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Decreased serum estradiol

MedGen UID:
69129
Concept ID:
C0241011
Finding
Synonyms: Low serum 17-B-estradiol levels; Low serum estradiol levels; Serum estradiol levels below reference range
SNOMED CT: Low serum estradiol levels (166449002); Low serum 17-B-estradiol levels (166449002); Serum estradiol levels below reference range (166449002)
 
HPO: HP:0008214

Definition

A reduction below normal concentration of estradiol in the circulation. [from HPO]

Term Hierarchy

Conditions with this feature

Hypogonadotropic hypogonadism 12 with or without anosmia
MedGen UID:
347328
Concept ID:
C1856897
Disease or Syndrome
Isolated gonadotropin-releasing hormone (GnRH) deficiency (IGD) is characterized by inappropriately low serum concentrations of the gonadotropins LH (luteinizing hormone) and FSH (follicle-stimulating hormone) in the presence of low circulating concentrations of sex steroids. IGD is associated with a normal sense of smell (normosmic IGD) in approximately 40% of affected individuals and an impaired sense of smell (Kallmann syndrome) in approximately 60%. IGD can first become apparent in infancy, adolescence, or adulthood. Infant boys with congenital IGD often have micropenis and cryptorchidism. Adolescents and adults with IGD have clinical evidence of hypogonadism and incomplete sexual maturation on physical examination. Adult males with IGD tend to have prepubertal testicular volume (i.e., <4 mL), absence of secondary sexual features (e.g., facial and axillary hair growth, deepening of the voice), decreased muscle mass, diminished libido, erectile dysfunction, and infertility. Adult females have little or no breast development and primary amenorrhea. Although skeletal maturation is delayed, the rate of linear growth is usually normal except for the absence of a distinct pubertal growth spurt.
Congenital cataracts-facial dysmorphism-neuropathy syndrome
MedGen UID:
346973
Concept ID:
C1858726
Congenital Abnormality
CTDP1-related congenital cataracts, facial dysmorphism, and neuropathy (CTDP1-CCFDN) is characterized by abnormalities of the eye (bilateral congenital cataracts, microcornea, microphthalmia, micropupils), mildly dysmorphic facial features apparent in late childhood, and a hypo-/demyelinating, symmetric, distal peripheral neuropathy. The neuropathy is predominantly motor at the onset and results in delays in early motor development, progressing to severe disability by the third decade of life. Secondary foot deformities and scoliosis are common. Sensory neuropathy develops after age ten years. Most affected individuals have a mild nonprogressive intellectual deficit and cerebellar involvement including ataxia, nystagmus, intention tremor, and dysmetria. All have short stature and most have subnormal weight. Adults have hypogonadotropic hypogonadism. Parainfectious rhabdomyolysis (profound muscle weakness, myoglobinuria, and excessively elevated serum concentration of creatine kinase usually following a viral infection) is a potentially life-threatening complication. To date all affected individuals and carriers identified have been from the Romani population.
Hypogonadotropic hypogonadism 13 with or without anosmia
MedGen UID:
762090
Concept ID:
C3541462
Disease or Syndrome
Isolated gonadotropin-releasing hormone (GnRH) deficiency (IGD) is characterized by inappropriately low serum concentrations of the gonadotropins LH (luteinizing hormone) and FSH (follicle-stimulating hormone) in the presence of low circulating concentrations of sex steroids. IGD is associated with a normal sense of smell (normosmic IGD) in approximately 40% of affected individuals and an impaired sense of smell (Kallmann syndrome) in approximately 60%. IGD can first become apparent in infancy, adolescence, or adulthood. Infant boys with congenital IGD often have micropenis and cryptorchidism. Adolescents and adults with IGD have clinical evidence of hypogonadism and incomplete sexual maturation on physical examination. Adult males with IGD tend to have prepubertal testicular volume (i.e., <4 mL), absence of secondary sexual features (e.g., facial and axillary hair growth, deepening of the voice), decreased muscle mass, diminished libido, erectile dysfunction, and infertility. Adult females have little or no breast development and primary amenorrhea. Although skeletal maturation is delayed, the rate of linear growth is usually normal except for the absence of a distinct pubertal growth spurt.
Hypogonadotropic hypogonadism 16 with or without anosmia
MedGen UID:
766935
Concept ID:
C3554021
Disease or Syndrome
Isolated gonadotropin-releasing hormone (GnRH) deficiency (IGD) is characterized by inappropriately low serum concentrations of the gonadotropins LH (luteinizing hormone) and FSH (follicle-stimulating hormone) in the presence of low circulating concentrations of sex steroids. IGD is associated with a normal sense of smell (normosmic IGD) in approximately 40% of affected individuals and an impaired sense of smell (Kallmann syndrome) in approximately 60%. IGD can first become apparent in infancy, adolescence, or adulthood. Infant boys with congenital IGD often have micropenis and cryptorchidism. Adolescents and adults with IGD have clinical evidence of hypogonadism and incomplete sexual maturation on physical examination. Adult males with IGD tend to have prepubertal testicular volume (i.e., <4 mL), absence of secondary sexual features (e.g., facial and axillary hair growth, deepening of the voice), decreased muscle mass, diminished libido, erectile dysfunction, and infertility. Adult females have little or no breast development and primary amenorrhea. Although skeletal maturation is delayed, the rate of linear growth is usually normal except for the absence of a distinct pubertal growth spurt.
Perrault syndrome 4
MedGen UID:
815435
Concept ID:
C3809105
Disease or Syndrome
Perrault syndrome is characterized by sensorineural hearing loss (SNHL) in males and females and ovarian dysfunction in females. SNHL is bilateral and ranges from profound with prelingual (congenital) onset to moderate with early-childhood onset. When onset is in early childhood, hearing loss can be progressive. Ovarian dysfunction ranges from gonadal dysgenesis (absent or streak gonads) manifesting as primary amenorrhea to primary ovarian insufficiency (POI) defined as cessation of menses before age 40 years. Fertility in affected males is reported as normal (although the number of reported males is limited). Neurologic features described in some individuals with Perrault syndrome include learning difficulties and developmental delay, cerebellar ataxia, and motor and sensory peripheral neuropathy.
Premature ovarian failure 8
MedGen UID:
816697
Concept ID:
C3810367
Disease or Syndrome
Premature ovarian failure (POF), the endpoint of primary ovarian insufficiency, affects approximately 1% of women worldwide. Patients with POF present with at least a 6-month history of amenorrhea and elevated plasma levels of follicle-stimulating hormone (more than 40 mIU per milliliter). The disorder can result from premature depletion of the follicle pool, follicular atresia, follicle growth arrest, or ovarian dysgenesis (see 233300). In approximately 10 to 15% of patients with POF, a genetic cause has been determined (summary by Caburet et al., 2014). For a general phenotypic description and a discussion of genetic heterogeneity of premature ovarian failure, see POF1 (311360). Mutation in the STAG3 gene also causes male infertility; see spermatogenic failure-61 (SPGF61; 619672).
Hypogonadotropic hypogonadism 22 with or without anosmia
MedGen UID:
863425
Concept ID:
C4014988
Disease or Syndrome
Isolated gonadotropin-releasing hormone (GnRH) deficiency (IGD) is characterized by inappropriately low serum concentrations of the gonadotropins LH (luteinizing hormone) and FSH (follicle-stimulating hormone) in the presence of low circulating concentrations of sex steroids. IGD is associated with a normal sense of smell (normosmic IGD) in approximately 40% of affected individuals and an impaired sense of smell (Kallmann syndrome) in approximately 60%. IGD can first become apparent in infancy, adolescence, or adulthood. Infant boys with congenital IGD often have micropenis and cryptorchidism. Adolescents and adults with IGD have clinical evidence of hypogonadism and incomplete sexual maturation on physical examination. Adult males with IGD tend to have prepubertal testicular volume (i.e., <4 mL), absence of secondary sexual features (e.g., facial and axillary hair growth, deepening of the voice), decreased muscle mass, diminished libido, erectile dysfunction, and infertility. Adult females have little or no breast development and primary amenorrhea. Although skeletal maturation is delayed, the rate of linear growth is usually normal except for the absence of a distinct pubertal growth spurt.
46,XX ovarian dysgenesis-short stature syndrome
MedGen UID:
863846
Concept ID:
C4015409
Disease or Syndrome
A rare genetic disorder of sex development characterized by primary amenorrhea, short stature, delayed bone age, decreased levels of estradiol, elevated levels of follicle-stimulating hormone and luteinizing hormone, absent or underdeveloped uterus and ovaries, delayed development of pubic and axillary hair and normal 46,XX karyotype.
Ovarian dysgenesis 5
MedGen UID:
1627972
Concept ID:
C4540141
Disease or Syndrome
Premature ovarian failure 14
MedGen UID:
1646133
Concept ID:
C4693941
Disease or Syndrome
Premature ovarian failure-14 (POF14) is characterized by amenorrhea, hypoestrogenism, and elevated gonadotropin levels (Franca et al., 2018). For a general phenotypic description and discussion of genetic heterogeneity of premature ovarian failure, see POF1 (311360).
Ovarian dysgenesis 7
MedGen UID:
1648458
Concept ID:
C4748263
Disease or Syndrome
Ovarian dysgenesis-7 (ODG7) is characterized by primary amenorrhea, delayed puberty, elevated gonadotropic hormones, and small uterus and ovaries. Ovarian histology shows fibrotic ovaries without follicles (Chen et al., 2018). For a discussion of genetic heterogeneity of ovarian dysgenesis, see ODG1 (233300).
Ovarian dysgenesis 8
MedGen UID:
1648455
Concept ID:
C4748626
Disease or Syndrome
Ovarian dysgenesis-8 (ODG8) is characterized by complete lack of estrogen action, resulting in absent breast development, primary amenorrhea, and osteoporosis (Lang-Muritano et al., 2018). For a discussion of genetic heterogeneity of ovarian dysgenesis, see ODG1 (233300).
Premature ovarian failure 16
MedGen UID:
1684679
Concept ID:
C5231474
Disease or Syndrome
Premature ovarian failure-16 (POF16) is characterized by onset of amenorrhea early in the fourth decade of life, accompanied by elevated follicle-stimulating hormone (FSH; see 136530) levels and low estradiol levels. Ovaries are smaller than normal and show a solid echo pattern with no antral follicle (Zhang et al., 2018).
Hypogonadotropic hypogonadism 25 with anosmia
MedGen UID:
1717461
Concept ID:
C5394246
Disease or Syndrome
Hypogonadotropic hypogonadism-25 with anosmia (HH25) is characterized by delayed or absent puberty with low gonadotropic hormones in the setting of low testosterone or estradiol. Affected individuals also exhibit hyposmia or anosmia, with hypoplastic olfactory bulbs on MRI. Intrafamilial variable expressivity and incomplete penetrance has been observed (Messina et al., 2020). For a discussion of genetic heterogeneity of hypogonadotropic hypogonadism with or without anosmia, see 147950.
Premature ovarian failure 17
MedGen UID:
1748767
Concept ID:
C5436889
Disease or Syndrome
Premature ovarian failure-17 (POF17) is characterized by early cessation of menses after initial menarche, with small ovaries and uterus (Zhang et al., 2019). For a discussion of genetic heterogeneity of premature ovarian failure, see POF1 (311360).
Ovarian dysgenesis 9
MedGen UID:
1794256
Concept ID:
C5562046
Disease or Syndrome
Ovarian dysgenesis-9 (ODG9) is characterized by severe nonsyndromic primary ovarian insufficiency with primary amenorrhea, hypoplastic or absent ovaries, and delayed bone age. Patient cells show evidence of chromosomal instability (Smirin-Yosef et al., 2017; Heddar et al., 2022). For a general phenotypic description and discussion of genetic heterogeneity of ovarian dysgenesis, see ODG1 (233300).
Ovarian dysgenesis 10
MedGen UID:
1801078
Concept ID:
C5676966
Disease or Syndrome
Ovarian dysgenesis-10 (ODG10) is characterized by primary amenorrhea and absent puberty. The uterus is small and prepubertal, and ovaries are streak or not visualized on ultrasound (McGlacken-Byrne et al., 2022). Mutation in the ZSWIM7 gene also causes male infertility due to spermatogenic failure (SPGF71; 619831). For a general phenotypic description and discussion of genetic heterogeneity of ovarian dysgenesis, see ODG1 (233300).
Premature ovarian failure 21
MedGen UID:
1841035
Concept ID:
C5830399
Disease or Syndrome
Premature ovarian failure-21 (POF21) is characterized by female infertility due to primary or secondary amenorrhea. Ovaries are small, atrophic, or nonvisualized on ultrasound (Tucker et al., 2019; Tucker et al., 2022). For a general phenotypic description and a discussion of genetic heterogeneity of POF, see POF1 (311360).

Professional guidelines

PubMed

Ma WQ, Zhuo AP, Xiao YL, Gao M, Yang YT, Tang LC, Wu YH, Tian D, Fu XF
Stem Cell Rev Rep 2024 Feb;20(2):538-553. Epub 2023 Dec 4 doi: 10.1007/s12015-023-10629-8. PMID: 38049593
Borges E Jr, Braga DP, Setti AS, Vingris LS, Figueira RC, Iaconelli A Jr
JBRA Assist Reprod 2016 Mar 1;20(1):8-12. doi: 10.5935/1518-0557.20160003. PMID: 27203299
Wang QM, Yuan L, Qi YJ, Ma ZY, Wang LD
Med Sci Monit 2010 Jul;16(7):HY19-22. PMID: 20581783

Recent clinical studies

Etiology

Cheng J, Yang S, Ma H, Liang Y, Zhao J
J Healthc Eng 2022;2022:2473876. Epub 2022 Apr 7 doi: 10.1155/2022/2473876. PMID: 35432835Free PMC Article
Borges E Jr, Braga DP, Setti AS, Vingris LS, Figueira RC, Iaconelli A Jr
JBRA Assist Reprod 2016 Mar 1;20(1):8-12. doi: 10.5935/1518-0557.20160003. PMID: 27203299
Wang QM, Yuan L, Qi YJ, Ma ZY, Wang LD
Med Sci Monit 2010 Jul;16(7):HY19-22. PMID: 20581783
Pietschmann P, Kerschan-Schindl K
Wien Med Wochenschr 2004 Sep;154(17-18):411-5. doi: 10.1007/s10354-004-0100-1. PMID: 15552228
Nagata C, Kabuto M, Kurisu Y, Shimizu H
Nutr Cancer 1997;29(3):228-33. doi: 10.1080/01635589709514629. PMID: 9457744

Diagnosis

Cheng J, Yang S, Ma H, Liang Y, Zhao J
J Healthc Eng 2022;2022:2473876. Epub 2022 Apr 7 doi: 10.1155/2022/2473876. PMID: 35432835Free PMC Article
Zhou Y, Zhang A, Gong M, Lu Y, Zhao C, Shen X, Zhang X, Wang L, Chen J, Ju R
Endocrinology 2020 May 1;161(5) doi: 10.1210/endocr/bqz011. PMID: 31680156
Podfigurna-Stopa A, Czyzyk A, Katulski K, Moszynski R, Sajdak S, Genazzani AR, Meczekalski B
Gynecol Endocrinol 2016;32(3):184-7. Epub 2015 Nov 20 doi: 10.3109/09513590.2015.1113519. PMID: 26585670
Caillouette JC, Sharp CF Jr, Zimmerman GJ, Roy S
Am J Obstet Gynecol 1997 Jun;176(6):1270-5; discussion 1275-7. doi: 10.1016/s0002-9378(97)70345-4. PMID: 9215184
Bird CE, Houghton B, Westenbrink W, Tenniswood M, Sterns EE, Clark AF
Can Med Assoc J 1981 Apr 15;124(8):1010-2. PMID: 7260784Free PMC Article

Therapy

Loves S, de Jong J, van Sorge A, Telting D, Tack CJ, Hermus A, Westerterp K, de Boer H
Eur J Endocrinol 2013 Nov;169(5):705-14. Epub 2013 Oct 8 doi: 10.1530/EJE-13-0190. PMID: 23949882
Folwarczna J, Zych M, Trzeciak HI
Pharmacol Rep 2010 Sep-Oct;62(5):900-9. doi: 10.1016/s1734-1140(10)70350-9. PMID: 21098873
Kimata H
J Sex Med 2008 Sep;5(9):2107-10. Epub 2008 Feb 4 doi: 10.1111/j.1743-6109.2007.00767.x. PMID: 18266651
Pietschmann P, Kerschan-Schindl K
Wien Med Wochenschr 2004 Sep;154(17-18):411-5. doi: 10.1007/s10354-004-0100-1. PMID: 15552228
Nagata C, Kabuto M, Kurisu Y, Shimizu H
Nutr Cancer 1997;29(3):228-33. doi: 10.1080/01635589709514629. PMID: 9457744

Prognosis

Cheng J, Yang S, Ma H, Liang Y, Zhao J
J Healthc Eng 2022;2022:2473876. Epub 2022 Apr 7 doi: 10.1155/2022/2473876. PMID: 35432835Free PMC Article
Wang QM, Yuan L, Qi YJ, Ma ZY, Wang LD
Med Sci Monit 2010 Jul;16(7):HY19-22. PMID: 20581783
Lindheim SR, Morales AJ
Hum Reprod 2003 Oct;18(10):2048-51. doi: 10.1093/humrep/deg407. PMID: 14507819
Caillouette JC, Sharp CF Jr, Zimmerman GJ, Roy S
Am J Obstet Gynecol 1997 Jun;176(6):1270-5; discussion 1275-7. doi: 10.1016/s0002-9378(97)70345-4. PMID: 9215184

Clinical prediction guides

Cheng J, Yang S, Ma H, Liang Y, Zhao J
J Healthc Eng 2022;2022:2473876. Epub 2022 Apr 7 doi: 10.1155/2022/2473876. PMID: 35432835Free PMC Article
Zhou Y, Zhang A, Gong M, Lu Y, Zhao C, Shen X, Zhang X, Wang L, Chen J, Ju R
Endocrinology 2020 May 1;161(5) doi: 10.1210/endocr/bqz011. PMID: 31680156
Borges E Jr, Braga DP, Setti AS, Vingris LS, Figueira RC, Iaconelli A Jr
JBRA Assist Reprod 2016 Mar 1;20(1):8-12. doi: 10.5935/1518-0557.20160003. PMID: 27203299
Pietschmann P, Kerschan-Schindl K
Wien Med Wochenschr 2004 Sep;154(17-18):411-5. doi: 10.1007/s10354-004-0100-1. PMID: 15552228
Nagata C, Kabuto M, Kurisu Y, Shimizu H
Nutr Cancer 1997;29(3):228-33. doi: 10.1080/01635589709514629. PMID: 9457744

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