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Osteosclerosis-ichthyosis-premature ovarian failure syndrome

MedGen UID:
355875
•Concept ID:
C1864942
•
Disease or Syndrome
Synonyms: Osteosclerosis with ichthyosis and POF; Osteosclerosis with ichthyosis and premature ovarian failure; Sclerosing dysplasia of bone with ichthyosis and premature ovarian failure
Modes of inheritance:
Unknown inheritance
MedGen UID:
989040
•Concept ID:
CN307042
•
Finding
Source: Orphanet
Hereditary clinical entity whose mode of inheritance is unknown.
See: This record
Unknown inheritance (Orphanet)
 
Monarch Initiative: MONDO:0012387
OMIM®: 609993
Orphanet: ORPHA75325

Definition

A rare genetic disease characterized by sclerosing dysplasia affecting the diaphyseal and metaphyseal regions of the long bones, as well as the skull and metacarpals, in association with skin changes like those seen in ichthyosis vulgaris and premature ovarian failure with bilateral hypoplasia of the ovaries. Patients present in adulthood, primarily with swelling of the extremities and occasional mild pain in the legs. [from ORDO]

Clinical features

From HPO
Lower limb pain
MedGen UID:
6033
•Concept ID:
C0023222
•
Sign or Symptom
An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the leg.
See: Feature record | Search on this feature
Premature ovarian insufficiency
MedGen UID:
9963
•Concept ID:
C0025322
•
Disease or Syndrome
Amenorrhea due to loss of ovarian function before the age of 40. Primary ovarian inssuficiency (POI) is a state of female hypergonadotropic hypogonadism. It can manifest as primary amenorrhea with onset before menarche or secondary amenorrhea.
See: Feature record | Search on this feature
Hypoplasia of the ovary
MedGen UID:
672766
•Concept ID:
C0685840
•
Congenital Abnormality
Developmental hypoplasia of the ovary.
See: Feature record | Search on this feature
Subperiosteal bone formation
MedGen UID:
393241
•Concept ID:
C2674853
•
Finding
The formation of new bone along the cortex and underneath the periosteum of a bone.
See: Feature record | Search on this feature
Osteosclerosis of the base of the skull
MedGen UID:
867264
•Concept ID:
C4021624
•
Finding
An increase in bone density affecting the basicranium (base of the skull).
See: Feature record | Search on this feature
Ichthyosis
MedGen UID:
7002
•Concept ID:
C0020757
•
Disease or Syndrome
An abnormality of the skin characterized the presence of excessive amounts of dry surface scales on the skin resulting from an abnormality of keratinization.
See: Feature record | Search on this feature
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVOsteosclerosis-ichthyosis-premature ovarian failure syndrome
Follow this link to review classifications for Osteosclerosis-ichthyosis-premature ovarian failure syndrome in Orphanet.

Professional guidelines

PubMed

Diagnosis and Management of Infertility: A Review.
Carson SA, Kallen AN
JAMA 2021 Jul 6;326(1):65-76. doi: 10.1001/jama.2021.4788. PMID: 34228062Free PMC Article
Capillary leak syndrome: etiologies, pathophysiology, and management.
Siddall E, Khatri M, Radhakrishnan J
Kidney Int 2017 Jul;92(1):37-46. Epub 2017 Mar 17 doi: 10.1016/j.kint.2016.11.029. PMID: 28318633
Amenorrhea: an approach to diagnosis and management.
Klein DA, Poth MA
Am Fam Physician 2013 Jun 1;87(11):781-8. PMID: 23939500

Recent clinical studies

Etiology

Turner Syndrome and Fertility.
Viuff M, Gravholt CH
Ann Endocrinol (Paris) 2022 Aug;83(4):244-249. Epub 2022 Jun 18 doi: 10.1016/j.ando.2022.06.001. PMID: 35728697
Application of Stem Cell Therapy for Infertility.
Saha S, Roy P, Corbitt C, Kakar SS
Cells 2021 Jun 28;10(7) doi: 10.3390/cells10071613. PMID: 34203240Free PMC Article
Autoimmune Diseases in Patients with Premature Ovarian Insufficiency-Our Current State of Knowledge.
Szeliga A, Calik-Ksepka A, Maciejewska-Jeske M, Grymowicz M, Smolarczyk K, Kostrzak A, Smolarczyk R, Rudnicka E, Meczekalski B
Int J Mol Sci 2021 Mar 5;22(5) doi: 10.3390/ijms22052594. PMID: 33807517Free PMC Article
Down syndrome and infertility: what support should we provide?
Parizot E, Dard R, Janel N, Vialard F
J Assist Reprod Genet 2019 Jun;36(6):1063-1067. Epub 2019 May 9 doi: 10.1007/s10815-019-01457-2. PMID: 31073724Free PMC Article
Hormone replacement therapy in young women with primary ovarian insufficiency and early menopause.
Sullivan SD, Sarrel PM, Nelson LM
Fertil Steril 2016 Dec;106(7):1588-1599. doi: 10.1016/j.fertnstert.2016.09.046. PMID: 27912889Free PMC Article

Diagnosis

Abdominal Pain Mimics.
Murali N, El Hayek SM
Emerg Med Clin North Am 2021 Nov;39(4):839-850. Epub 2021 Sep 10 doi: 10.1016/j.emc.2021.07.003. PMID: 34600641Free PMC Article
Diagnosis and Management of Infertility: A Review.
Carson SA, Kallen AN
JAMA 2021 Jul 6;326(1):65-76. doi: 10.1001/jama.2021.4788. PMID: 34228062Free PMC Article
Male and Female Hypogonadism.
Richard-Eaglin A
Nurs Clin North Am 2018 Sep;53(3):395-405. doi: 10.1016/j.cnur.2018.04.006. PMID: 30100005
Fertility and infertility: Definition and epidemiology.
Vander Borght M, Wyns C
Clin Biochem 2018 Dec;62:2-10. Epub 2018 Mar 16 doi: 10.1016/j.clinbiochem.2018.03.012. PMID: 29555319
Capillary leak syndrome: etiologies, pathophysiology, and management.
Siddall E, Khatri M, Radhakrishnan J
Kidney Int 2017 Jul;92(1):37-46. Epub 2017 Mar 17 doi: 10.1016/j.kint.2016.11.029. PMID: 28318633

Therapy

Turner Syndrome and Fertility.
Viuff M, Gravholt CH
Ann Endocrinol (Paris) 2022 Aug;83(4):244-249. Epub 2022 Jun 18 doi: 10.1016/j.ando.2022.06.001. PMID: 35728697
Diagnosis and Management of Infertility: A Review.
Carson SA, Kallen AN
JAMA 2021 Jul 6;326(1):65-76. doi: 10.1001/jama.2021.4788. PMID: 34228062Free PMC Article
Capillary leak syndrome: etiologies, pathophysiology, and management.
Siddall E, Khatri M, Radhakrishnan J
Kidney Int 2017 Jul;92(1):37-46. Epub 2017 Mar 17 doi: 10.1016/j.kint.2016.11.029. PMID: 28318633
Hormone replacement therapy in young women with primary ovarian insufficiency and early menopause.
Sullivan SD, Sarrel PM, Nelson LM
Fertil Steril 2016 Dec;106(7):1588-1599. doi: 10.1016/j.fertnstert.2016.09.046. PMID: 27912889Free PMC Article
Exercise as medicine - evidence for prescribing exercise as therapy in 26 different chronic diseases.
Pedersen BK, Saltin B
Scand J Med Sci Sports 2015 Dec;25 Suppl 3:1-72. doi: 10.1111/sms.12581. PMID: 26606383

Prognosis

Turner Syndrome and Fertility.
Viuff M, Gravholt CH
Ann Endocrinol (Paris) 2022 Aug;83(4):244-249. Epub 2022 Jun 18 doi: 10.1016/j.ando.2022.06.001. PMID: 35728697
Anti-Müllerian Hormone in Female Reproduction.
di Clemente N, Racine C, Pierre A, Taieb J
Endocr Rev 2021 Nov 16;42(6):753-782. doi: 10.1210/endrev/bnab012. PMID: 33851994
Fertility and infertility: Definition and epidemiology.
Vander Borght M, Wyns C
Clin Biochem 2018 Dec;62:2-10. Epub 2018 Mar 16 doi: 10.1016/j.clinbiochem.2018.03.012. PMID: 29555319
Capillary leak syndrome: etiologies, pathophysiology, and management.
Siddall E, Khatri M, Radhakrishnan J
Kidney Int 2017 Jul;92(1):37-46. Epub 2017 Mar 17 doi: 10.1016/j.kint.2016.11.029. PMID: 28318633
A review of trisomy X (47,XXX).
Tartaglia NR, Howell S, Sutherland A, Wilson R, Wilson L
Orphanet J Rare Dis 2010 May 11;5:8. doi: 10.1186/1750-1172-5-8. PMID: 20459843Free PMC Article

Clinical prediction guides

Diagnosis and Management of Infertility: A Review.
Carson SA, Kallen AN
JAMA 2021 Jul 6;326(1):65-76. doi: 10.1001/jama.2021.4788. PMID: 34228062Free PMC Article
Application of Stem Cell Therapy for Infertility.
Saha S, Roy P, Corbitt C, Kakar SS
Cells 2021 Jun 28;10(7) doi: 10.3390/cells10071613. PMID: 34203240Free PMC Article
Anti-Müllerian Hormone in Female Reproduction.
di Clemente N, Racine C, Pierre A, Taieb J
Endocr Rev 2021 Nov 16;42(6):753-782. doi: 10.1210/endrev/bnab012. PMID: 33851994
Fertility and infertility: Definition and epidemiology.
Vander Borght M, Wyns C
Clin Biochem 2018 Dec;62:2-10. Epub 2018 Mar 16 doi: 10.1016/j.clinbiochem.2018.03.012. PMID: 29555319
Capillary leak syndrome: etiologies, pathophysiology, and management.
Siddall E, Khatri M, Radhakrishnan J
Kidney Int 2017 Jul;92(1):37-46. Epub 2017 Mar 17 doi: 10.1016/j.kint.2016.11.029. PMID: 28318633

Recent systematic reviews

Acupuncture for polycystic ovarian syndrome.
Lim CED, Ng RWC, Cheng NCL, Zhang GS, Chen H
Cochrane Database Syst Rev 2019 Jul 2;7(7):CD007689. doi: 10.1002/14651858.CD007689.pub4. PMID: 31264709Free PMC Article
Assisted reproductive technology: an overview of Cochrane Reviews.
Farquhar C, Marjoribanks J
Cochrane Database Syst Rev 2018 Aug 17;8(8):CD010537. doi: 10.1002/14651858.CD010537.pub5. PMID: 30117155Free PMC Article
Women-specific risk factors for heart failure: A genetic approach.
van der Kemp J, van der Schouw YT, Asselbergs FW, Onland-Moret NC
Maturitas 2018 Mar;109:104-111. Epub 2017 Dec 30 doi: 10.1016/j.maturitas.2017.12.016. PMID: 29452776
Ovarian drilling for surgical treatment of polycystic ovarian syndrome: a comprehensive review.
Fernandez H, Morin-Surruca M, Torre A, Faivre E, Deffieux X, Gervaise A
Reprod Biomed Online 2011 Jun;22(6):556-68. Epub 2011 Mar 21 doi: 10.1016/j.rbmo.2011.03.013. PMID: 21511534
Female infertility.
Bhattacharya S, Johnson N, Tijani HA, Hart R, Pandey S, Gibreel AF
BMJ Clin Evid 2010 Nov 11;2010 PMID: 21406133Free PMC Article

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