PMID- 36597712
OWN - NLM
STAT- MEDLINE
DCOM- 20230207
LR  - 20230207
IS  - 2191-0251 (Electronic)
IS  - 0334-018X (Linking)
VI  - 36
IP  - 2
DP  - 2023 Feb 23
TI  - Pediatric growth hormone and prolactin-secreting tumor associated with an AIP 
      mutation and a MEN1 variant of uncertain significance.
PG  - 199-202
LID - 10.1515/jpem-2022-0488 [doi]
AB  - OBJECTIVES: Pituitary gigantism is a rare condition and it often has an 
      identifiable genetic cause. In this article we report a case of a young girl with 
      pituitary gigantism and two genetic changes. CASE PRESENTATION: A 15-year-old 
      girl with primary amenorrhea was diagnosed with a growth hormone (GH) and 
      prolactin (PRL)-producing tumor, needing surgery and medical treatment with 
      octreotide in order to achieve disease control. The co-occurrence of 
      an AIP mutation and a MEN1 variant of uncertain significance was demonstrated in 
      this patient. The germline mutation involving AIP was inherited from her father 
      who at the age of 55 was unaffected and the MEN1 variant was a de 
      novo duplication of the region 11q13.1. The latter variant, not previously 
      reported, is unlikely to be pathogenic. Nonetheless, screening for other 
      components of multiple endocrine neoplasia type 1 (MEN1) was performed and proved 
      negative. CONCLUSIONS: The rare co-occurrence of an AIP mutation and a MEN 
      1 variant of uncertain significance was demonstrated in this patient.
CI  - (c) 2022 Walter de Gruyter GmbH, Berlin/Boston.
FAU - Alexandre, Maria Ines
AU  - Alexandre MI
AUID- ORCID: 0000-0002-3118-0134
AD  - Endocrinology Department, Hospital de Santa Maria, Centro Hospitalar 
      Universitario de Lisboa Norte, Lisbon, Portugal.
FAU - Faria, Claudia C
AU  - Faria CC
AD  - Neurosurgery Department, Hospital de Santa Maria, Centro Hospitalar Universitario 
      de Lisboa Norte, Lisbon, Portugal.
AD  - Faculdade de Medicina da Universidade de Lisboa, Lisbon, Portugal.
FAU - Gomes, Ana
AU  - Gomes A
AD  - Endocrinology Department, Hospital de Santa Maria, Centro Hospitalar 
      Universitario de Lisboa Norte, Lisbon, Portugal.
AD  - Faculdade de Medicina da Universidade de Lisboa, Lisbon, Portugal.
FAU - Bugalho, Maria Joao
AU  - Bugalho MJ
AD  - Endocrinology Department, Hospital de Santa Maria, Centro Hospitalar 
      Universitario de Lisboa Norte, Lisbon, Portugal.
AD  - Faculdade de Medicina da Universidade de Lisboa, Lisbon, Portugal.
LA  - eng
PT  - Case Reports
DEP - 20230105
PL  - Germany
TA  - J Pediatr Endocrinol Metab
JT  - Journal of pediatric endocrinology & metabolism : JPEM
JID - 9508900
RN  - 9002-72-6 (Growth Hormone)
RN  - 12629-01-5 (Human Growth Hormone)
RN  - 0 (Intracellular Signaling Peptides and Proteins)
RN  - 9002-62-4 (Prolactin)
SB  - IM
MH  - Adolescent
MH  - Female
MH  - Humans
MH  - Germ-Line Mutation
MH  - *Gigantism/etiology
MH  - Growth Hormone/genetics
MH  - *Human Growth Hormone/therapeutic use/genetics
MH  - Intracellular Signaling Peptides and Proteins/genetics
MH  - *Multiple Endocrine Neoplasia Type 1/complications/genetics
MH  - Mutation
MH  - *Pituitary Neoplasms/genetics/complications
MH  - Prolactin
OTO - NOTNLM
OT  - genetic testing
OT  - gigantism
OT  - growth hormone
EDAT- 2023/01/05 06:00
MHDA- 2023/02/04 06:00
CRDT- 2023/01/04 03:23
PHST- 2022/09/25 00:00 [received]
PHST- 2022/12/23 00:00 [accepted]
PHST- 2023/01/05 06:00 [pubmed]
PHST- 2023/02/04 06:00 [medline]
PHST- 2023/01/04 03:23 [entrez]
AID - jpem-2022-0488 [pii]
AID - 10.1515/jpem-2022-0488 [doi]
PST - epublish
SO  - J Pediatr Endocrinol Metab. 2023 Jan 5;36(2):199-202. doi: 
      10.1515/jpem-2022-0488. Print 2023 Feb 23.