Abstract
Coinheritance of X-linked agammaglobulinemia and growth hormone deficiency (XLA/GHD) has been classified as an independent primary immune deficiency. We evaluated the pattern of growth and endocrine function in seven XLA subjects (ages 10.9-20.1 years); four belonged to two different XLA pedigrees and three represented sporadic XLA cases. Three had reached adulthood (final stature 176.0, 173.5 and 165.0 cm, respectively) and their retrospective growth showed delay in growth and puberty during adolescence. In the other four subjects, growth hormone production was measured by growth hormone pharmacological stimulation tests (clonidine, arginine): three of four patients had insufficient growth hormone responses (peak growth hormone <10 μg/l); all three had delayed puberty; their growth hormone responses increased after 'priming' with testosterone, reaching values > 10 μg/l in two of them and allowing diagnosis of 'true' growth hormone deficiency in the third. The fourth was a normally growing subject who showed a normal growth hormone response both before and after testosterone priming. Six out of the seven subjects showed a growth pattern consistent with delay in growth and puberty. Our results suggest that true XLA/GHD is rarer than previously supposed and that subnormal responses to growth hormone stimulation tests may be found without sex steroid priming of the test in adolescence. The most probable growth pattern in XLA appears to be delay in growth and puberty, as has already been described for other chronic diseases.
| Original language | English |
|---|---|
| Pages (from-to) | 99-102 |
| Number of pages | 4 |
| Journal | Acta Paediatrica, International Journal of Paediatrics |
| Volume | 83 |
| Issue number | 1 |
| Publication status | Published - 1994 |
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Keywords
- agammaglobulinemia
- delayed puberty
- growth delay
- growth hormone deficiency
- X-linked agammaglobulinemia
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health
Cite this
X-linked agammaglobulinemia, growth hormone deficiency and delay of growth and puberty. / Buzi, F.; Notarangelo, L. D.; Plebani, A.; Duse, M.; Parolini, O.; Monteleone, M.; Ugazio, A. G.
In: Acta Paediatrica, International Journal of Paediatrics, Vol. 83, No. 1, 1994, p. 99-102.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - X-linked agammaglobulinemia, growth hormone deficiency and delay of growth and puberty
AU - Buzi, F.
AU - Notarangelo, L. D.
AU - Plebani, A.
AU - Duse, M.
AU - Parolini, O.
AU - Monteleone, M.
AU - Ugazio, A. G.
PY - 1994
Y1 - 1994
N2 - Coinheritance of X-linked agammaglobulinemia and growth hormone deficiency (XLA/GHD) has been classified as an independent primary immune deficiency. We evaluated the pattern of growth and endocrine function in seven XLA subjects (ages 10.9-20.1 years); four belonged to two different XLA pedigrees and three represented sporadic XLA cases. Three had reached adulthood (final stature 176.0, 173.5 and 165.0 cm, respectively) and their retrospective growth showed delay in growth and puberty during adolescence. In the other four subjects, growth hormone production was measured by growth hormone pharmacological stimulation tests (clonidine, arginine): three of four patients had insufficient growth hormone responses (peak growth hormone <10 μg/l); all three had delayed puberty; their growth hormone responses increased after 'priming' with testosterone, reaching values > 10 μg/l in two of them and allowing diagnosis of 'true' growth hormone deficiency in the third. The fourth was a normally growing subject who showed a normal growth hormone response both before and after testosterone priming. Six out of the seven subjects showed a growth pattern consistent with delay in growth and puberty. Our results suggest that true XLA/GHD is rarer than previously supposed and that subnormal responses to growth hormone stimulation tests may be found without sex steroid priming of the test in adolescence. The most probable growth pattern in XLA appears to be delay in growth and puberty, as has already been described for other chronic diseases.
AB - Coinheritance of X-linked agammaglobulinemia and growth hormone deficiency (XLA/GHD) has been classified as an independent primary immune deficiency. We evaluated the pattern of growth and endocrine function in seven XLA subjects (ages 10.9-20.1 years); four belonged to two different XLA pedigrees and three represented sporadic XLA cases. Three had reached adulthood (final stature 176.0, 173.5 and 165.0 cm, respectively) and their retrospective growth showed delay in growth and puberty during adolescence. In the other four subjects, growth hormone production was measured by growth hormone pharmacological stimulation tests (clonidine, arginine): three of four patients had insufficient growth hormone responses (peak growth hormone <10 μg/l); all three had delayed puberty; their growth hormone responses increased after 'priming' with testosterone, reaching values > 10 μg/l in two of them and allowing diagnosis of 'true' growth hormone deficiency in the third. The fourth was a normally growing subject who showed a normal growth hormone response both before and after testosterone priming. Six out of the seven subjects showed a growth pattern consistent with delay in growth and puberty. Our results suggest that true XLA/GHD is rarer than previously supposed and that subnormal responses to growth hormone stimulation tests may be found without sex steroid priming of the test in adolescence. The most probable growth pattern in XLA appears to be delay in growth and puberty, as has already been described for other chronic diseases.
KW - agammaglobulinemia
KW - delayed puberty
KW - growth delay
KW - growth hormone deficiency
KW - X-linked agammaglobulinemia
UR - http://www.scopus.com/inward/record.url?scp=0028345772&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0028345772&partnerID=8YFLogxK
M3 - Article
C2 - 8193484
AN - SCOPUS:0028345772
VL - 83
SP - 99
EP - 102
JO - Acta Paediatrica, International Journal of Paediatrics
JF - Acta Paediatrica, International Journal of Paediatrics
SN - 0803-5253
IS - 1
ER -