1/6. pseudohypoparathyroidism: a difficult diagnosis in early childhood.We have studied one adult and three children with pseudohypoparathyroidism and observed that the physical character of short metacarpal bones is not evident in the first 4-5 years of life, that hypocalcaemia and hyperphosphataemia may be absent in the first years of life, but that the renal unresponsiveness to parathyroid hormone can still be demonstrated. Our data confirm earlier observation that in evaluating the renal responsiveness to parathyroid hormone, urinary cyclic amp is a better parameter than urinary phosphorus. Thus in early childhood, it may be difficult to differentiate between a normal child, a child with pseudohypoparathyroidism and a child with pseudo-pseudohypoparathyroidism unless the renal parathyroid hormone responsiveness is studied.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
2/6. Hypomagnesemia masking the appearance of elevated parathyroid hormone concentrations in familial pseudohypoparathyroidism.A 21-yr-old postpartum woman was found to be hypocalcemic and hypomagnesemic with a normal serum immunoreactive parathormone level (hypomagnesemic hypoparathyroidism). She was treated with calcitriol, calcium and magnesium. Two yr later the patient's son presented with tetany, hypocalcemia and the physical changes of pseudohypoparathyroidism. Subsequently, the patient's niece and nephew were also diagnosed with pseudohypoparathyroidism (low serum calcium, high serum phosphorus, high circulating immunoreactive parathormone). Re-evaluation of the patient on the above medical therapy showed a normal serum calcium, phosphorus and magnesium levels and an abnormally high serum immunoreactive parathormone level. The patient's magnesium supplementation was discontinued. No change in serum calcium, magnesium or parathormone levels resulted. We think that this patient demonstrates that hypomagnesemia can mask the laboratory presentation of pseudohypoparathyroidism by suppressing secretion of parathormone and further demonstrates that in pseudohypoparathyroidism the parathyroid gland retains its physiologic response to hypomagnesemia.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
3/6. The spectrum of hypoparathyroidism. Two case reports.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.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
4/6. growth and development in a girl with pseudohypoparathyroidism and hypothyroidism. A longitudinal study.Statural growth, physical and skeletal development of a girl with pseudohypoparathyroidism and primary hypothyroidism were analysed in a longitudinal study, which lasted for 12 years from the age of 0.8 years. Growth in height, which slowed down when thyroid therapy was withheld, was within the normal range. Still, as a result of early puberty, the girl became a small adult. Skeletal age was advanced over chronological years by an average of 2.7 years. This rapid skeletal development was more pronounced in the tubular bones than in the round bones of the hand. Two of the five metacarpals of the left hand grew more slowly than the others. This became clinically apparent at the age of 5.6 years. In all five metacarpals growth ceased at the same time, indicating that the abnormally short size of the two metacarpals did not result from early epiphyseal closure.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
5/6. Two cases of pseudohypoparathyroidism in adolescent boys.pseudohypoparathyroidism (PHP) is characterized by end organ resistance to parathyroid hormone (PTH). PHP type Ia consists of Albright's osteodystrophy and resistance to PTH. In PHP type Ib physical appearance is normal and there is no response to PTH in U-cAMP excretion. In PHP type II both physical appearance and U-cAMP response to PTH infusion are normal. Two adolescent patients with severe hypocalcaemia were treated in our department. The first boy was admitted because of low back pain, latent tetany and recurrent collapsing, the second one due to Grand mal epilepsia. S-Ca concentrations were very low (1.1 and 1.03 mmol/l respectively), CT of the brain revealed multiple calcifications in basal ganglia and S-PTH concentrations were above upper reference level. Therefore the diagnosis of PHP was established. In the absence of skeletal malformations the most probable diagnosis is PHP Ib or II. Clinical state of the boys has dramatically improved after calcium and vitamin d supplementation.- - - - - - - - - - ranking = 2keywords = physical (Clic here for more details about this article) |
6/6. osteitis fibrosa cystica with renal parathyroid hormone resistance: a review of pseudohypoparathyroidism with insight into calcium homeostasis.pseudohypoparathyroidism is a group of diseases characterized by renal resistance to parathyroid hormone. The patients typically have the bony manifestations of hyperparathyroidism, while being hypocalcemic. pseudohypoparathyroidism has further been subdivided into types Ia, Ib, Ic, and II. Mutations involving any number of domains of the parathyroid hormone receptor, adenylate cyclase, or G proteins may alter the cellular response to parathyroid hormone. This wide range of possible sites of mutation may explain the heterogeneous biochemical, skeletal, and physical phenotypes associated with the various types of pseudohypoparathyroidism. We describe a patient with pseudohypoparathyroidism who was successfully treated with total parathyroidectomy and gland autotransplantation. The complexities of parathyroid hormone cellular interactions and calcium homeostasis are discussed. Pseudohypoparathroidism is an unusual disease; however, it provides an elegant model for studying problems of calcium balance.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |