Panhypopituitarism presenting as life-threatening heart failure caused by an inherited microdeletion in 1q25 including LHX4

Pediatrics

Volumn 129, Issue 2, 2012, Pages

  Filges, Isabel ^a   Bischof Renner, Andrea ^a   Röthlisberger, Benno ^b   Potthoff, Christian ^a   Glanzmann, René ^a   Günthard, Joëlle ^a   Schneider, Jacques ^a   Huber, Andreas R ^b   Zumsteg, Urs ^a   Miny, Peter ^a   Szinnai, Gabor ^a  

^a UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^b CANTONAL HOSPITAL AARAU   (Switzerland)

Author keywords

1q25; CPHD; Heart failure; LHX4; Microdeletion; Neonate; Panhypopituitarism

Indexed keywords

BRAIN NATRIURETIC PEPTIDE; DOBUTAMINE; HOMEODOMAIN PROTEIN; HYDROCORTISONE; LEVOTHYROXINE; MILRINONE; THYROID HORMONE; TRANSCRIPTION FACTOR LHX4; UNCLASSIFIED DRUG;

ADULT RESPIRATORY DISTRESS SYNDROME; ARTICLE; CARDIOPULMONARY HEMODYNAMICS; CASE REPORT; CLINICAL FEATURE; ECHOCARDIOGRAPHY; FEMALE; GENE DELETION; GENE PRODUCT; HEART ATRIUM SEPTUM DEFECT; HEART FAILURE; HUMAN; HYPOGLYCEMIA; HYPOPITUITARISM; HYPOTENSION; INFANT; LHX4 GENE; NAIL HYPOPLASIA; NUCLEAR MAGNETIC RESONANCE IMAGING; OUTCOME ASSESSMENT; PATENT DUCTUS ARTERIOSUS; PRIORITY JOURNAL; SHORT NOSE;

ALLELES; CHROMOSOME ABERRATIONS; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 1; DRUG THERAPY, COMBINATION; FEMALE; HEART FAILURE; HORMONE REPLACEMENT THERAPY; HUMAN GROWTH HORMONE; HUMANS; HYDROCORTISONE; HYPOPITUITARISM; INFANT; INFANT, NEWBORN; LIM-HOMEODOMAIN PROTEINS; MAGNETIC RESONANCE IMAGING; NERVOUS SYSTEM MALFORMATIONS; PENETRANCE; PHENOTYPE; PITUITARY GLAND; THYROXINE; TRANSCRIPTION FACTORS;

EID: 84856531407     PISSN: 00314005     EISSN: 10984275     Source Type: Journal    
DOI: 10.1542/peds.2010-3849     Document Type: Article

References (35)

1. Alatzoglou KS, Dattani MT. Genetic forms of hypopituitarism and their manifestation in the neonatal period. Early Hum Dev. 2009;85(11):705-712
2. Scommegna S, Galeazzi D, Picone S, et al. Neonatal identification of pituitary aplasia: a life-saving diagnosis. Review of five cases. Horm Res. 2004;62(1):10-16 (Pubitemid 38916103)
3. Vallette-Kasic S, Brue T, Pulichino AM, et al. Congenital isolated adrenocorticotropin deficiency: an underestimated cause of neonatal death, explained by TPIT gene mutations. J Clin Endocrinol Metab. 2005;90(3):1323-1331 (Pubitemid 40463983)
4. Sobrier ML, Maghnie M, Vié-Luton MP, et al. Novel HESX1 mutations associated with a life-threatening neonatal phenotype, pituitary aplasia, but normally located posterior pituitary and no optic nerve abnormalities. J Clin Endocrinol Metab. 2006;91(11):4528-4536 (Pubitemid 44833435)
5. Mehta A, Dattani MT. Developmental disorders of the hypothalamus and pituitary gland associated with congenital hypopituitarism. Best Pract Res Clin Endocrinol Metab. 2008;22(1):191-206 (Pubitemid 351218273)
6. Kelberman D, Dattani MT. The role of transcription factors implicated in anterior pituitary development in the aetiology of congenital hypopituitarism. Ann Med. 2006;38(8):560-577 (Pubitemid 46292020)
7. Zhu X, Gleiberman AS, Rosenfeld MG. Molecular physiology of pituitary development: signaling and transcriptional networks. Physiol Rev. 2007;87(3):933-963 (Pubitemid 47084673)
8. Reynaud R, Gueydan M, Saveanu A, et al. Genetic screening of combined pituitary hormone deficiency: experience in 195 patients. J Clin Endocrinol Metab. 2006;91(9):3329-3336 (Pubitemid 44402099)
9. de Graaff LC, Argente J, Veenma DC, Drent ML, Uitterlinden AG, Hokken-Koelega AC. PROP1, HESX1, POU1F1, LHX3 and LHX4 mutation and deletion screening and GH1 P89L and IVS3+1/+2 mutation screening in a Dutch nationwide cohort of patients with combined pituitary hormone deficiency. Horm Res Paediatr. 2010;73(5):363-371
10. Dateki S, Fukami M, Uematsu A, et al. Mutation and gene copy number analyses of six pituitary transcription factor genes in 71 patients with combined pituitary hormone deficiency: identification of a single patient with LHX4 deletion. J Clin Endocrinol Metab. 2010;95(8):4043-4047
11. Sobrier ML, Attié-Bitach T, Netchine I, Encha-Razavi F, Vekemans M, Amselem S. Pathophysiology of syndromic combined pituitary hormone deficiency due to a LHX3 defect in light of LHX3 and LHX4 expression during early human development. Gene Expr Patterns. 2004;5(2):279-284 (Pubitemid 39618939)
12. Pfaeffle RW, Hunter CS, Savage JJ, et al. Three novel missense mutations within the LHX4 gene are associated with variable pituitary hormone deficiencies. J Clin Endocrinol Metab. 2008;93(3):1062-1071 (Pubitemid 351398593)
13. Tajima T, Hattori T, Nakajima T, Okuhara K, Tsubaki J, Fujieda K. A novel missense mutation (P366T) of the LHX4 gene causes severe combined pituitary hormone deficiency with pituitary hypoplasia, ectopic posterior lobe and a poorly developed sella turcica. Endocr J. 2007;54(4):637-641 (Pubitemid 47414615)
14. Machinis K, Pantel J, Netchine I, et al. Syndromic short stature in patients with a germline mutation in the LIM homeobox LHX4. Am J Hum Genet. 2001;69(5):961-968 (Pubitemid 33015811)
15. Machinis K, Amselem S. Functional relationship between LHX4 and POU1F1 in light of the LHX4 mutation identified in patients with pituitary defects. J Clin Endocrinol Metab. 2005;90(9):5456-5462 (Pubitemid 41262315)
16. Tajima T, Yorifuji T, Ishizu K, Fujieda K. A novel mutation (V101A) of the LHX4 gene in a Japanese patient with combined pituitary hormone deficiency. Exp Clin Endocrinol Diabetes. 2010;118(7):405-409
17. Castinetti F, Saveanu A, Reynaud R, et al. A novel dysfunctional LHX4 mutation with high phenotypical variability in patients with hypopituitarism. J Clin Endocrinol Metab. 2008;93(7):2790-2799 (Pubitemid 352008553)
18. Lu XY, Phung MT, Shaw CA, et al. Genomic imbalances in neonates with birth defects: high detection rates by using chromosomal microarray analysis. Pediatrics. 2008;122(6):1310-1318
19. Koivisto M, Akerblom HK, Remes M, de La Chapelle A. Primary hypothyroidism, growth hormone deficiency and congenital malformations in a child with the karyotype 46,XY, del(1)(q25q32). Acta Paediatr Scand. 1976;65(4):513-518
20. Leichtman LG, Strum D, Brothman AR. Multiple craniofacial anomalies associated with an interstitial deletion of chromosome 1(q21->q25). Am J Med Genet. 1993;45(6):677-678 (Pubitemid 23077316)
21. Maggio MC, Iachininoto R, Arena V, Liotta A. Interstitial deletion of the long arm of chromosome 1 (1q 25-32). Clinical and endocrine features with a long term follow-up. Minerva Pediatr. 2003;55(1):55-61 (Pubitemid 36565008)
22. Descartes M, Hain JZ, Conklin M, et al. Molecular characterization of a patient with an interstitial 1q deletion [del(1)(q24.1q25.3)] and distinctive skeletal abnormalities. Am J Med Genet A. 2008;146A(22):2937-2943
23. Shah AN, Dubrey SW, Thomas D. Hypothyroid cardiomyopathy due to hypopituitarism: a diagnostic dilemma. Clin Med. 2007;7(6):639-640 (Pubitemid 350260095)
24. Pérez-Berbel P, Climent VE, Picó A, Marín F. Short- and long-term effects of growth hormone on the heart. Int J Cardiol. 2008;124(3):393-394 (Pubitemid 351305373)
25. Minczykowski A, Gryczynska M, Ziemnicka K, Czepczynski R, Sowinski J, Wysocki H. The influence of growth hormone (GH) therapy on cardiac performance in patients with childhood onset GH deficiency. Growth Horm IGF Res. 2005;15(2):156-164 (Pubitemid 40443817)
26. Minczykowski A, Gryczynska M, Ziemnicka K, Sowinski J, Wysocki H. The influence of growth hormone therapy on ultrasound myocardial tissue characterization in patients with childhood onset GH deficiency. Int J Cardiol. 2005;101(2):257-263 (Pubitemid 40637622)
27. Meyers DE, Cuneo RC. Controversies regarding the effects of growth hormone on the heart. Mayo Clin Proc. 2003;78(12):1521-1526 (Pubitemid 37475635)
28. Cohen LE, Radovick S. Molecular basis of combined pituitary hormone deficiencies. Endocr Rev. 2002;23(4):431-442 (Pubitemid 34925640)
29. Kelberman D, Rizzoti K, Lovell-Badge R, Robinson IC, Dattani MT. Genetic regulation of pituitary gland development in human and mouse. Endocr Rev. 2009;30(7):790-829
30. Dateki S, Kosaka K, Hasegawa K, et al. Heterozygous orthodenticle homeobox 2 mutations are associated with variable pituitary phenotype. J Clin Endocrinol Metab. 2010;95(2):756-764
31. Lee C, Iafrate AJ, Brothman AR. Copy number variations and clinical cytogenetic diagnosis of constitutional disorders. Nat Genet. 2007;39(suppl 7):S48-S54 (Pubitemid 47014476)
32. Rodriguez-Revenga L, Mila M, Rosenberg C, Lamb A, Lee C. Structural variation in the human genome: the impact of copy number variants on clinical diagnosis. Genet Med. 2007;9(9):600-606 (Pubitemid 47415269)
33. Brunetti-Pierri N, Berg JS, Scaglia F, et al. Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities. Nat Genet. 2008;40(12):1466-1471
34. van Bon BW, Mefford HC, Menten B, et al. Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome. J Med Genet. 2009;46(8):511-523
35. Mefford HC, Sharp AJ, Baker C, et al. Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. N Engl J Med. 2008;359(16):1685-1699