Shinobu Koto

Japanese type of spondylo-metaphyseal dysplasia

Five members of a Japanese family with a new form of spondylo-metaphyseal dysplasia (SMD) are reported. Another member was also probably affected. The disease was characterised by severe coxa vara, moderately severe metaphyseal changes of the long bones of the lower limbs, mild changes in the long bones of the upper limbs and grossly normal short tubular bones. Platyspondyly, present in the boys, was less marked in their father, whereas two affected aunts had normally shaped vertebral bodies.

Unmasking of latent hypoparathyroidism in a child with partial DiGeorge syndrome by ethylenediaminetetraacetic acid infusion

DiGeorge syndrome is a rare congenital anomaly with a wide range of clinical manifestations. This syndrome is usually associated with hypocalcaemia resulting from primary hypoparathyroidism. We report here a case of an 8-year-old boy with partial DiGeorge syndrome who presented initially with neonatal hypocalcaemia, but was subsequently normocalcaemic. Latent hypoparathyroidism was unmasked by a diagnostic EDTA infusion resulting in hypocalcaemia without a parathyroid hormone response. We propose that EDTA infusions can be useful in the diagnosis of latent hypoparathyroidism in children.

Malignant thymoma in a patient with growth hormone deficiency during growth hormone therapy.

Malignant thymoma was found in an 8-year-old Japanese boy with growth hormone (GH) deficiency who had received GH therapy for 3 years and 5 months. There may be a possible relationship between the occurrence of malignant thymoma and GH therapy.

Patients with Hypophosphatemic Osteomalacia Need Continuous Treatment during Adulthood

The treatment for hypophosphatemic rickets in children includes phosphate and vitamin D preparations. In children, this regimen significantly improves symptoms, while a treatment for adult patients has not been established. We therefore investigated the clinical courses of 15 adult patients who discontinued therapy when final height was achieved in order to assess the necessity of treatment in adulthood. Thirteen patients developed symptomatic complications, including bone fractures. Among the 13, the 10 patients who restarted therapy all showed clinical improvement, and no side effects of treatment were observed. This study shows that there are some patients with hypophosphatemic osteomalacia who need continuous treatment during adulthood.

Transition from latent to overt hypoparathyroidism in a child with CATCH 22

Sir: 5-~ reductase deficiency does not appear to impair fertility in females, not even in homozygotes. However, semen production is androgen-dependent, though it is unclear whether testosterone or its 5-c~ reductase reduced metabolite, dihydrotestosterone, is the critical hormone in this reRh spect. There have been two reports of 5-c~ PGM reductase deficient patients whose sperm was normal in concentration, count, motilGc ity and morphology [1, 3]. It is a pleasure GLO to be able to report that of three brothers D2S44 with 5-c~ reductase deficiency previously D14S13 reported [2], two have since become fathers. D 12S 11 D7S21