Isolated growth hormone deficiency type 1A ina Japanese family

Nishi, Yoshikazu; Aihara, Katsuaki; Usui, Tomofusa; Phillips, John A.; Mallonee, Richard L.; Migeon, Claude J.

doi:10.1016/s0022-3476(84)80487-4

Cited by 29 publications

(15 citation statements)

References 14 publications

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“…In contrast, in our cases plasma Gil was detected with HGH-RIA, though it was clearly lower than those in normal children. These suggested that the defect of Gil secreting cells and Gil genomes were not complete in our cases, while normal Gil genomes and normal Gil secretions were absent in cases reported previously (Phillips et al 1981(Phillips et al , 1982Nishi et al 1984). Furthermore, significant increases in plasma Gil levels were not obtained even with repeated injections of GRH for 7 days.…”

Section: Discussioncontrasting

confidence: 48%

“…These findings led us to consider that IGHD with the autosomal-dominant form of heredity in our cases was not due to the large mutation of Gil genomes. Some reports (Phillips et al 1981(Phillips et al , 1982Nishi et al 1984) showed the complete deletion of Gil genomes in autosomal-recessive IGHD patients. In their cases, plasma Gil levels were always undetectable.…”

Section: Discussionmentioning

confidence: 99%

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A family case with autosomal-dominantly inherited pituitary dwarfism.

Tani

Kaneko²,

Momotsu³

et al. 1987

Tohoku J. Exp. Med.

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Isolated growth hormone (GH) deficiency (IGHD) is detected in 1 / 10 of pituitary dwarfism, but there are only a few reports on IGHD as an autosomal-dominant trait. We found one family with autosomal-dominantly inherited IGHD and examined their pituitary functions and GH genomes. Brothers (9.5 year and 11 year) and their mother (37 year) were diagnosed as having IGHD and their grandmother and uncle also seemed to have IGHD. All of their heights were under "mean 4.0 s.D.". Cerebral tomograpy of brothers and their mother all showed "empty sella", and GH-releasing hormone (GRH) tests showed no responses of GH not only to bolus intravenous injections but also after repeated intramuscular injections of GRH (100,ug/day) for 7 days. Although genetic analysis (Southern blotting method) could not detect any mutations in their GH genomes, the IGHD lesion of them seemed to be pituitary in origin. pituitary dwarfism ; autosomal-dominant ; family casePituitary dwarfism is often familial, but most of familial cases were of autosomal-recessive form, and there were only a few reports of those with the autosomal-dominant form (Tysone 1971;Poskitt and Rayner 1974; van Gelderen and van der bog 1981;Rogol et al. 1985). As to the lesion in the latter cases, there were few reports suggesting that the lesion was either pituitary or hypothalamic. To resolve this problem, GRH tests including both bolus and repeated injections of GRH and cerebral tomography were undertaken.Furthermore, to examine whether the etiology of the autosomal-dominant form of IGHD was due to abnormalities of GH genomes or not, genetic analysis was carried out.

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Section: Discussioncontrasting

confidence: 48%

Section: Discussionmentioning

confidence: 99%

A family case with autosomal-dominantly inherited pituitary dwarfism.

Tani

Kaneko²,

Momotsu³

et al. 1987

Tohoku J. Exp. Med.

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“…Plasma hGH, TSH, FSH, ACTH and prolactin were measured with commercial radioimmunoassay kits, Plasma from the patients was repeatedly examined for the presence of anti-hGH antibodies by the method of Roth et al (1964). Clinical and laboratory data for the first patient described in Japan (Nishi et al, 1984) are included in Table 1 for a reference.…”

Section: Methodsmentioning

confidence: 99%

“…Later, Phillips III et al (1981) clarified, based on restriction endonuclease analysis, that the Swiss patients described by Illig et al (1970) were homozygous for a deletion of approximately 7.5 kilobases (kb) of DNA which contained the normal hGH gene (hGH-N). Subsequent studies disclosed the disease in children in Austria (Phillips III, 1983), Argentina (Phillips III, 1983;Rivarola et aL, 1984), Japan (Phillips III, 1983;Nishi et aL, 1984), Italy (Braga et al, 1985), Israel (Laron et al, 1985) and France (Goossens et al, 1986). The phenotypes of the affected subjects differed in several respects.…”

Section: Introductionmentioning

confidence: 99%

Heterogeneous phenotypes of Japanese cases with a growth hormone gene deletion

et al. 1987

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SummaryWe studied four Japanese patients with isolated growth hormone (hGH) deficiency from three different families. There was consanguinity in two of the three families, land three patients were second cousins. Each patient was homozygous for a deletion of approximately 7.5 kilobases, which included the hGH-N gene. The deletions in three patients belonging to two different families were associated with the same restriction fragment length polymorphism haplotype, while the deletion of the other patient was associated with a different haplotype. All patients were treated with injections of pituitary hGH. The response to the therapy differed among them, that is, two patients belonging to different families showed a poor response together with the presence of anti-hGH antibodies, while the other two patients belonging to the same family showed a rather good response together with the absence of such antibodies. It is suggested that the production of anti-hGH antibodies is not solely due to the gene deletion, but that an unknown immunological disposition might also be involved.

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“…La alteracion o deleccion del gen hGH-N 3 sen'a la causa de la aparicion de anticuerpos anti-hGH, lo que es consistente con el concepto de que el sistema inmune del individuo reconoceria a la hGH exogena como protema extrana, ya que el genoma no tuvo la posibilidad de codificarla. Esta deficiencia se transmite en forma autosomica recesiva 4 ' s .…”

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Agenesia del pulmón derecho en un recién nacido

M¹,

G²

1992

Rev. chil. pediatr.

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Response to biosynthetic human growth hormone in patients with isolated type I-A and idiopatic growth hormone deficiencyResponse to treatment with biosyntetic hGH was studied in four patients with isolated GH deficiency tyoe I-A. This response was compared with that of four patients with GH deficiency of the idiopathic type submitted to the same treatment. Patients were five boys and three girls aged 5 to 1 6 years. Ail them showed yearly growth rates of idiopathic isolated GH deficiency: they grew 11.2 cm, mean, over first year of treatment. Two among four patients ciency typg I-A had severe growth retardation and peculiar facies and three of them had a family history of another brother with the same picture. All patients were treated with biosynthetic hGH (Genotropin Kabi), in subcutaneous doses of 0.5 U • kg -week for aproximately one year. Treatment results were good in those four patients with idiopathic isolated GH deficiency: •they grew 11,2 cm, mean, over the first year of treatment. Two among four patients assumed to have an isolated GH deficiency of the I-A type showed a good response, similar to that of idiopathic GH deficiency patients, whife the other two subjects grew well only through the first three months, but thereafter their growth rate decreased to that shown before treatment. Children with idipathlc GH deficiency respond well to exogenous administration of hGH, whereas patients with GH deficiency of the I-A type present a variable response to this treatment. (Key words: growth hormone deficiency type I-A, idiopathic treatment, biosynthetic hGH.)Las causas de deficiencia de hormona de crecimiento (GH) son numerosas y pueden agruparse en congenitas (frecuentemente asociadas a defectos de la h'nea media de la cara o del craneo), traumaticas (incluyendo injurias neonatales), infecciosas, inmunologicas, vasculares, tumores hipotalamo-hipoftsiarios, secundarias a irradiacion del craneo, idiopaticas y geneticas (por alteracion ge"nica en la codification de la hormona o falta de respuesta a ella por defectos de receptores) 1 .De todas las mencionadas, la mas comiin es la deficiencia idiopatica, en que no puede demostrarse lesion organica durante la vida del paciente y cuya naturaleza es un enigma, habiendose sugerido que un proceso autoinmune pudiera ser el responsable, sin que hasta el momento existan pruebas convincentes de ello. El estudio retrospectivo de la historia de los nifios con deficiencia idiopatica de GH revela alta incidencia de problemas perinatales como partos en podalica, forceps, trabajo de parto prolongado o inusualmente corto. Se ha sugerido que esto pudiera causarhipopituitarismo, aunque clinicamente no se detecte asfixia o sufrimiento fetal. Por otro lado, si el sistema endocrino fetal tiene una funcion en la induction del parto, es posible que una enfermedad hipotalamica o hipofisiaria del feto contribuya a un parto anormal y morbilidad neonatal.Entre las causas geneticas de deficiencia de GH esta una deletion (u otra alteracion) del gen de la GH (hGH-N) ubicado en el brazo la...

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Isolated growth hormone deficiency type 1A ina Japanese family

Cited by 29 publications

References 14 publications

A family case with autosomal-dominantly inherited pituitary dwarfism.

A family case with autosomal-dominantly inherited pituitary dwarfism.

Heterogeneous phenotypes of Japanese cases with a growth hormone gene deletion

Agenesia del pulmón derecho en un recién nacido

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