dihydrotachysterol and Pseudohypoparathyroidism

Topics: Adenoma; Child; Dihydrotachysterol; Female; Humans; Hypercalcemia; Hyperparathyroidism; Hypoparathyroidism; Infant, Newborn; Infant, Newborn, Diseases; Parathyroid Diseases; Parathyroid Neoplasms; Pregnancy; Pseudohypoparathyroidism; Vitamin D

A 1.5-year-old ferret examined because of seizures was found to have low serum calcium, high serum phosphorus, and extremely high serum parathyroid hormone concentrations. Common causes of these abnormalities, including nutritional secondary hyperparathyroidism, chronic renal secondary hyperparathyroidism, tumor lysis syndrome, and hypomagnesemia, were ruled out, and a tentative diagnosis of pseudohypoparathyroidism was made. Pseudohypoparathyroidism is a hereditary condition in people that, to our knowledge, has not been identified in ferrets previously and is caused by a lack of response to high serum parathyroid hormone concentrations, rather than a deficiency of this hormone. The ferret improved after treatment with dihydrotachysterol (a vitamin D analog) and calcium carbonate. It was still doing well after 3.5 years of continued treatment.

Topics: Animals; Calcium; Calcium Carbonate; Diagnosis, Differential; Dihydrotachysterol; Ferrets; Male; Parathyroid Hormone; Phosphorus; Pseudohypoparathyroidism; Seizures; Thyroid Gland; Treatment Outcome

Topics: Calcifediol; Calcitriol; Calcium; Dihydrotachysterol; Ergocalciferols; Genetic Counseling; Humans; Pseudohypoparathyroidism; Vitamin D

Moderate dietary Na restriction (80 mmol/d for 7 days) during constant Ca intake can reduce high urinary Ca excretion to normal levels in idiopathic hypercalciuria (IH). A similar protocol was used to test its effect in primary hyperparathyroidism (PHPT) and also in hypoparathyroid subjects (HOPT) during treatment with dihydrotachysterol (DHT). Nine subjects with PHPT, 10 with HOPT, and one with pseudo-HOPT were evaluated after Na-restricted (80 mmol/d) and Na-supplemented (200 mmol/d) diets for 7 days each with dietary Ca constant. Na restriction resulted in a decrease in mean urinary 24-hour Ca excretion in PHPT subjects (10.6 v 7.6 mmol/d [424 v 304 mg], P less than 0.0001) and in one pseudo-HOPT subject, similar to the pattern seen previously in IH subjects. In contrast, Na restriction was not accompanied by significant change in Ca excretion in HOPT. There was no change in serum immunoreactive PTH (iPTH) or 1,25(OH)2 vitamin D levels in either group when Na intake was altered. Thus, the presence of parathyroid hormone (PTH) is necessary for sodium-related alterations in urinary Ca to occur. The effect of PTH appears to be "permissive" rather than "active." Dietary Na restriction may have a role in the management of hypercalciuria in mild PHPT cases when parathyroidectomy is contraindicated.

Topics: Calcitriol; Calcium; Diet, Sodium-Restricted; Dihydrotachysterol; Female; Humans; Hyperparathyroidism; Hypoparathyroidism; Male; Parathyroid Diseases; Parathyroid Hormone; Pseudohypoparathyroidism

A patient with longstanding pseudohypoparathyroidism undergoing substitution with dihydrotachysterin, with normal to low serum calcium and phosphorus levels, developed extensive calcification of the subcutaneous tissue and an obliterative and calcified arteriopathy of the small subcutaneous arteries with ischemic skin signs (livedo reticularis, skin infarction and ulcerative necrosis). After stimulation with exogenous parathyroid hormone there was no increase in urinary cyclic AMP and the G-unit was significantly decreased. It was concluded that the patient is suffering from pseudohypoparathyroidism type 1a. The likely pathophysiological mechanisms and the therapeutic implications are discussed.

Topics: Arteries; Calcinosis; Calcium; Cyclic AMP; Dihydrotachysterol; Female; Humans; Middle Aged; Necrosis; Pseudohypoparathyroidism; Skin; Vascular Diseases

Topics: 17-Hydroxycorticosteroids; Acne Vulgaris; Adrenal Gland Neoplasms; Adult; Androgens; Dihydrotachysterol; Dwarfism, Pituitary; Female; Glucocorticoids; Gonadotropins; Growth Hormone; Hirsutism; Humans; Hydrocortisone; Male; Mitotane; Obesity; Paraneoplastic Endocrine Syndromes; Pseudohypoparathyroidism

Fourteen patients with pseudohypoparathyroidism, 17 with idiopathic hypoparathyroidism, and 12 with postoperative hypoparathyroidism were treated with vitamin D2, dihydrotachysterol, 1 alpha-hydroxyvitamin D3)1 alpha-OHD3), and 1,25-dihydroxyvitamin D3 for 6-18 months. The optimal maintenance dose or minimum daily dose of 1,25-dihydroxyvitamin D3 to maintain serum calcium at approximately 8.5 mg/100 ml and control all the clinical symptoms was 1.3 +/- 0.16 micrograms/day (mean +/- SE) in pseudohypoparathyroidism, 1.5 +/- 0.18 micrograms/day in idiopathic hypoparathyroidism, and 1.9 +/- 0.50 micrograms/day in postoperative hypoparathyroidism. There was no significant difference in the optimal maintenance dose among the 3 groups. The optimal maintenance dose of 1 alpha-OHD3, however, was 2.0 +/- 0.12 micrograms/day in pseudohypoparathyroidism, significantly lower than that in idiopathic hypoparathyroidism (3.5 +/-0.29 micrograms/day; P less than 0.001) and in postoperative hypoparathyroidism (4.89 +/- 0.54 micrograms/day; P less than 0.001). Significantly lower doses were required in the treatment of idiopathic hypoparathyroidism than in postoperative hypoparathyroidism (P less than 0.05). No significant difference was found in the optimal maintenance dose of dihydrotachysterol and vitamin D2 among the 3 groups. The average pretreatment serum calcium levels and clinical manifestations were indistinguishable among the 3 groups of patients. This suggests that such a difference in the optimal maintenance dose of 1 alpha-OHD3 is ascribed not to the difference in the severity of hypoparathyroidism, but most probably to differences in the pathophysiological processes in pseudohypoparathyroidism and idiopathic or postoperative hypoparathyroidism. The excess parathyroid hormone levels in blood of patients with pseudohypoparathyroidism (and not in other types of hypoparathyroidism) may explain such a difference.

Topics: Adolescent; Adult; Aged; Body Weight; Calcifediol; Calcitriol; Calcium; Dihydrotachysterol; Ergocalciferols; Female; Humans; Hydroxycholecalciferols; Hypoparathyroidism; Male; Middle Aged; Parathyroid Hormone; Phosphorus; Postoperative Complications; Pseudohypoparathyroidism; Vitamin D

Two cases of hypoparathyroidism are described which illustrate part of the spectrum of hormonoplethoric hypoparathyroidism. The first is a case of pseudohypoparathyroidism without the usual associated physical stigmata, and the second a case of hypohyperparathyroidism. The diagnostic importance of hypocalcaemia is emphasized, particularly in the presence of unexplained convulsions. Related hypoparathyroid conditions are discussed.

Topics: Child; Dihydrotachysterol; Female; Humans; Hypoparathyroidism; Pseudohypoparathyroidism

The response of serum 1,25-dihydroxycholecalciferol (1,25-OH2CC) concentration to the administration of parathyroid extract (PTE) was studied in a patient with pseudohypoparathyroidism (PHP) type 1, 3 days after withdrawal of dihydrotachysterol (DHT) treatment. The patient had had a normal serum calcium (Ca), phosphorus (P) and immunoreactive parathyroid hormone (iPTH) level on DHT for 6 years. After PTE administration no rise of the 1,25-OH2CC concentration and no response of urinary cAMP and P were seen.

Topics: Adult; Calcitriol; Cyclic AMP; Dihydrotachysterol; Dihydroxycholecalciferols; Female; Humans; Hydroxycholecalciferols; Hypoparathyroidism; Parathyroid Hormone; Phosphorus; Pseudohypoparathyroidism

Topics: Adolescent; Adult; Dihydrotachysterol; Ergocalciferols; Female; Humans; Hydroxycholecalciferols; Hypoparathyroidism; Male; Middle Aged; Pseudohypoparathyroidism

Topics: Adult; Child; Dihydrotachysterol; Dihydroxycholecalciferols; Ergocalciferols; Humans; Male; Pseudohypoparathyroidism; Vitamin D

Topics: Adolescent; Dihydrotachysterol; Humans; Male; Pseudohypoparathyroidism

Topics: Adolescent; Anticonvulsants; Dihydrotachysterol; Electroencephalography; Humans; Hypocalcemia; Male; Pseudohypoparathyroidism

Topics: Adolescent; Calcitonin; Calcium; Cyclic AMP; Dihydrotachysterol; Female; Humans; Hydroxyproline; Ilium; Intestinal Absorption; Ossification, Heterotopic; Parathyroid Glands; Parathyroid Hormone; Phosphates; Pseudohypoparathyroidism; Tissue Extracts

Topics: Adult; Calcium; Calcium Metabolism Disorders; Cataract; Dihydrotachysterol; Edetic Acid; Eye Manifestations; Female; Humans; Hypoparathyroidism; Parathyroid Hormone; Phosphorus Metabolism Disorders; Pseudohypoparathyroidism; Pseudopseudohypoparathyroidism; Water-Electrolyte Balance

Topics: Adolescent; Dihydrotachysterol; Ergocalciferols; Female; Humans; Hypocalcemia; Hypoparathyroidism; Hypophosphatemia, Familial; Infant; Male; Protein-Losing Enteropathies; Pseudohypoparathyroidism

Topics: Abnormalities, Multiple; Adult; Alopecia; Anemia, Hypochromic; Body Height; Calcium; Dihydrotachysterol; Humans; Intellectual Disability; Male; Phosphorus; Pseudohypoparathyroidism

Topics: Calcium; Child, Preschool; Dihydrotachysterol; Female; Humans; Pseudohypoparathyroidism

Topics: Alkalosis; Calcium; Celiac Disease; Dihydrotachysterol; Humans; Hypocalcemia; Hypoparathyroidism; Infant; Infant, Newborn; Laryngismus; Magnesium Deficiency; Pseudohypoparathyroidism; Pseudopseudohypoparathyroidism; Seizures; Tetany; Vitamin D

Topics: Dihydrotachysterol; Humans; Probenecid; Pseudohypoparathyroidism; Vitamin D

Topics: Age Factors; Child; Child, Preschool; Dihydrotachysterol; Humans; Probenecid; Pseudohypoparathyroidism; Vitamin D

Topics: Calcium; Calcium, Dietary; Dihydrotachysterol; Humans; Male; Mental Processes; Middle Aged; Parathyroid Hormone; Phosphorus; Pseudohypoparathyroidism; Psychological Tests

Topics: Calcium; Diet Therapy; Dihydrotachysterol; Humans; Intelligence Tests; Male; Memory; Mental Processes; Middle Aged; Motor Skills; Pseudohypoparathyroidism; Psychological Tests

Topics: Adolescent; Dihydrotachysterol; Female; Humans; Hyperparathyroidism; Parathyroid Diseases; Pseudohypoparathyroidism; Radiography; Vitamin D

Topics: Adolescent; Calcinosis; Calcium; Diagnosis, Differential; Dihydrotachysterol; Epilepsy; Humans; Hyperparathyroidism; Iodine Radioisotopes; Knee; Male; Parathyroid Hormone; Phosphorus; Phosphorus Isotopes; Pseudohypoparathyroidism; Radiography

Topics: Calcium; Child; Diagnosis, Differential; Dihydrotachysterol; Ergocalciferols; Exostoses; Humans; Hyperparathyroidism; Myositis Ossificans; Osteitis Fibrosa Cystica; Parathyroid Glands; Pathology; Pseudohypoparathyroidism; Pseudopseudohypoparathyroidism; Turner Syndrome

Topics: Dihydrotachysterol; Disease; Humans; Hypoparathyroidism; Parathyroid Diseases; Parathyroid Glands; Pseudohypoparathyroidism; Vitamin D; Vitamins