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Panhypopituitarism, X-linked(PHPX)

MedGen UID:
87439
•Concept ID:
C0342376
•
Disease or Syndrome
Synonyms: PHPX; PITUITARY DWARFISM IV; Pituitary dwarfism IV (formerly)
SNOMED CT: Panhypopituitarism - X-linked (237683004); X-linked panhypopituitarism (237683004)
 
Gene (location): SOX3 (Xq27.1)
 
Monarch Initiative: MONDO:0010712
OMIM®: 312000

Clinical features

From HPO
Pituitary dwarfism
MedGen UID:
8506
•Concept ID:
C0013338
•
Disease or Syndrome
A type of reduced stature with normal proportions related to dysfunction of the pituitary gland related to either an isolated defect in the secretion of growth hormone or to panhypopituitarism, i.e., a deficit of all the anterior pituitary hormones.
See: Feature record | Search on this feature
Panhypopituitarism
MedGen UID:
69171
•Concept ID:
C0242343
•
Disease or Syndrome
A pituitary functional deficit affecting all the anterior pituitary hormones (growth hormone, thyroid-stimulating hormone, follicle-stimulating hormone, luteinizing hormone, adrenocorticotropic hormone, and prolactin).
See: Feature record | Search on this feature
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Recent clinical studies

Etiology

A novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113A.
Corbett MA, Dudding-Byth T, Crock PA, Botta E, Christie LM, Nardo T, Caligiuri G, Hobson L, Boyle J, Mansour A, Friend KL, Crawford J, Jackson G, Vandeleur L, Hackett A, Tarpey P, Stratton MR, Turner G, Gécz J, Field M
J Med Genet 2015 Apr;52(4):269-74. Epub 2015 Jan 22 doi: 10.1136/jmedgenet-2014-102418. PMID: 25612912
Over- and underdosage of SOX3 is associated with infundibular hypoplasia and hypopituitarism.
Woods KS, Cundall M, Turton J, Rizotti K, Mehta A, Palmer R, Wong J, Chong WK, Al-Zyoud M, El-Ali M, Otonkoski T, Martinez-Barbera JP, Thomas PQ, Robinson IC, Lovell-Badge R, Woodward KJ, Dattani MT
Am J Hum Genet 2005 May;76(5):833-49. Epub 2005 Mar 30 doi: 10.1086/430134. PMID: 15800844Free PMC Article

Diagnosis

Clinical and molecular analyses of isolated central congenital hypothyroidism based on a survey conducted in Japan.
Shibata N, Numakura C, Hamajima T, Miyako K, Fujiwara I, Mori J, Saitoh A, Nagasaki K
Endocr J 2024 May 23;71(5):471-480. Epub 2024 Mar 8 doi: 10.1507/endocrj.EJ23-0391. PMID: 38462462
A novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113A.
Corbett MA, Dudding-Byth T, Crock PA, Botta E, Christie LM, Nardo T, Caligiuri G, Hobson L, Boyle J, Mansour A, Friend KL, Crawford J, Jackson G, Vandeleur L, Hackett A, Tarpey P, Stratton MR, Turner G, Gécz J, Field M
J Med Genet 2015 Apr;52(4):269-74. Epub 2015 Jan 22 doi: 10.1136/jmedgenet-2014-102418. PMID: 25612912
Genetic disorders involving adrenal development.
Lin L, Ferraz-de-Souza B, Achermann JC
Endocr Dev 2007;11:36-46. doi: 10.1159/000111056. PMID: 17986825
Identification and characterization of an Xq26-q27 duplication in a family with spina bifida and panhypopituitarism suggests the involvement of two distinct genes.
Hol FA, Schepens MT, van Beersum SE, Redolfi E, Affer M, Vezzoni P, Hamel BC, Karnes PS, Mariman EC, Zucchi I
Genomics 2000 Oct 15;69(2):174-81. doi: 10.1006/geno.2000.6327. PMID: 11031100
X-linked recessive panhypopituitarism associated with a regional duplication in Xq25-q26.
Lagerström-Fermér M, Sundvall M, Johnsen E, Warne GL, Forrest SM, Zajac JD, Rickards A, Ravine D, Landegren U, Pettersson U
Am J Hum Genet 1997 Apr;60(4):910-6. PMID: 9106538Free PMC Article

Clinical prediction guides

A novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113A.
Corbett MA, Dudding-Byth T, Crock PA, Botta E, Christie LM, Nardo T, Caligiuri G, Hobson L, Boyle J, Mansour A, Friend KL, Crawford J, Jackson G, Vandeleur L, Hackett A, Tarpey P, Stratton MR, Turner G, Gécz J, Field M
J Med Genet 2015 Apr;52(4):269-74. Epub 2015 Jan 22 doi: 10.1136/jmedgenet-2014-102418. PMID: 25612912
SOX3 deletion in mouse and human is associated with persistence of the craniopharyngeal canal.
Alatzoglou KS, Azriyanti A, Rogers N, Ryan F, Curry N, Noakes C, Bignell P, Hall GW, Littooij AS, Saunders D, Thomas P, Stewart H, Dattani MT
J Clin Endocrinol Metab 2014 Dec;99(12):E2702-8. doi: 10.1210/jc.2014-1160. PMID: 25140394
X-linked recessive combined pituitary hormone deficiency is mapped to Xp22.3-Xp11 in a Chinese family.
Wang CL, Liang L, Shen Z, Zou CC, Fu JF, Dong GP
Genomics 2011 Dec;98(6):440-4. Epub 2011 Oct 6 doi: 10.1016/j.ygeno.2011.09.002. PMID: 22001696
X-linked recessive panhypopituitarism associated with a regional duplication in Xq25-q26.
Lagerström-Fermér M, Sundvall M, Johnsen E, Warne GL, Forrest SM, Zajac JD, Rickards A, Ravine D, Landegren U, Pettersson U
Am J Hum Genet 1997 Apr;60(4):910-6. PMID: 9106538Free PMC Article

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