[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
K-I Tatsumi K Miayi T Notomi K Kaibe N Amino Y Mizuno Cretinism with combined hormone deficiency caused by a mutation in the PIT-1 gene Nat Genet 1 1992 56 58
K Ohta Y Nobukuni H Mitsubuchi S Fujimoto N Matsuo H Inagaki Mutations in the Pit-1 gene in children with combined pituitary hormone deficiency Biochem Biophys Res Commun 189 1992 851 855
RW Pfäffle GE DiMattia JS Parks MR Brown JM Wit M Jansen Mutation in the POU-specific domain of Pit-1 and hypopituitarism without pituitary hypoplasia Science 257 1992 1118 1121
S Radovick M Nations Y Du LA Berg BD Weintraub FE Wondisford A mutation in the POU-homeodomain of Pit-1 responsible for combined pituitary hormone deficiency Science 257 1992 1115 1118
N Okamoto Y Wada S Ida R Koga K Ozono H-A Chiyo Monoallelic expression of normal mRNA in the Pit-1 mutation heterozygotes with normal phenotype and biallelic expression in the abnormal phenotype Hum Mol Genet 3 1994 1565 1568
F de Zegher F Pernasetti C Vanhole H Devlieger G van den Berghe JA Martial The prenatal role of thyroid hormone evidenced by fetomaternal Pit-1 deficiency J Clin Endocrinol Metab 80 1995 3127 3130
Y Irie K-I Tatsumi M Ogawa T Kamijo C Preeyasombat C Suprasongsin A novel E250X mutation in the Pit-1 gene in a patient with combined pituitary hormone deficiency Endocr J 42 1995 351 354
LE Cohen FE Wondisford A Salvatoni M Maghnie F Brucker-Davis BD Weintraub A “hot spot” in the Pit-1 gene responsible for combined pituitary hormone deficiency: clinical and molecular correlates J Clin Endocrinol Metab 80 1995 679 684
RW Pfäffle B Otten U Eiholzer C Kim O Blankenstein A genetic cause of familial and sporadic cases with combined pituitary hormone deficiencies for GH, PRL and TSH [abstract] Hormone Res 44 1995 9
Y Irie K-I Tatsumi S Kusuda H Kawawaki SC Boyages O Nose Screening for PIT-1 abnormality by PCR direct sequencing method Thyroid 5 1995 207 211
I Pellegrini-Bouiller P Bélicar A Barlier G Gunz J-P Charvet P Jaquet A new mutation of the gene encoding the transcription factor Pit-1 is responsible for combined pituitary hormone deficiency J Clin Endocrinol Metab 81 1996 2790 2796
M Bodner JL Castrillo LE Theill T Derink M Ellismann M Karin The pituitary-specific transcription factor GHF-1 is a homeobox-containing protein Cell 55 1988 267 275
M Argyropoulou F Perignon F Brunelle R Brauner R Rappaport Height of normal pituitary gland as a function of age evaluated by magnetic resonance imaging in children Pediatr Radiol 21 1991 247 249
T Francis Studies on hereditary dwarfism in mice. VI. Anatomy, histology and development of the pituitary Acta Path Microbiol Scand 21 1944 928 944
