Taiji Aso

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.

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.

Clinical information on serum IGFBP-3 levels and IGFBP-3 proteolytic activity in childhood

In this review paper, three pieces of clinical information in childhood are presented: (1) IGFBP-3 may replace GH provocation tests in the diagnosis of GH deficiency (GHD); (2) IGFBP-3 levels are regulated by IGF-I levels in a short period, and (3) ratio of free IGF-I to total IGF-I is high in serum of early infancy, similarly to serum of pregnancy, only partially owing to the presence of IGFBP-3 proteolytic activity. Each paper will be published soon.

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