PMID- 26180530
OWN - NLM
STAT- PubMed-not-MEDLINE
DCOM- 20150716
LR  - 20200930
IS  - 1687-9848 (Print)
IS  - 1687-9856 (Electronic)
IS  - 1687-9848 (Linking)
VI  - 2015
IP  - 1
DP  - 2015
TI  - Treatment-resistant pediatric giant prolactinoma and multiple endocrine neoplasia 
      type 1.
PG  - 15
LID - 10.1186/s13633-015-0011-5 [doi]
LID - 15
AB  - BACKGROUND: Pediatric pituitary adenomas are rare, accounting for <3 % of all 
      childhood intracranial tumors, the majority of which are prolactinomas. 
      Consequently, they are often misdiagnosed as other suprasellar masses such as 
      craniopharyngiomas in this age group. Whilst guidelines exist for the treatment 
      of adult prolactinomas, the management of childhood presentations of these benign 
      tumors is less clear, particularly when dopamine agonist therapy fails. Given 
      their rarity, childhood-onset pituitary adenomas are more likely to be associated 
      with a variety of genetic syndromes, the commonest being multiple endocrine 
      neoplasia type 1 (MEN-1). CASE DESCRIPTION: We present a case of an early-onset, 
      treatment-resistant giant prolactinoma occurring in an 11-year-old peripubertal 
      boy that was initially sensitive, but subsequently highly resistant to dopamine 
      agonist therapy, ultimately requiring multiple surgical debulking procedures and 
      proton beam irradiation. Our patient is now left with long-term tumor- and 
      treatment-related neuroendocrine morbidities including blindness and 
      panhypopituitarism. Only after multiple consultations and clinical data gained 
      from 20-year-old medical records was a complex, intergenerationally 
      consanguineous family history revealed, compatible with MEN-1, with a splice site 
      mutation (c.784-9G > A) being eventually identified in intron 4 of the MEN1 gene, 
      potentially explaining the difficulties in management of this tumor. Genetic 
      counseling and screening has now been offered to the wider family. CONCLUSIONS: 
      This case emphasizes the need to consider pituitary adenomas in the differential 
      diagnosis of all pediatric suprasellar tumors by careful endocrine assessment and 
      measurement of at least a serum prolactin concentration. It also highlights the 
      lack of evidence for the optimal management of pediatric drug-resistant 
      prolactinomas. Finally, the case we describe demonstrates the importance of a 
      detailed family history and the role of genetic testing for MEN1 and AIP 
      mutations in all cases of pediatric pituitary adenoma.
FAU - Gan, Hoong-Wei
AU  - Gan HW
AD  - Section for Genetics and Epigenetics in Health and Disease, Genetics and Genomic 
      Medicine Programme, University College London Institute of Child Health, 30 
      Guilford Street, London, WC1N 1EH UK ; The London Centre for Pediatric 
      Endocrinology & Diabetes, Neuroendocrine Division, Great Ormond Street Hospital 
      for Children NHS Foundation Trust, Great Ormond Street, London, WC1N 3JH UK.
FAU - Bulwer, Chloe
AU  - Bulwer C
AD  - Section for Experimental & Personalized Medicine, Genetics & Genomic Medicine 
      Programme, University College London Institute of Child Health, 30 Guilford 
      Street, London, WC1N 1EH UK.
FAU - Jeelani, Owase
AU  - Jeelani O
AD  - Department of Neurosurgery, Great Ormond Street Hospital for Children NHS 
      Foundation Trust, Great Ormond Street, London, WC1N 3JH UK.
FAU - Levine, Michael Alan
AU  - Levine MA
AD  - Division of Endocrinology and Diabetes, The Children's Hospital of Philadelphia, 
      34th and Civic Center Boulevard, Philadelphia, PA 19104 USA ; Department of 
      Pediatrics, University of Pennsylvania Perelman School of Medicine, 34th and 
      Civic Center Boulevard, Philadelphia, PA 19104 USA.
FAU - Korbonits, Marta
AU  - Korbonits M
AD  - Centre for Endocrinology, Barts and the London School of Medicine & Dentistry, 
      Queen Mary University of London, Charterhouse Square, London, EC1M 6BQ UK.
FAU - Spoudeas, Helen Alexandra
AU  - Spoudeas HA
AD  - The London Centre for Pediatric Endocrinology & Diabetes, Neuroendocrine 
      Division, Great Ormond Street Hospital for Children NHS Foundation Trust, Great 
      Ormond Street, London, WC1N 3JH UK.
LA  - eng
PT  - Case Reports
DEP - 20150715
PL  - England
TA  - Int J Pediatr Endocrinol
JT  - International journal of pediatric endocrinology
JID - 101516111
PMC - PMC4503293
OTO - NOTNLM
OT  - Familial prolactinoma
OT  - Macroprolactinoma
OT  - Multiple endocrine neoplasia type 1
OT  - Pituitary neoplasms
OT  - Survivorship
EDAT- 2015/07/17 06:00
MHDA- 2015/07/17 06:01
PMCR- 2015/07/15
CRDT- 2015/07/17 06:00
PHST- 2015/05/02 00:00 [received]
PHST- 2015/06/30 00:00 [accepted]
PHST- 2015/07/17 06:00 [entrez]
PHST- 2015/07/17 06:00 [pubmed]
PHST- 2015/07/17 06:01 [medline]
PHST- 2015/07/15 00:00 [pmc-release]
AID - 11 [pii]
AID - 10.1186/s13633-015-0011-5 [doi]
PST - ppublish
SO  - Int J Pediatr Endocrinol. 2015;2015(1):15. doi: 10.1186/s13633-015-0011-5. Epub 
      2015 Jul 15.