Molecular diagnosis

Referring a case for diagnosis

Research

...still under construction...

A selection of publications from our research group:

1.	Wu W, Cogan JD, Pfäffle RW, Dasen JS, Frisch H, SM OC, et al. Mutations in PROP1 cause familial combined pituitary hormone deficiency. Nat Genet 1998;18(2):147-9.
2.	Pfäffle RW, DiMattia GE, Parks JS, Brown MR, Wit JM, Jansen M, et al. Mutation of the POU-specific domain of Pit-1 and hypopituitarism without pituitary hypoplasia. Science 1992;257(5073):1118-21.
3.	Pfäffle RW, Martinez R, Kim C, Frisch H, Lebl J, Otten B, et al. GH and TSH deficiency. Exp Clin Endocrinol Diabetes 1997;105 Suppl 4:1-5.
4.	Pfäffle RW, Kim C, Otten B, Wit JM, Eiholzer U, Heimann G, et al. Pit-1: clinical aspects. Horm Res 1996;45:25-28.
5.	Crone J, Pfäffle R, Stobbe H, Prayer D, Gomez I, Frisch H. Familial combined pituitary hormone deficiency caused by PROP-1 gene mutation. Growth patterns and MRI studies in untreated subjects. Horm Res 2002;57(3-4):120-6.
6.	Blankenstein O, Muhlenberg R, Kim C, Wuller S, Pfäffle R, Heimann G. A new C-terminal located mutation (V272ter) in the PIT-1 gene manifesting with severe congenital hypothyroidism. Possible functionality of the PIT-1 C-terminus. Horm Res 2001;56(3-4):81-6.
7.	Riepe FG, Partsch CJ, Blankenstein O, Monig H, Pfäffle RW, Sippell WG. Longitudinal imaging reveals pituitary enlargement preceding hypoplasia in two brothers with combined pituitary hormone deficiency attributable to PROP1 mutation. J Clin Endocrinol Metab 2001;86(9):4353-7.
8.	Pfäffle R, Blankenstein O, Wuller S, Heimann K, Heimann G. Idiopathic growth hormone deficiency: a vanishing diagnosis? Horm Res 2000;53 Suppl 3:1-8.
9.	Frisch H, Kim C, Hausler G, Pfäffle R. Combined pituitary hormone deficiency and pituitary hypoplasia due to a mutation of the Pit-1 gene. Clin Endocrinol (Oxf) 2000;52(5):661-5.
10.	Pfäffle RW, Blankenstein O, Wuller S, Kentrup H. Combined pituitary hormone deficiency: role of Pit-1 and Prop-1. Acta Paediatr Suppl 1999;88(433):33-41.
11.	Doeker BM, Pfäffle RW, Pohlenz J, Andler W. Congenital central hypothyroidism due to a homozygous mutation in the thyrotropin beta-subunit gene follows an autosomal recessive inheritance. J Clin Endocrinol Metab 1998;83(5):1762-5.
12.	Maintz D, Benz-Bohm G, Gindele A, Schonau E, Pfäffle R, Lackner K. Posterior pituitary ectopia: another hint toward a genetic etiology. AJNR Am J Neuroradiol 2000;21(6):1116-8.
13.	Holl RW, Pfäffle R, Kim C, Sorgo W, Teller WM, Heimann G. Combined pituitary deficiencies of growth hormone, thyroid stimulating hormone and prolactin due to Pit-1 gene mutation: a case report. Eur J Pediatr 1997;156(11):835-7.

Books

1.	R.Pfäffle, J.Weigel, A.Böttner. Regulation of pituitary development. Review. (2004) Download (pdf, 1,1 MB;only in German)
2.	R.Pfäffle and W.F.Blum. Understanding the genetics of growth hormone deficiency. (2000). TMG Healthcare Communications Ltd: 49-53.