Laron Syndrome: A Tale of Two Siblings.
Laron syndrome
growth hormone insensitivity
short stature
Journal
Journal of the ASEAN Federation of Endocrine Societies
ISSN: 2308-118X
Titre abrégé: J ASEAN Fed Endocr Soc
Pays: Philippines
ID NLM: 8608483
Informations de publication
Date de publication:
2023
2023
Historique:
received:
14
03
2023
accepted:
16
05
2023
medline:
5
12
2023
pubmed:
4
12
2023
entrez:
4
12
2023
Statut:
ppublish
Résumé
Primary growth hormone (GH) resistance or growth hormone insensitivity syndrome, also called Laron syndrome, is a hereditary disease caused by mutations in the GH receptor or in the post-receptor signaling pathway. This disorder is characterized by postnatal growth failure resembling GH deficiency. Differentiating the two conditions is necessary. We present the cases of two siblings, a 16-year-old female and a 9-year-old male, born from a consanguineous union. Both had normal birth weights with subsequent severe short stature and delayed teeth eruption, with no features suggestive of any systemic illness. Serum insulin-like growth factor 1 (IGF1) and insulin-like growth factor binding protein 3 (IGFBP3) were both low. Suspecting GH deficiency, provocative testing with clonidine was done revealing peak growth hormone >40 ng/mL in both patients. In view of low IGF1 and IGFBP3 and high GH on stimulation, IGF1 generation test was done for both siblings, with values supporting the diagnosis of GH insensitivity or Laron syndrome.
Identifiants
pubmed: 38045665
doi: 10.15605/jafes.038.02.22
pii: JAFES-38-2-124
pmc: PMC10692433
doi:
Substances chimiques
Growth Hormone
9002-72-6
Human Growth Hormone
12629-01-5
Receptors, Somatotropin
0
Types de publication
Case Reports
Langues
eng
Sous-ensembles de citation
IM
Pagination
124-127Informations de copyright
© 2023 Journal of the ASEAN Federation of Endocrine Societies.
Déclaration de conflit d'intérêts
The authors declared no conflict of interest.
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