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Long-term growth hormone therapy in adulthood results in significant linear growth in siblings with a PROP-1 gene mutation.
dc.contributor.author | Lee, Judy K. | |
dc.contributor.author | Zhu, Yuan Shan | |
dc.contributor.author | Cordero, Juan J. | |
dc.contributor.author | Cai, Li- Qun | |
dc.contributor.author | Labour, Iluminada | |
dc.contributor.author | Herrera, Cecilia | |
dc.contributor.author | Imperato McGinley, J. | |
dc.date.accessioned | 2018-12-14T02:13:31Z | |
dc.date.available | 2018-12-14T02:13:31Z | |
dc.date.issued | 2004 | |
dc.identifier.citation | Lee J. K., Zhu Y. S., Cordero J. J., Cai L.Q., Labour I., Herrera C., et al. Long-term growth hormone therapy in adulthood results in significant linear growth in siblings with a PROP-1 gene mutation. J Clin Endocrinol Metab (2004) ; 89(10) :4850–4856. | en |
dc.identifier.issn | 0021972X | |
dc.identifier.uri | https://academic.oup.com/jcem/article/89/10/4850/2844141 | |
dc.description.abstract | PROP-1 g ene mutations result in impaired production of GH, gonadotropins, TSH, and prolactin. We describe three adult siblings, aged 18-25 yr, with short stature, hypothyroidism, and lack of pubertal maturation, who were homozygous for 301- 302delAG PROP-1 mutation. We had the unique opportunity to treat them in adulthood with GH for 4-5 yr and thyroid replacement before sex steroid replacement. Sibling 1, a female, had a chronological age (CA) of 25 yr 8 months, a bone age (BA) of 12.5 yr, and height of 128.7 cm [-5.29 SD score (SDS)]; sibling 2, a younger sister had a CA of 22 yr 5 months, a BA of 13 yr, and height of 137.5 cm (-3.94 SDS); and sibling 3, a male, had a CA of 18 yr 4 months, a BA of 11.5 yr, and height of 127.5 cm (-6.38 SDS). Despite delay in treatment and fairly advanced BA, all responded to GH and thyroid hormone therapy with a dramatic increase in linear growth: 22.3 cm for sibling 1, 22 cm for sibling 2, and 34.5 cm for sibling 3. After sex hormone replacement, siblings 1,2, and 3 grew another 2.6,3, and 9.5 cm to final heights of 153.6, 162.5, and 171.5 cm, respectively. In conclusion, the substantial linear growth in admit siblings with a PROP-1 mutation illustrates that despite an advanced BA, linear growth potential remains in adulthood in the setting of sex steroid deficiency. | en |
dc.language.iso | en | en |
dc.publisher | Journal of Clinical Endocrinology and Metabolism | en |
dc.relation.ispartofseries | 89 (10); | |
dc.rights | Attribution-NonCommercial-NoDerivatives 4.0 Internacional | * |
dc.rights.uri | http://creativecommons.org/licenses/by-nc-nd/4.0/ | * |
dc.subject | Hormona del crecimiento | es_ES |
dc.subject | Mutación | es_ES |
dc.subject | Hipotiroidismo | es_ES |
dc.subject | Enanismo | es_ES |
dc.subject | Factores de la edad | es_ES |
dc.title | Long-term growth hormone therapy in adulthood results in significant linear growth in siblings with a PROP-1 gene mutation. | en |
dc.type | Article | en |