PMID- 15588237
OWN - NLM
STAT- MEDLINE
DCOM- 20050207
LR  - 20190906
IS  - 0804-4643 (Print)
IS  - 0804-4643 (Linking)
VI  - 151
IP  - 6
DP  - 2004 Dec
TI  - Cushing's disease in childhood as the first manifestation of multiple endocrine 
      neoplasia syndrome type 1.
PG  - 709-15
AB  - OBJECTIVE: To describe three cases of Cushing's disease in children with multiple 
      endocrine neoplasia type 1 (MEN1), as clinical manifestations of MEN1 are very 
      rare in childhood. DESIGN AND METHODS: A retrospective review of three cases of 
      Cushing's disease diagnosed between 1997 and 1999. Genetic screening for MEN1 
      gene mutation was performed in each patient. RESULTS: An ACTH-secreting 
      microadenoma was diagnosed in three children, aged 11-13 years, presenting with 
      growth retardation and weight gain over a period of 3-4 years. All patients had 
      successful transsphenoidal adenomectomies. Primary hyperparathyroidism was 
      subsequently diagnosed in two of the patients, and in the monozygotic twin of one 
      of the patients. A new mutation in the MEN1 gene (Tyr351His) was identified in 
      two of the patients and the affected members of their families. In the third 
      patient a de novo MEN1 gene mutation (Leu444Pro) was found. CONCLUSIONS: MEN1 has 
      to be considered in all children with tumours of the pituitary gland, and in 
      those presenting with primary hyperparathyroidism. The children and their 
      families should be advised to seek genetic counselling. We suggest that careful 
      growth records be kept for children at risk of developing inherited MEN1 and, in 
      the event of a decelerating growth rate, further diagnostic evaluation be 
      undertaken with regards to ACTH-secreting pituitary tumours.
FAU - Rix, M
AU  - Rix M
AD  - Department of Paediatrics, Aalborg University Hospital, 9000 Aalborg, Denmark. 
      mariane.rix@dadlnet.dk
FAU - Hertel, N T
AU  - Hertel NT
FAU - Nielsen, F C
AU  - Nielsen FC
FAU - Jacobsen, B B
AU  - Jacobsen BB
FAU - Hoejberg, A S
AU  - Hoejberg AS
FAU - Brixen, K
AU  - Brixen K
FAU - Hangaard, J
AU  - Hangaard J
FAU - Kroustrup, J P
AU  - Kroustrup JP
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - England
TA  - Eur J Endocrinol
JT  - European journal of endocrinology
JID - 9423848
RN  - 0 (Glucocorticoids)
RN  - 7S5I7G3JQL (Dexamethasone)
RN  - 9002-60-2 (Adrenocorticotropic Hormone)
RN  - WI4X0X7BPJ (Hydrocortisone)
SB  - IM
MH  - Adenoma/complications/diagnostic imaging/surgery
MH  - Adolescent
MH  - Adrenocorticotropic Hormone/blood
MH  - Child
MH  - Cushing Syndrome/*etiology/genetics
MH  - DNA Mutational Analysis
MH  - Dexamethasone
MH  - Female
MH  - Glucocorticoids
MH  - Humans
MH  - Hydrocortisone/blood/urine
MH  - Hyperparathyroidism/complications
MH  - Magnetic Resonance Imaging
MH  - Male
MH  - Multiple Endocrine Neoplasia Type 1/diagnosis/*etiology/genetics
MH  - Obesity/drug therapy/etiology
MH  - Pituitary Neoplasms/complications/pathology/surgery
MH  - Radiography
MH  - Twins
EDAT- 2004/12/14 09:00
MHDA- 2005/02/08 09:00
CRDT- 2004/12/14 09:00
PHST- 2004/12/14 09:00 [pubmed]
PHST- 2005/02/08 09:00 [medline]
PHST- 2004/12/14 09:00 [entrez]
AID - 10.1530/eje.0.1510709 [doi]
PST - ppublish
SO  - Eur J Endocrinol. 2004 Dec;151(6):709-15. doi: 10.1530/eje.0.1510709.