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Decreased fertility

MedGen UID:
452706
Concept ID:
C0729353
Finding
Synonyms: Sub-Fertility; Subfertility
SNOMED CT: Decreased fertility (17276009); Subfertility (17276009)
 
HPO: HP:0000144

Conditions with this feature

Trichothiodystrophy 4, nonphotosensitive
MedGen UID:
272036
Concept ID:
C1313961
Disease or Syndrome
Trichothiodystrophy is a rare autosomal recessive disorder in which patients have brittle, sulfur-deficient hair that displays a diagnostic alternating light and dark banding pattern, called 'tiger tail banding,' under polarizing microscopy. TTD patients display a wide variety of clinical features, including cutaneous, neurologic, and growth abnormalities. Common additional clinical features are ichthyosis, intellectual/developmental disabilities, decreased fertility, abnormal characteristics at birth, ocular abnormalities, short stature, and infections. There are both photosensitive and nonphotosensitive forms of the disorder (summary by Faghri et al., 2008). Sabinas brittle hair syndrome (211390) is another form of nonphotosensitive TTD. For a discussion of genetic heterogeneity of trichothiodystrophy, see 601675.
Congenital generalized lipodystrophy type 2
MedGen UID:
318593
Concept ID:
C1720863
Congenital Abnormality
Berardinelli-Seip congenital lipodystrophy (BSCL) is usually diagnosed at birth or soon thereafter. Because of the absence of functional adipocytes, lipid is stored in other tissues, including muscle and liver. Affected individuals develop insulin resistance and approximately 25%-35% develop diabetes mellitus between ages 15 and 20 years. Hepatomegaly secondary to hepatic steatosis and skeletal muscle hypertrophy occur in all affected individuals. Hypertrophic cardiomyopathy is reported in 20%-25% of affected individuals and is a significant cause of morbidity from cardiac failure and early mortality.
Nondisjunction
MedGen UID:
320427
Concept ID:
C1834741
Disease or Syndrome
Chromosomal mosaicism as described here refers to a tendency to chromosomal nondisjunction. See also premature chromatid separation (PCS; 176430), which may also predispose to chromosomal nondisjunction.
Kennedy disease
MedGen UID:
333282
Concept ID:
C1839259
Disease or Syndrome
Spinal and bulbar muscular atrophy (SBMA) is a gradually progressive neuromuscular disorder in which degeneration of lower motor neurons results in muscle weakness, muscle atrophy, and fasciculations. SBMA occurs only in males. Affected individuals often show gynecomastia, testicular atrophy, and reduced fertility as a result of mild androgen insensitivity.
Endometriosis, susceptibility to, 1
MedGen UID:
338749
Concept ID:
C1851649
Finding
Primary ciliary dyskinesia 20
MedGen UID:
761920
Concept ID:
C3540844
Disease or Syndrome
CILD20 is an autosomal recessive ciliopathy characterized by infantile onset of chronic sinopulmonary infections resulting from immotile cilia and defective clearance. Patients may also have situs inversus or cardiac anomalies. Electron microscopy of respiratory epithelial cells shows absence of the outer dynein arms. Unlike other forms of CILD, patients with CILD20 do not appear to be infertile. For a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see 244400.

Professional guidelines

PubMed

Biagetti B, Ferrer Costa R, Alfayate Guerra R, Álvarez García E, Berlanga Escalera E, Casals G, Esteban Salán M, Granada Ibern ML, Gorrín Ramos J, López Lazareno N, Oriola J, Sánchez Martínez PM, Torregrosa Quesada ME, Urgell Rull E, García Lacalle C
Endocrinol Diabetes Nutr (Engl Ed) 2022 Jan;69(1):63-69. Epub 2022 Feb 16 doi: 10.1016/j.endien.2022.01.001. PMID: 35232561
Luger A, Broersen LHA, Biermasz NR, Biller BMK, Buchfelder M, Chanson P, Jorgensen JOL, Kelestimur F, Llahana S, Maiter D, Mintziori G, Petraglia F, Verkauskiene R, Webb SM, Dekkers OM
Eur J Endocrinol 2021 Aug 23;185(3):G1-G33. doi: 10.1530/EJE-21-0462. PMID: 34425558
Sharp VJ, Kieran K, Arlen AM
Am Fam Physician 2013 Dec 15;88(12):835-40. PMID: 24364548

Recent clinical studies

Etiology

Landrigan PJ, Raps H, Cropper M, Bald C, Brunner M, Canonizado EM, Charles D, Chiles TC, Donohue MJ, Enck J, Fenichel P, Fleming LE, Ferrier-Pages C, Fordham R, Gozt A, Griffin C, Hahn ME, Haryanto B, Hixson R, Ianelli H, James BD, Kumar P, Laborde A, Law KL, Martin K, Mu J, Mulders Y, Mustapha A, Niu J, Pahl S, Park Y, Pedrotti ML, Pitt JA, Ruchirawat M, Seewoo BJ, Spring M, Stegeman JJ, Suk W, Symeonides C, Takada H, Thompson RC, Vicini A, Wang Z, Whitman E, Wirth D, Wolff M, Yousuf AK, Dunlop S
Ann Glob Health 2023;89(1):23. Epub 2023 Mar 21 doi: 10.5334/aogh.4056. PMID: 36969097Free PMC Article
Luger A, Broersen LHA, Biermasz NR, Biller BMK, Buchfelder M, Chanson P, Jorgensen JOL, Kelestimur F, Llahana S, Maiter D, Mintziori G, Petraglia F, Verkauskiene R, Webb SM, Dekkers OM
Eur J Endocrinol 2021 Aug 23;185(3):G1-G33. doi: 10.1530/EJE-21-0462. PMID: 34425558
Dumanski SM, Ahmed SB
J Nephrol 2019 Feb;32(1):39-50. Epub 2019 Jan 2 doi: 10.1007/s40620-018-00569-9. PMID: 30604149
Ruan X, Mueck AO
Maturitas 2015 Nov;82(3):266-70. Epub 2015 Jun 26 doi: 10.1016/j.maturitas.2015.06.030. PMID: 26163075
Baldwin MK, Jensen JT
Maturitas 2013 Nov;76(3):235-42. Epub 2013 Aug 8 doi: 10.1016/j.maturitas.2013.07.009. PMID: 23932427

Diagnosis

Landrigan PJ, Raps H, Cropper M, Bald C, Brunner M, Canonizado EM, Charles D, Chiles TC, Donohue MJ, Enck J, Fenichel P, Fleming LE, Ferrier-Pages C, Fordham R, Gozt A, Griffin C, Hahn ME, Haryanto B, Hixson R, Ianelli H, James BD, Kumar P, Laborde A, Law KL, Martin K, Mu J, Mulders Y, Mustapha A, Niu J, Pahl S, Park Y, Pedrotti ML, Pitt JA, Ruchirawat M, Seewoo BJ, Spring M, Stegeman JJ, Suk W, Symeonides C, Takada H, Thompson RC, Vicini A, Wang Z, Whitman E, Wirth D, Wolff M, Yousuf AK, Dunlop S
Ann Glob Health 2023;89(1):23. Epub 2023 Mar 21 doi: 10.5334/aogh.4056. PMID: 36969097Free PMC Article
Luger A, Broersen LHA, Biermasz NR, Biller BMK, Buchfelder M, Chanson P, Jorgensen JOL, Kelestimur F, Llahana S, Maiter D, Mintziori G, Petraglia F, Verkauskiene R, Webb SM, Dekkers OM
Eur J Endocrinol 2021 Aug 23;185(3):G1-G33. doi: 10.1530/EJE-21-0462. PMID: 34425558
List EO, Basu R, Duran-Ortiz S, Krejsa J, Jensen EA
Rev Endocr Metab Disord 2021 Mar;22(1):3-16. Epub 2020 Oct 9 doi: 10.1007/s11154-020-09601-5. PMID: 33033978
de Angelis C, Nardone A, Garifalos F, Pivonello C, Sansone A, Conforti A, Di Dato C, Sirico F, Alviggi C, Isidori A, Colao A, Pivonello R
Reprod Biol Endocrinol 2020 Mar 12;18(1):21. doi: 10.1186/s12958-020-0567-7. PMID: 32164734Free PMC Article
Sharp VJ, Kieran K, Arlen AM
Am Fam Physician 2013 Dec 15;88(12):835-40. PMID: 24364548

Therapy

Gutvirtz G, Sheiner E
Best Pract Res Clin Obstet Gynaecol 2022 Dec;85(Pt B):81-93. Epub 2022 Oct 6 doi: 10.1016/j.bpobgyn.2022.09.005. PMID: 36333255
de Angelis C, Nardone A, Garifalos F, Pivonello C, Sansone A, Conforti A, Di Dato C, Sirico F, Alviggi C, Isidori A, Colao A, Pivonello R
Reprod Biol Endocrinol 2020 Mar 12;18(1):21. doi: 10.1186/s12958-020-0567-7. PMID: 32164734Free PMC Article
Dumanski SM, Ahmed SB
J Nephrol 2019 Feb;32(1):39-50. Epub 2019 Jan 2 doi: 10.1007/s40620-018-00569-9. PMID: 30604149
Baldwin MK, Jensen JT
Maturitas 2013 Nov;76(3):235-42. Epub 2013 Aug 8 doi: 10.1016/j.maturitas.2013.07.009. PMID: 23932427
Pritts EA, Parker WH, Olive DL
Fertil Steril 2009 Apr;91(4):1215-23. Epub 2008 Mar 12 doi: 10.1016/j.fertnstert.2008.01.051. PMID: 18339376

Prognosis

Wang Q, Wang Q, Zhao L, Bin Y, Wang L, Wang L, Zhang K, Li Q
Front Endocrinol (Lausanne) 2022;13:814520. Epub 2022 Feb 24 doi: 10.3389/fendo.2022.814520. PMID: 35282443Free PMC Article
Halaska MJ, Drochytek V, Shmakov RG, Amant F
Best Pract Res Clin Obstet Gynaecol 2021 Sep;75:101-112. Epub 2021 Apr 22 doi: 10.1016/j.bpobgyn.2021.03.014. PMID: 33992541
Garnier-Lengliné H, Cerf-Bensussan N, Ruemmele FM
Clin Res Hepatol Gastroenterol 2015 Oct;39(5):544-51. Epub 2015 Jul 15 doi: 10.1016/j.clinre.2015.05.024. PMID: 26186878
Su HI
Minerva Endocrinol 2010 Dec;35(4):259-70. PMID: 21178920
Tandon VR, Sharma S, Mahajan A, Khajuria V, Kumar A
Indian J Med Sci 2006 Aug;60(8):334-44. PMID: 16864922

Clinical prediction guides

Cohen NJ, Yao M, Midya V, India-Aldana S, Mouzica T, Andra SS, Narasimhan S, Meher AK, Arora M, Chan JKY, Chan SY, Loy SL, Minguez-Alarcon L, Oulhote Y, Huang J, Valvi D
Sci Total Environ 2023 May 15;873:162267. Epub 2023 Feb 17 doi: 10.1016/j.scitotenv.2023.162267. PMID: 36801327Free PMC Article
Wang Q, Wang Q, Zhao L, Bin Y, Wang L, Wang L, Zhang K, Li Q
Front Endocrinol (Lausanne) 2022;13:814520. Epub 2022 Feb 24 doi: 10.3389/fendo.2022.814520. PMID: 35282443Free PMC Article
Garcia MT, Lin LH, Fushida K, Francisco RP, Zugaib M
Rev Assoc Med Bras (1992) 2016 Dec;62(9):837-842. doi: 10.1590/1806-9282.62.09.837. PMID: 28001257
Baldwin MK, Jensen JT
Maturitas 2013 Nov;76(3):235-42. Epub 2013 Aug 8 doi: 10.1016/j.maturitas.2013.07.009. PMID: 23932427
Su HI
Minerva Endocrinol 2010 Dec;35(4):259-70. PMID: 21178920

Recent systematic reviews

Delorenzi Schons D, Leite GAA
Crit Rev Toxicol 2023 Sep;53(8):506-520. Epub 2023 Nov 10 doi: 10.1080/10408444.2023.2270494. PMID: 37922518
Marzo RR, Khanal P, Shrestha S, Mohan D, Myint PK, Su TT
Front Public Health 2023;11:1193789. Epub 2023 Jun 26 doi: 10.3389/fpubh.2023.1193789. PMID: 37435519Free PMC Article
Garcia MT, Lin LH, Fushida K, Francisco RP, Zugaib M
Rev Assoc Med Bras (1992) 2016 Dec;62(9):837-842. doi: 10.1590/1806-9282.62.09.837. PMID: 28001257
Pritts EA, Parker WH, Olive DL
Fertil Steril 2009 Apr;91(4):1215-23. Epub 2008 Mar 12 doi: 10.1016/j.fertnstert.2008.01.051. PMID: 18339376
Pritts EA
Obstet Gynecol Surv 2001 Aug;56(8):483-91. doi: 10.1097/00006254-200108000-00022. PMID: 11496160

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