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Prolactin deficiency with obesity and enlarged testes

MedGen UID:
341515
•Concept ID:
C1849698
•
Disease or Syndrome
Synonym: PRL DEFICIENCY WITH OBESITY AND ENLARGED TESTES
 
Monarch Initiative: MONDO:0009912
OMIM®: 264120

Clinical features

From HPO
Macroorchidism
MedGen UID:
224727
•Concept ID:
C1263023
•
Finding
The presence of abnormally large testes.
See: Feature record | Search on this feature
Obesity
MedGen UID:
18127
•Concept ID:
C0028754
•
Disease or Syndrome
Accumulation of substantial excess body fat.
See: Feature record | Search on this feature
Intellectual disability, borderline
MedGen UID:
507499
•Concept ID:
C0006009
•
Finding
Borderline intellectual disability is defined as an intelligence quotient (IQ) in the range of 70-85.
See: Feature record | Search on this feature
Isolated prolactin deficiency
MedGen UID:
75758
•Concept ID:
C0271586
•
Finding
A reduced level of prolactin in the blood circulation. Prolactin is a protein hormone that is secreted by lactotrophs in the anterior pituitary and that stimulates mammary gland development and milk production.
See: Feature record | Search on this feature
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Recent clinical studies

Diagnosis

The IGSF1 Deficiency Syndrome May Present with Normal Free T4 Levels, Severe Obesity, or Premature Testicular Growth.
Ghanny S, Zidell A, Pedro H, Joustra SD, Losekoot M, Wit JM, Aisenberg J
J Clin Res Pediatr Endocrinol 2021 Nov 25;13(4):461-467. Epub 2020 Oct 13 doi: 10.4274/jcrpe.galenos.2020.2020.0125. PMID: 33045800Free PMC Article

Clinical prediction guides

The IGSF1 Deficiency Syndrome May Present with Normal Free T4 Levels, Severe Obesity, or Premature Testicular Growth.
Ghanny S, Zidell A, Pedro H, Joustra SD, Losekoot M, Wit JM, Aisenberg J
J Clin Res Pediatr Endocrinol 2021 Nov 25;13(4):461-467. Epub 2020 Oct 13 doi: 10.4274/jcrpe.galenos.2020.2020.0125. PMID: 33045800Free PMC Article

Supplemental Content

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    Related information

    • MeSH
      Related Medical Subject Headings
    • OMIM
      Related records in OMIM
    • PubMed (OMIM)
      Related literature resources in PubMed

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