Bertelloni, S

CORSELLO, Giovanni

LIOTTA, Andrea

MAGGIO, Maria Cristina

English

Archivio istituzionale della ricerca - Università di Palermo

19750th Annual Meeting of the ESPE __________________________________________________ _____________________________________________________________________Horm Res 2011;76(suppl 2)______________________________________P2-d1-630 GH and IGF Treatment 1Accurate long-term prediction of height development during growth hormone (GH) treatment in prepubertal children with growth (TS)Michael B. Ranke1; Anders Lindberg2; Mathias Brosz3; Stefan Kaspers4; Jane Loftus5; Hartmut Wollmann4; Maria Koltowska-Haggstrom2; Mathieu Roelants61University Children’s Hospital, Paediatric Endocrinology, Tuebingen, Germany; 2Outcomes, Stockholm, Sweden; 3StatConsult, Gesellschaft für klinische und Versorgungsforschung mbH, Magdeburg, Germany; 4Kingdom; 56Free University Brussels, Laboratory of Anthropogenetics, Brussels, BelgiumBackground: Treatment with GH during the pre-pubertal years is essential for improvement of the height outcome of short children. Optimizing and individualizing GH therapy requires the accurate simulation of height devel-opment based on empirical growth prediction models early during the course of treatment.Methods: Pre-pubertal children with idiopathic GHD or TS documented step, cohorts which had previously been used to develop models for the pre-treatment were analyzed and a prediction algorithm for the annual gain in weight for an observed gain in height was developed. In a second step, the 664 GHD and 607 TS patients from GH start up to 4 prepubertal years). The most likely height development was simulated prospectively by sequential -isting yearly prediction algorithms for HV.Results: When height was simulated from GH start in GHD, the predicted height was 30.0 (5.0) cm. In TS the corresponding predicted and observed mean gains were 27.2 (2.2) cm and 26.5 (3.8) cm respectively. The simula-tion model was predictive in all but 22 (3.3%) of the 664 cases of the GHD validation cohort from GH start. This proportion was below 2% for all of the Conclusion: Sequential application of annual prediction models permits ac-treatment in GHD and TS. The system is applicable for groups from GH start ______________________________________P2-d1-631 GH and IGF Treatment 1Growth hormone treatment in a family with Léri Weill syndrome due to contiguous gene syndromeFelix Reschke1; Gabriele Hahn2; Werner Walter3; Angela Huebner11Technical University Dresden, Division of Paediatric Endocrinology and Diabetology, Children`s Hospital, Dresden, Germany; 2Technical University Dresden, Division of Paediatric Radiology, Dresden, Germany; 3Technical University Dresden, Institute of Clinical Genetics, Dresden, GermanyBackground: Léri Weill syndrome (LWS) is a pseudoautosomal inherited skeletal dysplasia being associated with SHOX -short stature and a characteristic dysostosis of the wrist (Madelung defor-patients is comparable to that of patients with Turner syndrome.Objective and hypotheses: to a X/Y translocation and contiguous gene syndrome with lack of the SHOX, with a height of 122.9 cm (- 3.3 SDS), facial dysmorphism, mental retardation and ichthyosis. Chromosomal analysis revealed a deletion of Xp including the PAR with translocation of the duplicated Yq to the X chromosome. Af-height of 145.9 (-3.8 SDS). Two adult sisters of the patient had the same chro-mosomal aberration and presenting with short stature (-2.6 and -2.0 SDS), but lacking ichthyosis and mental retardation. Altogether they have 3 affected sons, which are treated with GH starting at Tanner stage 1.Results: In boy 1 treatment started at age 5.7 years (height -2.7 SDS). After 2.2 years height SDS gain was 0.7. Boy 2 was treated from age 4.5 years (height -2.2 SDS) for two years when a gain in height SDS of 0.8 was noted. In boy 3 treatment started at age 2.3 years (height -3.5 SDS). After 1.1 years on GH height SDS gain was 0.5.Conclusions: The improvement of height SDS by GH substitution in these re-ported cases of familiar LWS depended on the age of initiation of GH therapy. height in these young patients will be comparable to those shown in a former SDS was demonstrated.______________________________________P2-d1-632 GH and IGF Treatment 1Growth hormone treatment in a patient with Langer mesomelic dysplasiaMaria Cristina Maggio1; Andrea Liotta2; Silvano Bertelloni3; Giovanni Corsello21University of Palermo, University Department “Materno-Infantile, of Andrology and Urology”, Palermo, Italy; 2University of Palermo, University Department, Palermo, Italy; 3University of Pisa, Pediatric Endocrinology, Division of Paediatrics, Department of Reproductive Medicine and Paediatrics, Pisa, ItalyBackground: --sion of the SHOX gene in growing skeletal tissue of distal femur and tibia, ulna and radius has been detected.Objective and hypotheses: -deformities.Methods: He was surgically treated for the scoliosis and at the age of 4 years, on the basis of genetic diagnosis of SHOX gene homozygous mutation, he started the treatment with GH for the poor growth, at the mean dose of 0,045 mg/kg/die.Results: The growth velocity of the patient evidenced an improvement in the of height velocity in the following years. At the age of 12 years his pubertal stage is PH2G2, his testicular volume 4 ml, his growth velocity is < 1 cm/year. The stature is 130 cm; the weight 30 kg. For the failure to achieve growth improvement, he stopped GH treatment. During the follow up however there was no worsening of the skeletal deformities.Conclusions: Only a few cases of patients with homozygous mutation of SHOX gene treated with GH are described in the international literature. In a case with combined Turner syndrome and a deletion in the normal X chromo-homozygous mutation of the SHOX gene, even if not treated with GH. Hence these patients may not improve their linear growth with GH treatment.

GROWTH HORMONE TREATMENT IN A PATIENT WITH LANGER MESOMELIC DYSPLASIA

https://iris.unipa.it/bitstream/10447/78127/2/ESPE2011_Langer.pdf

GROWTH HORMONE TREATMENT IN A PATIENT WITH LANGER MESOMELIC DYSPLASIA

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