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Fanconi Anemia and Laron Syndrome.

Abstract Fanconi anemia (FA) is a condition characterized by genetic instability and short stature, which is due to growth hormone (GH) deficiency in most cases. However, no apparent relationships have been identified between FA complementation group genes and GH. In this study, we thereby considered an association between FA and Laron syndrome (LS) (insulin-like growth factor 1 [IGF-1] deficiency).
PMID
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Authors

Mayor MeshTerms
Keywords

Developmental disorders

Endocrine disorders

Fanconi anemia

IGF-1

Laron syndrome

Journal Title the american journal of the medical sciences
Publication Year Start




PMID- 28502327
OWN - NLM
STAT- MEDLINE
DA  - 20170515
DCOM- 20170615
LR  - 20170615
IS  - 1538-2990 (Electronic)
IS  - 0002-9629 (Linking)
VI  - 353
IP  - 5
DP  - 2017 May
TI  - Fanconi Anemia and Laron Syndrome.
PG  - 425-432
LID - S0002-9629(17)30065-4 [pii]
LID - 10.1016/j.amjms.2017.02.001 [doi]
AB  - BACKGROUND: Fanconi anemia (FA) is a condition characterized by genetic
      instability and short stature, which is due to growth hormone (GH) deficiency in 
      most cases. However, no apparent relationships have been identified between FA
      complementation group genes and GH. In this study, we thereby considered an
      association between FA and Laron syndrome (LS) (insulin-like growth factor 1
      [IGF-1] deficiency). METHODS: A 21-year-old female Mexican patient with a genetic
      diagnosis of FA was referred to our research department for an evaluation of her 
      short stature. Upon admission to our facility, her phenotype led to a suspicion
      of LS; accordingly, serum levels of IGF-1 and IGF binding protein 3 were analyzed
      and a GH stimulation test was performed. In addition, we used a next-generation
      sequencing approach for a molecular evaluation of FA disease-causing mutations
      and genes involved in the GH-IGF signaling pathway. RESULTS: Tests revealed low
      levels of IGF-1 and IGF binding protein 3 that remained within normal ranges, as 
      well as a lack of response to GH stimulation. Sequencing confirmed a defect in
      the GH receptor signaling pathway. CONCLUSIONS: To the best of our knowledge,
      this study is the first to suggest an association between FA and LS. We propose
      that IGF-1 administration might improve some FA complications and functions based
      upon IGF-1 beneficial actions observed in animal, cell and indirect clinical
      models: erythropoiesis modulation, immune function improvement and metabolic
      regulation.
CI  - Copyright (c) 2017 The Authors. Published by Elsevier Inc. All rights reserved.
FAU - Castilla-Cortazar, Inma
AU  - Castilla-Cortazar I
AD  - Escuela de Medicina, Tecnologico de Monterrey, Monterrey, Nuevo Leon, Mexico;
      Fundacion de Investigacion HM Hospitales, Madrid, Spain. Electronic address:
      [email protected]
FAU - de Ita, Julieta Rodriguez
AU  - de Ita JR
AD  - Escuela de Medicina, Tecnologico de Monterrey, Monterrey, Nuevo Leon, Mexico.
FAU - Aguirre, Gabriel Amador
AU  - Aguirre GA
AD  - Escuela de Medicina, Tecnologico de Monterrey, Monterrey, Nuevo Leon, Mexico.
FAU - Castorena-Torres, Fabiola
AU  - Castorena-Torres F
AD  - Escuela de Medicina, Tecnologico de Monterrey, Monterrey, Nuevo Leon, Mexico.
FAU - Ortiz-Urbina, Jesus
AU  - Ortiz-Urbina J
AD  - Escuela de Medicina, Tecnologico de Monterrey, Monterrey, Nuevo Leon, Mexico.
FAU - Garcia-Magarino, Mariano
AU  - Garcia-Magarino M
AD  - Escuela de Medicina, Tecnologico de Monterrey, Monterrey, Nuevo Leon, Mexico.
FAU - de la Garza, Rocio Garcia
AU  - de la Garza RG
AD  - Escuela de Medicina, Tecnologico de Monterrey, Monterrey, Nuevo Leon, Mexico.
FAU - Diaz Olachea, Carlos
AU  - Diaz Olachea C
AD  - Escuela de Medicina, Tecnologico de Monterrey, Monterrey, Nuevo Leon, Mexico.
FAU - Elizondo Leal, Martha Irma
AU  - Elizondo Leal MI
AD  - Escuela de Medicina, Tecnologico de Monterrey, Monterrey, Nuevo Leon, Mexico.
LA  - eng
PT  - Case Reports
PT  - Journal Article
DEP - 20170204
PL  - United States
TA  - Am J Med Sci
JT  - The American journal of the medical sciences
JID - 0370506
RN  - 0 (IGF1 protein, human)
RN  - 0 (IGFBP3 protein, human)
RN  - 0 (Insulin-Like Growth Factor Binding Protein 3)
RN  - 0 (Receptors, Somatotropin)
RN  - 12629-01-5 (Human Growth Hormone)
RN  - 67763-96-6 (Insulin-Like Growth Factor I)
SB  - AIM
SB  - IM
MH  - Body Height
MH  - Fanconi Anemia/*complications/*genetics
MH  - Female
MH  - Human Growth Hormone/blood
MH  - Humans
MH  - Insulin-Like Growth Factor Binding Protein 3/blood
MH  - Insulin-Like Growth Factor I/metabolism
MH  - Laron Syndrome/*complications/*genetics/pathology
MH  - Mexico
MH  - Receptors, Somatotropin/blood
MH  - Signal Transduction
MH  - Young Adult
OTO - NOTNLM
OT  - Developmental disorders
OT  - Endocrine disorders
OT  - Fanconi anemia
OT  - IGF-1
OT  - Laron syndrome
EDAT- 2017/05/16 06:00
MHDA- 2017/06/16 06:00
CRDT- 2017/05/16 06:00
PHST- 2016/06/06 [received]
PHST- 2017/02/02 [revised]
PHST- 2017/02/02 [accepted]
AID - S0002-9629(17)30065-4 [pii]
AID - 10.1016/j.amjms.2017.02.001 [doi]
PST - ppublish
SO  - Am J Med Sci. 2017 May;353(5):425-432. doi: 10.1016/j.amjms.2017.02.001. Epub
      2017 Feb 4.