Severe congenital hypopituitarism with low prolactin levels and age-dependent anterior pituitary hypoplasia: A clue to a PIT-1 mutation

A 20-month-old boy presented with severe congenital growth hormone, thyrotropin, and prolactin deficiencies resulting from a de novo mutation of the PIT-1 gene. This form of congenital hypopituitarism should be suspected if pituitary anatomy is normal, especially if prolactin levels are low and, in...

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Published inThe Journal of pediatrics Vol. 132; no. 6; pp. 1036 - 1038
Main Authors Ward, Leanne, Chavez, Marcela, Huot, Céline, Lecocq, Pierre, Collu, Robert, Décarie, Jean-Claude, Martial, Joseph A., Van Vliet, Guy
Format Journal Article Web Resource
LanguageEnglish
Published New York, NY Mosby, Inc 01.06.1998
Elsevier
Mosby
Subjects
Biochemistry, biophysics & molecular biology
Biochimie, biophysique & biologie moléculaire
Biological and medical sciences
DNA-Binding Proteins - genetics
Endocrinopathies
Growth Disorders - genetics
Homeodomain Proteins - genetics
Human Growth Hormone - deficiency
Humans
Hypopituitarism - congenital
Hypopituitarism - genetics
Hypopituitarism/congenital/genetics
Hypothalamus. Hypophysis. Epiphysis (diseases)
Infant
Life sciences
Male
Medical sciences
Mutation
Non tumoral diseases. Target tissue resistance. Benign neoplasms
Pituitary Gland, Anterior - abnormalities
Pituitary Gland, Anterior - anatomy & histology
Pituitary Gland, Anterior/abnormalities/anatomy & histology
Prolactin - deficiency
Sciences du vivant
Thyrotropin - deficiency
Transcription Factor Pit-1
Transcription Factors - genetics
TSH
GH
PRL
MRI
Endocrinopathy
Human
Hormone
Correlation
Congenital
Deficiency
Case study
Phenotype
Hypophyseal insufficiency
Prolactin
Pituitary diseases
Genetics
Mutation
Child
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Summary:A 20-month-old boy presented with severe congenital growth hormone, thyrotropin, and prolactin deficiencies resulting from a de novo mutation of the PIT-1 gene. This form of congenital hypopituitarism should be suspected if pituitary anatomy is normal, especially if prolactin levels are low and, in boys, if the external genitalia are normal. Pituitary atrophy appears to be an age-dependent phenomenon in this condition. (J Pediatr 1998;132:1036-8.)
Bibliography:ObjectType-Case Study-3
SourceType-Scholarly Journals-1
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ObjectType-Review-1
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ObjectType-Report-2
ObjectType-Article-4
scopus-id:2-s2.0-0031812218
ISSN:0022-3476
1097-6833
1097-6833
DOI:10.1016/S0022-3476(98)70405-6