalectomy can be performed safely with almost trivial morbidity. Although early results are very encouraging, the anticipated long-term beneficial effects on growth, short stature, and adult infertility will require years to assess.- - - - - - - - - - ranking = 1keywords = gland (Clic here for more details about this article) |
4/51. 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 = 1keywords = gland (Clic here for more details about this article) |
5/51. CT findings in congenital adrenal hyperplasia due to 11 beta hydroxylase deficiency at puberty age.The CT findings of a case of congenital adrenal hyperplasia due to 11 beta hydroxylase deficiency at the age of 17 is presented. CT showed marked bilateral symmetric adrenal enlargement with smooth borders. In upper parts of the enlarged adrenals the contours were preserved, but the lower parts of the adrenals appeared ball-like. The adrenals were homogeneous in density before contrast, after administration of iodinated contrast agent the glands were markedly enhanced with obvious vasculature observed. These CT findings were pathognomonic of congenital adrenal hyperplasia, though not specific for the type of 11 beta hydroxylase deficiency.- - - - - - - - - - ranking = 1keywords = gland (Clic here for more details about this article) |
6/51. Pigmented adrenal hyperplasia with myelolipomatous changes and bilateral testicular enlargement in an untreated man with 21-hydroxylase deficiency.OBJECTIVE: To report the occurrence of a giant left adrenal tumor and bilateral testicular masses (adenomatous hyperplasia of leydig cells) in a young man with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. methods: The clinical, radiologic, endocrinologic, and pathologic features of this case are correlated with the findings in the literature. RESULTS: The interesting elements in this case are the rare pathologic features of the left adrenal lesion (pigmented adrenal hyperplasia with myelolipomatous changes) and the association with the infrequent testicular adrenal rest tumors. The absence of enlargement of the right adrenal gland was unexplained. CONCLUSION: The presence of these two rare complications seemed to be associated with poor adherence to medical treatment recommendations for congenital adrenal hyperplasia.- - - - - - - - - - ranking = 1keywords = gland (Clic here for more details about this article) |
7/51. New compound heterozygous mutation in the CYP17 gene in a 46,XY girl with 17 alpha-hydroxylase/17,20-lyase deficiency.BACKGROUND: 17alpha-Hydroxylase/17,20-lyase deficiency is caused by a defect of P450c17 which catalyzes both 17alpha-hydroxylase and 17,20-lyase reactions in adrenal glands and gonads. RESULTS: In the present study, we analyzed the CYP17 gene in a Japanese patient with 17alpha-hydroxylase/17,20-lyase deficiency. The patient was a phenotypic girl and referred to us for right-sided inguinal hernia at the age of 4 years. biopsy of the herniated gonad showed testicular tissue. The karyotype was 46,XY. At 6 years of age, hypertension was clearly recognized and the patient was diagnosed as having 17alpha-hydroxylase/17,20-lyase deficiency based on the clinical and laboratory findings. Analysis of the CYP17 gene revealed a compound heterozygous mutation. One mutation was an undescribed single nucleotide deletion at codon 247 in exon 4 (CTT to CT: 247delT) and the other was a missense mutation resulting in a substitution of His to Leu at codon 373 in exon 6 (CAC to CTC: H373L), which has been previously shown to abolish both 17alpha-hydroxylase and 17,20-lyase activities. The functional expression study of the 247delT mutant showed that this 247delT mutation completely eliminates both 17alpha-hydroxylase and 17,20-lyase activities. CONCLUSIONS: Together, these results indicate that the patient is a compound heterozygote for the mutation of the CYP17 gene (247delT and H373L) and that these mutations inactivate both 17alpha-hydroxylase and 17,20-lyase activities and give rise to clinically manifest 17alpha-hydroxylase/17,20-lyase deficiency.- - - - - - - - - - ranking = 1keywords = gland (Clic here for more details about this article) |
8/51. An unusual case of multiple giant myelolipomas: clinical and pathogenetic implications.Myelolipomas are benign tumors composed of both mature adipose and myeloid tissues. They typically present as an incidental mass in one of the adrenal glands proper. However, they can occur in ectopic adrenal tissue or, rarely, without associated adrenal tissue in various locations and can grow to weights of several kilograms. These tumors have been linked to endocrinopathies, such as Cushing disease and congenital adrenal hyperplasia, which involve overproduction of adrenocorticotropic hormone. We report a case of three giant adrenal myelolipomas arising in a persistently virilized female with congenital adrenal hyperplasia, supporting a role for hormonal stimuli in myelolipoma formation.- - - - - - - - - - ranking = 1keywords = gland (Clic here for more details about this article) |
9/51. A case of ACTH-independent macronodular adrenal hyperplasia: simultaneous expression of several aberrant hormone receptors in the adrenal gland.ACTH-independent macronodular adrenal hyperplasia (AIMAH) is a rare cause of Cushing's syndrome. Recently, aberrant expression of adrenal receptors for various hormones and/or cytokines has been identified in several cases with AIMAH, which may act as a pathogenetic factor for the disorder. We report here an AIMAH patient with a Rathke's cleft cyst. Endocrinological examinations revealed that the pituitary cyst had no hormonal secretion. Administrations of either AVP or isoproterenol provoked cortisol production in the patient, whereas DDAVP, mosapride or endogenous LH induced by GnRH did not. Reverse transcriptional-PCR analysis of total rna obtained from the patient's adrenal tissue revealed the expression of mRNA of receptors for V1a, V1b, V2, and LH/hCG. Three of these receptors except for V1a receptor were not expressed in normal adrenal tissue. Hyperosmolar saline infusion promoted the patient's cortisol secretion through the increase in endogenous AVP (peak plasma AVP level reached 90.4 pg/ml during the test). These results suggest that endogenous AVP and catecholamines are involved in the pathophysiology of the patient. Further study will be necessary to clarify the molecular mechanisms that regulate tissue-specific expression of these receptors and their role in the overgrowth of adrenal in AIMAH.- - - - - - - - - - ranking = 4keywords = gland (Clic here for more details about this article) |
10/51. Adrenal myelolipoma associated with congenital adrenal 21-hydroxylase deficiency.The occurrence of adrenal myelolipomas is reported in an untreated patient with congenital adrenal 21-hydroxylase deficiency. laparotomy demonstrated the presence of two lesions, a large tumor which arose from an ectopic adrenal cortex and a smaller tumor in the left adrenal gland. Six cases of adrenal myelolipomas and congenital adrenal hyperplasia have been reported in the literature. All patients were associated with excessive ACTH secretion for a long period of time. The relative frequency of this association, coupled with the observation by Selye and Stone (Am J Pathol 26:211, 1950) that anterior pituitary extracts cause myelolipomatous changes in rats, may indicate a possible role for ACTH in the development of myelolipomas.- - - - - - - - - - ranking = 1keywords = gland (Clic here for more details about this article) |
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