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

Ward, L.; Chavez, M.; Huot, C.; Lecocq, P.; Collu, R.; Decarie, J. C.; Martial, Joseph; Van Vliet, G.

doi:10.1016/S0022-3476(98)70405-6

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Article (Scientific journals)

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

Ward, L.; Chavez, M.; Huot, C. et al.

1998 • In Journal of Pediatrics, 132 (6), p. 1036-8

Peer Reviewed verified by ORBi

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https://hdl.handle.net/2268/19829

DOI
10.1016/S0022-3476(98)70405-6

PubMed
9627600

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Keywords :

DNA-Binding Proteins/*genetics; Growth Disorders/*genetics; Homeodomain Proteins/*genetics; Human Growth Hormone/deficiency; Humans; Hypopituitarism/*congenital/*genetics; Infant; Male; Mutation; Pituitary Gland, Anterior/abnormalities/*anatomy & histology; Prolactin/*deficiency; Thyrotropin/deficiency; Transcription Factor Pit-1; Transcription Factors/*genetics

Abstract :

[en] 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.

Disciplines :

Biochemistry, biophysics & molecular biology

Author, co-author :

Ward, L.

Chavez, M.

Huot, C.

Lecocq, P.

Collu, R.

Decarie, J. C.

Martial, Joseph ; Université de Liège - ULiège > Département des sciences de la vie > GIGA-R : Biologie et génétique moléculaire

Van Vliet, G.

Language :

English

Title :

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

Publication date :

1998

Journal title :

Journal of Pediatrics

ISSN :

0022-3476

eISSN :

1097-6833

Publisher :

Mosby, St Louis, United States - Missouri

Volume :

132

Issue :

Pages :

1036-8

Peer reviewed :

Peer Reviewed verified by ORBi

Available on ORBi :

since 25 August 2009

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Bibliography

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