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Objectives: To evaluate the long-term effects of GH therapy in early diagnosed GH-deficient patients treated before 1 year of age. Study design: We studied all 59 patients (33 males) recorded by Association France-Hypophyse and treated with GH (0.50 Ϯ 0.15 IU/kg (S.D.) per week) before 1 year of age. Clinical presentation and growth parameters under GH treatment were analyzed. Results: Neonatal manifestations of hypopituitarism were frequent: hypoglycemia (n ¼ 50), jaundice (n ¼ 25) and micropenis (n ¼ 17/33). Although birth length was moderately reduced (¹0.9 Ϯ 1.4), growth retardation at diagnosis (5.8 Ϯ 3.8 months) was severe (¹3.5 Ϯ 1.9 standard deviation scores (SDS)). Fifty patients (85%) had thyrotropin and/or corticotropin deficiency. After a mean duration of GH therapy of 8.0 Ϯ 3.6 years, change in height SDS was þ3:11 Ϯ 2:06 S.D., exceeding 4 SDS in 19 patients. Only 9 patients (15%) did not reach a height of ¹2 S.D. for chronological age and 20 patients (34%) exceeded their target height. Pretreatment height SDS was independently associated with total catch-up growth. Conclusion: Conventional doses of GH allow normalization of height in patients with early GH deficiency and treatment.

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Low vitamin A levels occur frequently in clinically stable, eutrophic and retinol supplemented CF adolescents. Since vitamin A deficiency is associated with poor nocturnal vision and since this pattern can be reversed by adapted retinol supplementation, we recommend monitoring plasma vitamin A levels in CF patients and evaluation of dark adaptation in retinol deficient patients.

In understanding Turner's syndrome, spontaneous adult height is a prerequisite for an accurate assessment of the therapeutic efficiency of growth hormone treatment. The heights described in the literature reveal significant differences (136-147 cm). Our collaborative study pooled results from 16 pediatric endocrinology centers and obtained a large number of spontaneous adult heights (n = 216). The selective criteria were: chronological age (CA) > 18 years, bone age (BA) > 16 years, typical karyotype, no treatment with growth hormone or anabolic steroids. Mean CA was 23.3 +/- 5.6 years. Chromosomal anomalies were: monosomy X 56%; mosaicism 37.2%; structural aberration 10.6%. Mean final height in the whole group was 141.5 (129-160) cm. There was no significant difference in height between the three groups: monosomy X (n = 121: 141.1 +/- 6.4 cm); mosaicism (n = 72: 141.5 +/- 7.5 cm); X anomaly (n = 23: 141.4 +/- 5.0 cm). Mean parental height was 170.4 +/- 7.1 cm (father) and 160.1 +/- 6.2 cm (mother). Parental height and patients' heights correlated significantly, but more so with fathers' heights (r = 0.50) than with mothers' (r = 0.42). The correlation was still apparent with the target height (r = 0.55). The results of different series in the literature show the existence of significant variations as mean final heights are between 136 and 147 cm. These differences can be explained by the variations in normal female heights in each country. We have found in these different countries a very strong correlation (r = 0.91) between normal height and final height in Turner's syndrome.(ABSTRACT TRUNCATED AT 250 WORDS)

A total of 252 chromosomes from 126 patients with phenylalanine hydroxylase (PAH) deficiencies were analyzed for both mutant genotypes and restriction fragment length polymorphism (RFLP) haplotypes at the PAH locus. The mutant genes studied originated either from Western Europe (116 alleles) or from Mediterranean countries (136 alleles). Only 27% of all mutant alleles were found to carry identified mutations, particularly mutations at codon 252 (2.3%), 261 (7.5%), 280 (6.3%), 408 (3.5%) and at the splice donor site of intron 12 (6.3%). The mutant genotypes were associated with RFLP haplotypes 7, 1, 38, 2 and 3 at the PAH locus respectively. Except for the splice mutation of intron 12, these associations were preferential, but not exclusive, since the other four mutations were found on the background of at least two RFLP haplotypes. These results, together with the observation that 85% of PAH deficient patients are heterozygotes for their mutant genotypes, emphasize the great heterogeneity of PAH deficiencies in Mediterranean countries and hamper systematic DNA testing for carrier status in this population.

The Coffin‐Lowry syndrome is an inherited syndrome of mental retardation, characteristic facies and skeletal anomalies. The occurrence of severe manifestations in males, with no instance of male‐to‐male transmission, suggests an X‐linked inheritance. The paper describes seven families from five European Centers.

We report four cases of progressive thalamic atrophy following ipsilateral cerebral infarction in the territory of the middle cerebral artery in neonates, with prospective radiological and clinical follow-up. This type of atrophy appears within 6 months after the onset of cerebral infarction. In the short term, this atrophy has no action on sensory and memory function and/or on sensory evoked potentials. This atrophy is not the result of secondary ischemic neuronal damage. Judging from several other experimental studies, thalamic atrophy may primarily result from retrograde degeneration. It would be interesting to observe the consequences of this atrophy on sensory and memory function over a long period.