46,XY DSD due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency
This condition is inherited in an autosomal recessive manner[1]
Leydig cell hypoplasia (or aplasia) (LCH), also known as Leydig cell agenesis, is a rare autosomal recessive genetic and endocrine syndrome affecting an estimated 1 in 1,000,000 genetic males. It is characterized by an inability of the body to respond to luteinizing hormone (LH), a gonadotropin which is normally responsible for signaling Leydig cells of the testicles to produce testosterone and other androgen sex hormones. The condition manifests itself as pseudohermaphroditism (partially or fully underdeveloped genitalia), hypergonadotropic hypogonadism (decreased or lack of production of sex steroids by the gonads despite high circulating levels of gonadotropins), reduced or absent puberty (lack of development of secondary sexual characteristics, resulting in sexual infantilism if left untreated), and infertility.[2][3]
Leydig cell hypoplasia does not occur in biological females as they do not have either Leydig cells or testicles. However, the cause of the condition in males, luteinizing hormone insensitivity, does affect females, and because LH plays a role in the female reproductive system, it can result in primary amenorrhea or oligomenorrhea (absent or reduced menstruation), infertility due to anovulation, and ovarian cysts.[2][4]
A related condition is follicle-stimulating hormone (FSH) insensitivity, which presents with similar symptoms to those of Leydig cell hypoplasia but with the symptoms in the respective sexes reversed (i.e., hypogonadism and sexual infantilism in females and merely problems with fertility in males). Despite their similar causes, FSH insensitivity is considerably less common in comparison to LH insensitivity.[5]
^"OMIM Entry - # 238320 - LEYDIG CELL HYPOPLASIA, TYPE I". omim.org. Retrieved 18 August 2017.
^ abWu SM, Leschek EW, Rennert OM, Chan WY (March 2000). "Luteinizing hormone receptor mutations in disorders of sexual development and cancer". Frontiers in Bioscience. 5: D343–52. doi:10.2741/wu. PMID 10704433.
^Eberhard Nieschlag; Hermann M. Behre; Susan Nieschlag (3 December 2009). Andrology: Male Reproductive Health and Dysfunction. Springer. p. 224. ISBN 978-3-540-78354-1. Retrieved 5 June 2012.
^Arnhold IJ, Latronico AC, Batista MC, Mendonca BB (April 1999). "Menstrual disorders and infertility caused by inactivating mutations of the luteinizing hormone receptor gene". Fertility and Sterility. 71 (4): 597–601. doi:10.1016/s0015-0282(98)00517-2. PMID 10202864.
^Mark A. Sperling (25 April 2008). Pediatric Endocrinology E-Book. Elsevier Health Sciences. p. 35. ISBN 978-1-4377-1109-7. Retrieved 10 June 2012.
and 20 Related for: Leydig cell hypoplasia information
Leydigcellhypoplasia (or aplasia) (LCH), also known as Leydigcell agenesis, is a rare autosomal recessive genetic and endocrine syndrome affecting an...
testicular development (testicular dysgenesis), Klinefelter syndrome, Leydigcellhypoplasia, specific defects of testosterone or dihydrotestosterone synthesis...
of LH and FSH in the blood. LH insensitivity, which results in Leydigcellhypoplasia in males, and FSH insensitivity, are conditions of insensitivity...
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substance affects Sertoli and Leydigcell differentiation (a common feature of TDS disorders) at an early developmental stage, germ cell growth and testosterone...
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U, Bilgiç R, Mert M (January 2010). "Incidental detection of Sertoli-Leydigcell tumor by FDG PET/CT imaging in a patient with androgen insensitivity...
or cancer, and allows for the overall assessment of the interstitium (Leydigcell number and hypertrophy). Levin described a qualitative method of assessing...
testicular hypoplasia. Male to female sex reversal, however, does not occur because Leydigcells remain normal. They are maintained by steroidogenic cells, now...
U, Bilgiç R, Mert M (January 2010). "Incidental detection of Sertoli-Leydigcell tumor by FDG PET/CT imaging in a patient with androgen insensitivity...
testes are completely atrophied by 150 days of age. Also, the testes show Leydigcell hyperplasia, which is due to the increased levels of LH and intratesticular...
Fang VS, Landau RL, Rosenfield R (December 1978). "Direct inhibition of Leydigcell function by estradiol". J. Clin. Endocrinol. Metab. 47 (6): 1368–73....
defects in the cardiac septum separating the atria and ventricles, and hypoplasia of the ventricular myocardium. As seen from the abnormalities from deletion...
Fang VS, Landau RL, Rosenfield R (December 1978). "Direct inhibition of Leydigcell function by estradiol". J. Clin. Endocrinol. Metab. 47 (6): 1368–73....
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