Pit-1 mutation and lipoedema in a family

Experimental and Clinical Endocrinology and Diabetes

Volumn 118, Issue 6, 2010, Pages 377-380

  Bano, G ^a   Mansour, S ^a   Brice, G ^a   Ostergaard, P ^a   Mortimer, P S ^a   Jeffery, S ^a   Nussey, S ^a  

^a ST GEORGE'S UNIVERSITY OF LONDON   (United Kingdom)

Author keywords

Estrogens; Hypopituitarism; Leptin; Obesity

Indexed keywords

RECOMBINANT GROWTH HORMONE; THYROXINE; TRANSCRIPTION FACTOR PIT 1; HUMAN GROWTH HORMONE; POU1F1 PROTEIN, HUMAN;

ADULT; ARTICLE; CASE REPORT; ENDOCRINE DISEASE; EXON; FAMILY HISTORY; GENE MUTATION; GROWTH HORMONE DEFICIENCY; HUMAN; HYPOPHYSIS DISEASE; HYPOPROLACTINEMIA; HYPOTHYROIDISM; LABORATORY TEST; LIPIDOSIS; LIPOEDEMA; MALE; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PRIORITY JOURNAL; PUBERTY; DEFICIENCY; FEMALE; GENETICS; HYPERLIPIDEMIA; MUTATION; PEDIGREE; SINGLE NUCLEOTIDE POLYMORPHISM; YOUNG ADULT;

FEMALE; HUMAN GROWTH HORMONE; HUMANS; HYPERLIPIDEMIAS; HYPOTHYROIDISM; MALE; MUTATION; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; TRANSCRIPTION FACTOR PIT-1; YOUNG ADULT;

EID: 77953659390     PISSN: 09477349     EISSN: 14393646     Source Type: Journal    
DOI: 10.1055/s-0029-1224154     Document Type: Article

References (16)

1. Hines EA, Allen EV. Lipoedema of the legs: A syndrome characterised by fat legs and orthostatic edema. Proceedings of the Staff Meetings of the Mayo Clinic 1940 15 184-187
2. Harwood CA, Bull RH, Evans J et al. Lymphatic and venous function in lipoedema. Br J Dermatol 1996 134 1-6
3. Fofanova OV, Takamura N, Kinoshita E et l. Rarity of PIT1 involvement in children from Russia with combined pituitary hormone deficiency. Am J Med Genet 1998 77 360-365 (Pubitemid 28283681)
4. Bastard JP, Pieroni L. Plasma plasminogen activator inhibitor 1, insulin resistance and android obesity. Biomedicine and Pharmacotherapy 1999 53 455-460
5. Ohta K, Nobukuni Y, Mitsubuchi H et al. Mutations in the Pit-1 gene in children with combined pituitary hormone deficiency. Biochem Biophys Res Commun 1992 189 851-855
6. Quentien MH, Barlier A, Franc JL et al. Pituitary transcription factors: from congenital deficiencies to gene therapy. J Neuroendocrinol 2006 18 633-642
7. Rudkin GH, Miller TA. Lipedema: A clinical entity distinct from lymphedema, Plast Reconstr. Surg 1994 94 841-847
8. Schmeller W, Meier-Vollrath I. Tumescent liposuction: a new and successful therapy for lipedema. J Cutan Med Surg 2006 10 7-10
9. Mauras N, OBrien KO, Welch S et al. Insulin-like growth factor 1 and growth hormone (GH) treatment in GH-deficient humans: Differential effects on protein, glucose, lipid, and calcium metabolism. J Clin Endocrinol Metab 2002 85 1686-1629
10. Moran A, Jacobs DR Jr, Steinberger J et al. Insulin resistance during puberty: results from clamp studies in 357 children. Diabetes 1999 48 2039-2044
11. Roemmich JN, Rogol AD. Evidence supporting an adipose leptin GHaxis in obesity-related hyposomatotropism. Endocrinologist 1999 9 424-430
12. Fors H, Matsuoka H, Boseous I. Serum leptin levels correlated with GH secretion and body fat in children. J Clin Endocrinol Metab 1999 84 586-3590
13. Span JP, Pieters GF, Sweep CG et al. Gender difference in insulin-like growth factor I response to growth hormone (GH) treatment in GH-deficient adults: role of sex hormone replacement. J Clin Endocrinol Metab 2000 85 1121-1125
14. Meinhardt UJ, Ho KK. Regulation of growth hormone action by gonadal steroids. Endocrinol Metab Clin North Am 2007 36 57-73
15. Földi E, Földi M. Lipedema. In Textbook of lymphology edited by M. Földi, E. F ldi and S. Kubik, pp. Germany Urban and Fischer 2003 395-403
16. Macdonald JM, Sims N, Mayrovitz N. Lymphedema, lipedema, and the open wound: The role of compression therapy. Surg Clin North Am 2003 83 639-658