Leydig cell hypoplasia
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Leydig cell hypoplasia is a condition that affects male sexual development. It is characterised by underdevelopment (hypoplasia) of Leydig cells in the testes. Leydig cells secrete male sex hormones (androgens) that are important for normal male sexual development before birth and during puberty.
Descrição
Leydig cell hypoplasia is a condition that affects male sexual development. It is characterised by underdevelopment (hypoplasia) of Leydig cells in the testes. Leydig cells secrete male sex hormones (androgens) that are important for normal male sexual development before birth and during puberty.
In Leydig cell hypoplasia, affected individuals with a typical male chromosomal pattern (46,XY) may have a range of genital abnormalities. Affected males may have a small penis (micropenis), the opening of the urethra on the underside of the penis (hypospadias), or a scrotum divided into two lobes (bifid scrotum). Because of these abnormalities, the external genitalia may not look clearly male or clearly female.
In more severe cases of Leydig cell hypoplasia, people with a typical male chromosomal pattern (46,XY) have female external genitalia. They have small testes that are undescended, which means they are abnormally located in the pelvis, abdomen, or groin. People with this form of the disorder do not develop secondary sex characteristics, such as increased body hair, at puberty. Some researchers refer to this form of Leydig cell hypoplasia as type 1 and designate less severe cases as type 2.
Padrões de herança
The source lists the following possible inheritance patterns: Autosomal recessive. More than one pattern can apply in different cases.
Related genes
Other names
46,XY disorder of sex development due to LH defects
LCH
Leydig cell agenesis
LH resistance due to LH receptor deactivation
Male hypergonadotropic hypogonadism due to LHCGR defect
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Leitura adicional e referências
- Leydig cell hypoplasia; MedlinePlus, National Library of Medicine.
- Kossack N, Simoni M, Richter-Unruh A, Themmen AP, Gromoll J. Mutations in a novel, cryptic exon of the luteinizing hormone/chorionic gonadotropin receptor gene cause male pseudohermaphroditism. PLoS Med. 2008 Apr 22;5(4):e88. doi: 10.1371/journal.pmed.0050088.
- Qiao J, Han B, Liu BL, Chen X, Ru Y, Cheng KX, Chen FG, Zhao SX, Liang J, Lu YL, Tang JF, Wu YX, Wu WL, Chen JL, Chen MD, Song HD. A splice site mutation combined with a novel missense mutation of LHCGR cause male pseudohermaphroditism. Hum Mutat. 2009 Sep;30(9):E855-65. doi: 10.1002/humu.21072.
- Themmen AP, Verhoef-Post M. LH receptor defects. Semin Reprod Med. 2002 Aug;20(3):199-204. doi: 10.1055/s-2002-35384.
- Wu SM, Chan WY. Male pseudohermaphroditism due to inactivating luteinizing hormone receptor mutations. Arch Med Res. 1999 Nov-Dec;30(6):495-500. doi: 10.1016/s0188-4409(99)00074-0.
- Wu SM, Leschek EW, Rennert OM, Chan WY. Luteinizing hormone receptor mutations in disorders of sexual development and cancer. Front Biosci. 2000 Mar 1;5:D343-52. doi: 10.2741/wu.
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