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Journal of Endocrinological Investigation

, Volume 25, Issue 1, pp 58–64 | Cite as

Abnormalities of GH secretion in a young girl with Floating-Harbor syndrome

  • S. Cannavò
  • L. Bartolone
  • D. Lapa
  • M. Venturino
  • B. Almoto
  • A. Violi
  • F. Trimarchi
Case Report

Abstract

We present a 9.1-year-old girl of Calabrian (Italy) ancestry, with clinical features (cranio- facial dysmorphism, short stature with delayed bone age and speech delay) suggesting the diagnosis of Floating-Harbor syndrome (FHS). Physical examination showed: height 113.9 cm (−2.9 SD), with a parent’s target of 156.2 cm (+1.0 SD), weight 20.7 kg, BMI 16.0 (−0.04 SD), and many phenotypic abnormalities: long eyelashes, large bulbous nose with broad nasal bridge, short philtrum, moderately broad mouth, tooth folding and malocclusion, posteriorly rotated ears, low posterior hair line, short neck, clinodactyly of the 5th finger and hyperextensible finger joints. Diffused hyperpigmentation and hypertrichosis with sporadic pubic terminal hairs, but neither clitoromegaly nor other signs of hyperandrogenism and/or precocious puberty, were observed (T1, P1). Carpal bone evaluation showed a delayed bone age (TW2: 5–5/10, −3.6 yr) and the statural age/bone age ratio was 1.1. Other dysmorphic syndromes were excluded on the basis of clinical evidence, also evaluated by a computer-assisted search (P.O.S.S.U.M. version 3.5, 1992). Analysis of chromosome 22 by the FISH method, using specific probes Cos29 and Tuple1, excluded microdeletions in the region 22q11.2, typical of Velo-cardio-facial syndrome. In this case, we report the impairment of serum GH responsiveness (GH baseline values: 0.2–1.9 ng/ml) to the administration of oral 150 μg clonidine [peak 4.7 ng/ml, normal values (nv)>10 ng/ml] and oral 4 mg dexamethasone (8.1 ng/ml, nv>10 ng/ml). Moreover, the evaluation of spontaneous 24-h GH secretion (Carmeda AB, Stockholm, Sweden) showed low mean GH levels (1.75 ng/ml, nv>3.0 ng/ml), with a maximum sleep-related peak of 2.8 ng/ml. Serum IGF-1 values were in the low-normal range (80–176 ng/ml, nv 133–626 ng/ml). While in FHS the cranio-facial features minimize with advancement of age, the impairment of growth velocity is permanent and results in severe dwarfism. In our case, treatment with recombinant GH (0.10 U/kg/day), administered by a needle-free device, induced a dramatic increase of growth velocity, increasing the height from −2.8 to −1.9 SD after 18 months, thus indirectly confirming a role of GH deficiency in the pathogenesis of FHS dwarfism.

Key words

Dwarfism dysmorphism Floating-Harbor growth hormone neurosecretory dysfunction 

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References

  1. 1.
    Leisti J., Hollister D.W., Rimoin D.L. Case report. In: Bergsma D. (Ed.), Syndrome identification 2:1. White plains, NY, National Foundation-March of Dimes, 1974, p. 305.Google Scholar
  2. 2.
    Gorlin R.J., Cohen M.M. Jr., Levin L.S. Unusual faces, short stature, and hypoplastic penis. (Floating-Harbor syndrome). In: Motulsky A.G., Bobrow M., Harper P.S., Scriver C. (Eds.), Syndromes of the head and neck, ed. 3. Oxford University Press, Oxford, 1990, p. 914.Google Scholar
  3. 3.
    Pelletier G., Feingold M. Case report. In: Bergsma D. (Ed.): Syndrome identification 1:1. White plains, NY, National Foundation-March of Dimes, 1973, p. 8.Google Scholar
  4. 4.
    Fryns J.P., Kleczkowska A., Timmermans J., van den Berghe H. The Floating-Harbor syndrome: two affected siblings in a family. Clin. Genet. 1996, 50: 217–219.PubMedCrossRefGoogle Scholar
  5. 5.
    Lancombe D., Patton M.A., Elleau C., Battin J. Floating-Harbor syndrome: description of a further patient, review of the literature, and suggestion of autosomal dominant inheritance. Eur. J. Pediatr. 1995, 154: 658–661.CrossRefGoogle Scholar
  6. 6.
    Robinson P.L., Shohat M., Winter R.M., Conte W.J., Gordon-Nesbitt D., Feingold M., Laron Z., Rimoin D.L. A unique association of short stature, dysmorphic features, and speech impairment (Floating-Harbor syndrome). J. Pediatr. 1988, 113: 703–706.PubMedCrossRefGoogle Scholar
  7. 7.
    Patton M.A., Hurst J., Donnai D., Mckeown C.M.E., Cole T., Goodship J. Syndrome of the month: Floating-Harbor syndrome. J. Med. Genet. 1991, 28: 201–204.PubMedCentralPubMedCrossRefGoogle Scholar
  8. 8.
    Lazebnik N., McPherson E., Rittmeyer L.J., Mulvihill J.J. The Floating-Harbor syndrome with cardiac septal defect. Am. J. Med. Genet. 1996, 18: 300–302.CrossRefGoogle Scholar
  9. 9.
    Midro A.T., Olchowik B., Rogowska M., Hubert E., Hassman-Poznanska E., Papasz A., Szulc S., Wisniewski A. Floating-Harbor syndrome. Case report and further syndrome delineation. Ann. Genet. 1997, 40: 133–138.PubMedGoogle Scholar
  10. 10.
    Ghigo E., Imperiale E., Boffano G.M., Mazza E., Bellone J., Arvat E., Procopio M., Goffi S., Barreca A., Chiabotto P., Lala R., De Sanctis C., Boghen M.F., Muller E.E., Camanni F. A new test for the diagnosis of growth hormone deficiency due to primary pituitary impairment: combined administration of pyridostigmine and growth hormone-releasing hormone. J. Endocrinol. Invest. 1990, 13: 307–316.PubMedCrossRefGoogle Scholar
  11. 11.
    Gild-ad I., Topper E., Laron Z. Oral clonidine as a growth hormone stimulation test. Lancet 1979, 2: 278–279.Google Scholar
  12. 12.
    Pineda J., Martul P., Casanueva F.F., Dieguez C., Rica I., Loridan L. Oral dexamethasone administration: new pharmacological test for the assessment of growth hormone secretion. Eur. J. Endocrinol. 1994, 131: 598–601.PubMedCrossRefGoogle Scholar
  13. 13.
    Pineda J., Dieguez C., Casanueva F.F., Martul P. Decreased growth hormone response to dexamethasone stimulation test in obese children. Acta Pediatr. 1994, 83: 103–105.CrossRefGoogle Scholar
  14. 14.
    Diamond F.B., Jorgensen E.V., Root A.W., Shulman D.I., Sy J.P., Blethen S.L., Bercu B.B. The role of serial sampling in the diagnosis of growth hormone deficiency. Pediatrics 1998, 102: 521–524.PubMedGoogle Scholar
  15. 15.
    Shprintzen R.J., Goldberg R.B., Young D., Wolford L. The velo-cardio-facial syndrome: a clinical and genetic analysis. Pediatrics 1981, 67: 167–172.PubMedGoogle Scholar
  16. 16.
    Feldman M., Gilgenkrantz S., Parisot S., Zarini G., Marchal C. 3M dwarfism: a study of two further sibs. J. Med. Genet. 1989, 26: 583–585.CrossRefGoogle Scholar
  17. 17.
    Allanson J.E., Hennekam R.C. Rubinstein-Taybi syndrome: objective evaluation of craniofacial structure. Am. J. Med. Genet. 1997, 71: 414–419.PubMedCrossRefGoogle Scholar
  18. 18.
    Chudley A.E., Moroz S.P. Floating-Harbor syndrome and celiac disease. Am. J. Med. Genet. 1991, 38: 562–564.PubMedCrossRefGoogle Scholar
  19. 19.
    Houlston R.S., Collins A.L., Dennis N.R., Temple I.K. Further observations on the Floating-Harbor syndrome. Clin. Dysmorphol. 1994, 3: 143–149.PubMedGoogle Scholar
  20. 20.
    Shalet S.M, Toogood A., Rahim A., Brennan M.D. The diagnosis of growth hormone deficiency in children and adults. Endocr. Rev. 1988, 19: 203–233.CrossRefGoogle Scholar
  21. 21.
    Houdijk E.C.A.M., Herdes E., Delemarre-van de Waal H.A. Pharmacokinetics and pharmacodynamics of recombinant human growth hormone by subcutaneous jetor needle-injection in patients with growth hormone deficiency. Acta Pediatr. 1997, 86: 1301–1307.CrossRefGoogle Scholar
  22. 22.
    Verrips G.H., Hirasing R.A., Fekkes M., Vogels T., Verloove-Vanhorick S.P., Delemarre-van de Waal H.A. Psychological responses to the needle-free Medi- Jector or the multidose Disetronic injection pen in human growth hormone therapy. Acta Pediatr. 1998, 87: 154–158.CrossRefGoogle Scholar

Copyright information

© Italian Society of Endocrinology (SIE) 2002

Authors and Affiliations

  • S. Cannavò
    • 1
  • L. Bartolone
    • 1
  • D. Lapa
    • 1
  • M. Venturino
    • 1
  • B. Almoto
    • 1
  • A. Violi
    • 1
  • F. Trimarchi
    • 1
  1. 1.University of MessinaMessinaItaly

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