PrepTutorEJDIC

〈U〉〈C〉(…の)(量・額などの)不足,欠乏《+『of』(『in』)+『名』》 / 〈C〉不足分,不足量,不足額 / 〈C〉(精神・肉体などの)欠陥

Wikipedia preview

出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2018/03/22 07:19:21」(JST)

wiki en

Isolated 17,20-lyase deficiency (ILD), also called isolated 17,20-desmolase deficiency, is a rare endocrine and autosomal recessive genetic disorder which is characterized by a complete or partial loss of 17,20-lyase activity and, in turn, impaired production of the androgen and estrogen sex steroids. The condition manifests itself as pseudohermaphroditism (partially or fully underdeveloped genitalia) in males, in whom it is considered to be a form of intersex, and, in both sexes, as a reduced or absent puberty/lack of development of secondary sexual characteristics, resulting in a somewhat childlike appearance in adulthood (if left untreated).^[1]^[2]^[3]^[4]

Unlike the case of combined 17α-hydroxylase/17,20-lyase deficiency, isolated 17,20-lyase deficiency does not affect glucocorticoid production (or mineralocorticoid levels), and for that reason, does not result in adrenal hyperplasia or hypertension.^[1]^[3]

Symptoms

The symptoms of isolated 17,20-lyase deficiency, in males, include pseudohermaphroditism (i.e., feminized, ambiguous, or mildly underdeveloped (e.g., micropenis, perineal hypospadias, and/or cryptorchidism (undescended testes)) external genitalia), female gender identity, and, in non-complete cases of deficiency where partial virilization occurs, gynecomastia up to Tanner stage V (due to low androgen levels, which results in a lack of suppression of estrogen); in females, amenorrhoea or, in cases of only partial deficiency, merely irregular menses, and enlarged cystic ovaries (due to excessive stimulation by high levels of gonadotropins); and in both sexes, hypergonadotropic hypogonadism (hypogonadism despite high levels of gonadotropins), delayed, impaired, or fully absent adrenarche and puberty with an associated reduction in or complete lack of development of secondary sexual characteristics (sexual infantilism), impaired fertility or complete sterility, tall stature (due to delayed epiphyseal closure), eunuchoid skeletal proportions, delayed or absent bone maturation, and osteoporosis.^[1]^[3]^[4]^[5]

Cause

Isolated 17,20-lyase deficiency is caused by genetic mutations in the gene CYP17A1, which encodes for 17,20-lyase, while not affecting 17α-hydroxylase, which is encoded by the same gene.^[2]^[4]^[6]

Observed physiological abnormalities of the condition include markedly elevated serum levels of progestogens such as progesterone and 17α-hydroxyprogesterone (due to upregulation of precursor availability for androgen and estrogen synthesis), very low or fully absent peripheral concentrations of androgens such as dehydroepiandrosterone (DHEA), androstenedione, and testosterone and estrogens such as estradiol (due to the lack of 17,20-lyase activity, which is essential for their production), and high serum concentrations of the gonadotropins, follicle-stimulating hormone (FSH) and luteinizing hormone (LH) (due to a lack of negative feedback on account of the lack of sex hormones).^[5]^[7]

Diagnosis

Treatment

Males and females may be treated with hormone replacement therapy (i.e., with androgens and estrogens, respectively), which will result in normal sexual development and resolve most symptoms. In the case of 46,XY (genetically male) individuals who are phenotypically female and/or identify as the female gender, they should be treated with estrogens instead. Removal of the undescended testes should be performed in 46,XY females to prevent their malignant degeneration, whereas in 46,XY males surgical correction of the genitals is generally required, and, if necessary, an orchidopexy (relocation of the undescended testes to the scrotum) may be performed as well.^[2] Namely in genetic females presenting with ovarian cysts, GnRH analogues may be used to control high FSH and LH levels if they are unresponsive to estrogens.^[7]

References

^ ^a ^b ^c "Chapter 11 – 46,XY Disorders of Sexual Development". Pediatric Endocrinology. Retrieved 2012-05-25.
^ ^a ^b ^c Marschall Stevens Runge; Cam Patterson (20 June 2006). Principles of Molecular Medicine. Humana Press. p. 483. ISBN 978-1-58829-202-5. Retrieved 25 May 2012.
^ ^a ^b ^c Stuart Handwerger (26 February 1999). Molecular and Cellular Pediatric Endocrinology. Humana Press. pp. 148–. ISBN 978-0-89603-406-8. Retrieved 25 May 2012.
^ ^a ^b ^c Miller WL (January 2012). "The syndrome of 17,20 lyase deficiency". The Journal of Clinical Endocrinology and Metabolism. 97 (1): 59–67. doi:10.1210/jc.2011-2161. PMC 3251937 . PMID 22072737.
^ ^a ^b Simsek E, Ozdemir I, Lin L, Achermann JC (May 2005). "Isolated 17,20-lyase (desmolase) deficiency in a 46,XX female presenting with delayed puberty". Fertility and Sterility. 83 (5): 1548–51. doi:10.1016/j.fertnstert.2004.11.063. PMID 15866602.
^ J. I. Mason (23 May 2002). Genetics of Steroid Biosynthesis and Function. CRC Press. p. 278. ISBN 978-0-415-27878-2. Retrieved 25 May 2012.
^ ^a ^b ten Kate-Booij MJ, Cobbaert C, Koper JW, de Jong FH (February 2004). "Deficiency of 17,20-lyase causing giant ovarian cysts in a girl and a female phenotype in her 46,XY sister: case report". Human Reproduction (Oxford, England). 19 (2): 456–9. PMID 14747197.

External links

UpToDate Contents

全文を閲覧するには購読必要です。 To read the full text you will need to subscribe.

1. 原発性無月経の原因 causes of primary amenorrhea
2. まれな先天性副腎過形成 uncommon congenital adrenal hyperplasias
3. 小児における原発性副腎不全の原因および臨床症状 causes and clinical manifestations of primary adrenal insufficiency in children
4. 非定型生殖器（性分化疾患）を有する乳児の評価 evaluation of the infant with atypical genitalia disorder of sex development
5. 思春期に生じる多嚢胞性卵巣症候群の診断的評価 diagnostic evaluation of polycystic ovary syndrome in adolescents

English Journal

A novel CYP17A1 deletion causes a functional knockout of the steroid enzyme 17-hydroxylase and 17,20-lyase in a Turkish family and illustrates the precise role of the CYP17A1 gene.

Camats N1, Üstyol A2, Atabek ME2, Dick B3, Flück CE1.
Clinical case reports.Clin Case Rep.2015 Oct;3(10):793-7. doi: 10.1002/ccr3.343. Epub 2015 Aug 26.
A novel homozygous long-range deletion of the CYP17A1 gene abolished protein expression and caused the severest form of 17-hydroxylase deficiency in one kindred of a Turkish family. The affected subjects presented with 46,XY sex reversal and 46,XX lack of pubertal development as well as severe hyper
PMID 26509008

Untreated Congenital Adrenal Hyperplasia with 17-α Hydroxylase/17,20-Lyase Deficiency Presenting as Massive Adrenocortical Tumor.

Lee SJ1, Song JE1, Hwang S1, Lee JY1, Park HS1, Han S1, Rhee Y2.
Endocrinology and metabolism (Seoul, Korea).Endocrinol Metab (Seoul).2015 Sep;30(3):408-13. doi: 10.3803/EnM.2015.30.3.408. Epub 2015 Aug 4.
Congenital adrenal hyperplasia (CAH) with 17α-hydroxylase/17,20-lyase deficiency is usually characterized by hypertension and primary amenorrhea, sexual infantilism in women, and pseudohermaphroditism in men. hypertension, and sexual infantilism in women and pseudohermaphroditism in men. In rare ca
PMID 26248854

New compound heterozygous mutations of p. Thr101Ilefs 2 and p. Thr306Ale in a child from a Chinese family with 17α-hydroxylase/17, 20-lyase deficiency.

Xiao H1, Zhang H1, Li T1, Wu D1, Qin LT1, Wang T1, Zhang B1, Liao SX1.
Genetics and molecular research : GMR.Genet Mol Res.2015 Aug 10;14(3):9318-24. doi: 10.4238/2015.August.10.12.
We determined whether a child with 17α-hydroxylase/17, 20-lyase deficiency possessed the sex-determining region (SRY) gene, and examined the mutations present in the CYP17A1 gene that led to 17α-hydroxylase/17, 20-lyase deficiency. In the child, karyotype analysis was performed and polymerase chai
PMID 26345865

Japanese Journal

A 68-Year-Old Phenotypically Male Patient with 21-Hydroxylase Deficiency and Concomitant Adrenocortical Neoplasm Producing Testosterone and Cortisol

The Tohoku Journal of Experimental Medicine 231(2), 75-84, 2013
NAID 130004720753

Abnormal steroidogenesis in three patients with Antley-Bixler syndrome : Apparent decreased activity of 17α-hydroxylase, 17,20-lyase and 21-hydroxylase

Pediatrics international : official journal of the Japan Pediatric Society 46(5), 583-589, 2004-10-01
NAID 10016544012

Induction of endometrial cycles and ovulation in a woman with combined 17-(-hydoxylase/17,20-Lyase Deficiency due to compound heterozygous mutations on the P45017( gene

Fertility and Sterility 73, 1183-1186, 2000
NAID 30007626542

★リンクテーブル★

リンク元	「17,20-リアーゼ欠損症」
関連記事	「deficiency」

「17,20-リアーゼ欠損症」

Classification	V · T · D ICD-10: E29.1; OMIM: 202110;
External resources	Orphanet: 90796;

Isolated 17,20-lyase deficiency
Synonyms	46,XY disorder of sex development due to isolated 17,20-lyase deficiency
	This condition is inherited via an autosomal recessive manner
	[edit on Wikidata]

　　[★]

英: 17,20-lyase deficiency
同: デスモラーゼ欠損症 desmolase deficiency

「deficiency」

　　[★]

n.

不足、欠乏、欠失、欠如、欠損、不十分。栄養不足、栄養素欠乏、欠乏症。(遺伝子)(染色体内の)遺伝子欠失
欠けているもの、不足している物。不足分。不完全なもの、欠点のあるもの

関: absence, agenesis, dearth, defect, defective, deficient, deficit, delete, deletion, deletional, depletion, deprivation, deprive, lack, miss, missing, morphological defect, paucity, scarce, scarcity, starve

[EndoTextPediatrics-1] "Chapter 11 – 46,XY Disorders of Sexual Development". Pediatric Endocrinology. Retrieved 2012-05-25.

[RungePatterson2006-2] Marschall Stevens Runge; Cam Patterson (20 June 2006). Principles of Molecular Medicine. Humana Press. p. 483. ISBN 978-1-58829-202-5. Retrieved 25 May 2012.

[Handwerger1999-3] Stuart Handwerger (26 February 1999). Molecular and Cellular Pediatric Endocrinology. Humana Press. pp. 148–. ISBN 978-0-89603-406-8. Retrieved 25 May 2012.

[pmid22072737-4] Miller WL (January 2012). "The syndrome of 17,20 lyase deficiency". The Journal of Clinical Endocrinology and Metabolism. 97 (1): 59–67. doi:10.1210/jc.2011-2161. PMC 3251937 . PMID 22072737.

[pmid15866602-5] Simsek E, Ozdemir I, Lin L, Achermann JC (May 2005). "Isolated 17,20-lyase (desmolase) deficiency in a 46,XX female presenting with delayed puberty". Fertility and Sterility. 83 (5): 1548–51. doi:10.1016/j.fertnstert.2004.11.063. PMID 15866602.

[Mason2002-6] J. I. Mason (23 May 2002). Genetics of Steroid Biosynthesis and Function. CRC Press. p. 278. ISBN 978-0-415-27878-2. Retrieved 25 May 2012.

[pmid14747197-7] ten Kate-Booij MJ, Cobbaert C, Koper JW, de Jong FH (February 2004). "Deficiency of 17,20-lyase causing giant ovarian cysts in a girl and a female phenotype in her 46,XY sister: case report". Human Reproduction (Oxford, England). 19 (2): 456–9. PMID 14747197.

匿名

検索

案内

案内

17,20-lyase deficiency