Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0001430 (adenoma)
 21,222 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Described herein are two brothers with 21-hydroxylase deficiency (21-OHD) associated with adrenal tumors, and these possible mechanisms are discussed. A 34-year-old male was admitted on Jan. 9, 1984 because of an enlarged and tender left breast. Physical examination revealed short stature (152 cm, 76.5 kg), gynecomastia and shortening of metacarpal bone. His testes were small (2.6 X 1.6 X 1.9 cm). Urinary excretion of 17-OHCS was within normal range (5.9 mg/day), but those of 17-KS, 17-KGS and pregnanetriol were markedly increased (44.4, 110 and 22.6 mg/day, respectively). Plasma concentrations of progesterone and ACTH and urinary excretions of estrone, estradiol and estriol were also increased. Urinary excretions of 17-KS were decreased to 11.7 mg/day and 17-KGS to 22.3 mg/day after the ingestion of 2 mg/day dexamethasone for two days. The computed tomography and a scintigraphy with 131I-Adosterol revealed a tumor in the left adrenal gland, and the adrenal arteriography revealed a neovascularity and a tumor stain in the tumor. These data indicated that the patient was suffering from both 21-OHD and the left adrenal tumor. At this point, adenoma or adenocarcinoma of the adrenal gland was suspected. The left adrenal tumor (85 g) was resected on April 10, 1984, and the pathological diagnosis was adrenal adenoma. The patient's endocrinological abnormalities, however, did not improve after the operation. Urinary excretions of 17-KS and KGS were increased to 57.9 and 108.5 mg/day, respectively, in the patient's elder brother, and 63.3 and 127.9 mg/day, respectively, in his younger brother, indicating that they also had 21-OHD. Interestingly, an adrenal tumor was diagnosed by abdominal computed tomography in the elder brother who had the same HLA typing as the present case. The three brothers had 21-OHD, and two of them had both 21-OHD and adrenal tumor. To our knowledge, this is the first report documenting the co-existence of adrenal tumors in brothers with 21-OHD. This suggests that adenoma can be one of the complications of 21-OHD, probably due to the chronic stimulation by ACTH, and that a possible linkage to HLA may exist in such cases.
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PMID:[21-hydroxylase deficiency associated with adrenal tumor: case report of two brothers]. 278 51

The authors report a new case of parathyroid adenoma associated with hypophosphatemic vitamin D resistant osteomalacia. These troubles were simultaneously found. Major and isolated phosphate tubular loss was improved neither by parathyroidectomy nor vitamin D or 25 OHD therapy. On the contrary 25 OHD associated with oral phosphate intake was clinically, radiologically and histologically efficient. The actual pathogenic concepts about this affection are reviewed.
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PMID:[Hypophosphatemic vitamin D resistant osteomalacia with parathyroid adenoma (author's transl)]. 624 54

Since the demonstration that vitamin D status might influence the clinical and biological expression of primary hyperparathyroidism (PHPT), a serum 25-hydroxy vitamin D (25-OHD) concentration of 50 nmol/l has been considered by an expert panel as the minimum level to be maintained in asymptomatic PHPT patients. Two yr after this recommendation, we aimed to evaluate the frequency of serum 25-OHD concentrations below this threshold in PHPT patients. In the present study, serum 25-OHD, second- and third-generation PTH, calcium, phosphate, magnesium, albumin and creatinine were measured in 72 out 145 consecutive PHPT patients operated on in our Endocrine Surgery Department, in whom blood samples were available before as well as two days after surgical intervention. Before surgery, the frequency of serum 25-OHD levels <50 nmol/l ranged from 91.5 to 100% whatever the classification used to identify patients: whole group, symptomatic vs asymptomatic, patients with calcium levels >3 vs <3 mmol/l. 25-OHD concentrations correlated negatively with the weight of adenoma, PTH levels, and total calcium concentrations measured before surgery. Pre-operative PTH levels, whatever the assay used, and total calcium concentrations were positively and significantly correlated. Two days post-surgery, 13 patients were moderately hypocalcemic. Neither pre-surgery 25-OHD nor PTH, calcium or phosphorus level or adenoma weight were predictive of post-operative hypocalcemia. The dramatic frequency of low 25-OHD concentrations in our PHPT patients demonstrates that the above-mentioned recommendation is far from being applied in France despite evidence of worsening expression of PHPT with decreasing 25-OHD serum levels.
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PMID:A very high incidence of low 25 hydroxy-vitamin D serum concentration in a French population of patients with primary hyperparathyroidism. 1684 Aug 28

CYP24A1 gene mutations induce infantile hypercalcemia, with high 1,25(OH)2D contrasting with low PTH levels. The adult phenotype is not well known. Two unrelated adult patients were referred for nephrolithiasis, hypertension, hypercalcemia, hypercalciuria, normal 25-OHD levels, and inappropriate PTH levels (22 to 92pg/mL;N: 15-68) suggesting primary hyperparathyroidism, leading to surgery. Hypercalciuria improved despite persistent hypercalcemia, treated with cinacalcet. The ratio 25-OHD3/24-25-(OH)2D3>100 (N<25) suggested the diagnosis of CYP24A1 mutations which were confirmed through Sanger sequencing. In conclusion, the adult phenotype associated with CYP24A1 mutations can evolve over time from hypercalcemia with suppressed PTH towards hyperparathyroidism with moderately increased PTH level, adenoma and/or slightly increased parathyroid glands. Surgery decreased calciuria and improved kidney function. Cinacalcet was partially effective on hypercalcemia since PTH was inappropriate. This novel phenotype, a phenocopy of hyperparathyroidism, might evolve in few cases towards hyperparathyroidism despite random association of the 2 diseases cannot be excluded.
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PMID:Hyperparathyroidism complicating CYP 24A1 mutations. 2737 51