Isolated cushing's syndrome: An unusual presentation of Mc cune-Albright Syndrome in the neonatal period

Hormone Research

Volumn 72, Issue 5, 2009, Pages 315-319

  Paris, Françoise ^a,b   Philibert, Pascal ^b   Lumbroso, Serge ^b   Servant, Nadège ^b   Kalfa, Nicolas ^b   Sultan, Charles ^a,b  

^a HÔPITAL ARNAUD DE VILLENEUVE   (France)

^b LAPEYRONIE HOSPITAL   (France)

Author keywords

Hypercorticism; McCune Albright syndrome; Newborn

Indexed keywords

CORTICOTROPIN;

ADRENAL CELL; ADRENAL HYPERPLASIA; ADRENAL TUMOR; ALBRIGHT SYNDROME; ARTICLE; CASE REPORT; CUSHING SYNDROME; FEMALE; GENE MUTATION; GROWTH RETARDATION; HUMAN; HYPERADRENOCORTICISM; INFANT; MOON FACE; MUSCLE HYPOTONIA; NUCLEAR MAGNETIC RESONANCE IMAGING; PERIPHERAL EDEMA; PRIORITY JOURNAL;

BASE SEQUENCE; CUSHING SYNDROME; DIAGNOSIS, DIFFERENTIAL; DNA MUTATIONAL ANALYSIS; FEMALE; FIBROUS DYSPLASIA, POLYOSTOTIC; GROWTH DISORDERS; GTP-BINDING PROTEIN ALPHA SUBUNITS, GS; HUMANS; INFANT; INFANT, NEWBORN; NEONATAL SCREENING;

EID: 70350338057     PISSN: 03010163     EISSN: None     Source Type: Journal    
DOI: 10.1159/000245934     Document Type: Article

References (26)

1. Storr HL, Chan LF, Grossman AB, Savage MO: Paediatric Cushing's syndrome: Epidemiology, investigation and therapeutic advances. Trends Endocrinol Metab 2007; 18: 167-174.
2. Weber A, Trainer PJ, Grossman AB, Afshar F, Medbak S, Perry LA, Plowman PN, Rees LH, Besser GM, Savage MO: Investigation, management and therapeutic outcome in 12 cases of childhood and adolescent Cushing's syndrome. Clin Endocrinol (Oxf) 1995; 43: 19-28.
3. Magiakou MA, Chrousos GP: Cushing's syndrome in children and adolescents: Current diagnostic and therapeutic strategies. J Endocrinol Invest 2002; 25: 181-194.
4. Stratakis CA, Kirschner LS, Carney JA: Clinical and molecular features of the Carney complex: Diagnostic criteria and recommendations for patient evaluation. J Clin Endocrinol Metab 2001; 86: 4041-4046.
5. Stratakis CA: Adrenocortical tumors, primary pigmented adrenocortical disease (PPNAD)/ Carney complex, and other bilateral hyperplasias: The NIH studies. Horm Metab Res 2007; 39: 467-473.
6. Rockall AG, Babar SA, Sohaib SA, Isidori AM, Diaz-Cano S, Monson JP, Grossman AB, Reznek RH: CT and MR imaging of the adrenal glands in ACTH-independent cushing syndrome. Radiographics 2004; 24: 435-452.
7. Mayer SK, Oligny LL, Deal C, Yazbeck S, Gagne N, Blanchard H: Childhood adrenocortical tumors: Case series and reevaluation of prognosis: A 24-year experience. J Pediatr Surg 1997; 32: 911-915.
8. Stratakis CA, Kirschner LS: Clinical and genetic analysis of primary bilateral adrenal diseases (micro- and macronodular disease) leading to Cushing syndrome. Horm Metab Res 1998; 30: 456-463.
9. McCune D: Osteitis fibrosa cystica: The case of a nine year old girl who also exhibits precocious puberty, multiple pigmentation of the skin and hyperthyroidism. Am J Dis Childh 1936: 743-744.
10. Albright F, Butler AM, Hampton AO, Smith P: Syndrome characterized by osteitis fibrosa disseminata, areas of pigmentation and endocrine dysfunction, with precocious puberty in females: Report of five cases. N Engl J Med 1937: 727-746.
11. Benjamin DR, McRoberts JW: Polyostotic fibrous dysplasia associated with Cushing syndrome. Arch Pathol 1973; 96: 175-178.
12. Danon M, Robboy SJ, Kim S, Scully R, Crawford JD: Cushing syndrome, sexual precocity, and polyostotic fibrous dysplasia (Albright syndrome) in infancy. J Pediatr 1975; 87: 917-921.
13. Mauras N, Blizzard RM: The McCune-Albright syndrome. Acta Endocrinol Suppl (Copenh) 1986; 279: 207-217.
14. Weinstein LS, Shenker A, Gejman PV, Merino MJ, Friedman E, Spiegel AM: Activating mutations of the stimulatory G protein in the McCune-Albright syndrome. N Engl J Med 1991; 325: 1688-1695.
15. Yoshimoto M, Nakayama M, Baba T, Uehara Y, Niikawa N, Ito M, Tsuji Y: A case of neonatal McCune-Albright syndrome with Cushing syndrome and hyperthyroidism. Acta Paediatr Scand 1991; 80: 984-987.
16. Shenker A, Weinstein LS, Moran A, Pescovitz OH, Charest NJ, Boney CM, Van Wyk JJ, Merino MJ, Feuillan PP, Spiegel AM: Severe endocrine and nonendocrine manifestations of the McCune-Albright syndrome associated with activating mutations of stimulatory G protein GS. J Pediatr 1993; 123: 509-518.
17. Boston BA, Mandel S, LaFranchi S, Bliziotes M: Activating mutation in the stimulatory guanine nucleotide-binding protein in an infant with Cushing's syndrome and nodular adrenal hyperplasia. J Clin Endocrinol Metab 1994; 79: 890-893.
18. Bareille P, Azcona C, Stanhope R: Multiple neonatal endocrinopathies in McCune-Albright syndrome. J Paediatr Child Health 1999; 35: 315-318.
19. Kirk JM, Brain CE, Carson DJ, Hyde JC, Grant DB: Cushing's syndrome caused by nodular adrenal hyperplasia in children with McCune-Albright syndrome. J Pediatr 1999; 134: 789-792.
20. Halioui-Louhaichi S, Azzabi O, Nefzi L, Ben Hariz M, Ben Mrad N, Ben Ammar B, Maherzi A: Treatment with metyrapone of Cushing's syndrome revealing McCune-Albright syndrome. Arch Pediatr 2005; 12: 1120-1123.
21. Sherman SI, Ladenson PW: Octreotide therapy of growth hormone excess in the McCune- Albright syndrome. J Endocrinol Invest 1992; 15: 185-190.
22. Akintoye SO, Chebli C, Booher S, Feuillan P, Kushner H, Leroith D, Cherman N, Bianco P, Wientroub S, Robey PG, Collins MT: Characterization of gsp-mediated growth hormone excess in the context of McCune-Albright syndrome. J Clin Endocrinol Metab 2002; 87: 5104-5112.
23. Mastorakos G, Mitsiades NS, Doufas AG, Koutras DA: Hyperthyroidism in McCune- Albright syndrome with a review of thyroid abnormalities sixty years after the first report. Thyroid 1997; 7: 433-439.
24. Lumbroso S, Paris F, Sultan C: Activating Gsalpha mutations: Analysis of 113 patients with signs of McCune-Albright syndrome - a European Collaborative Study. J Clin Endocrinol Metab 2004; 89: 2107-2113.
25. Diaz A, Danon M, Crawford J: McCune-Albright syndrome and disorders due to activating mutations of GNAS1. J Pediatr Endocrinol Metab 2007; 20: 853-880.
26. Dumitrescu CE, Collins MT: McCune-Albright syndrome. Orphanet J Rare Dis 2008; 3: 12.