Leydig cell hypoplasia
Last updated 26 Oct 2023
Meets Patient’s editorial guidelines
- DownloadDownload
- Share
- Language
- Discussion
- Audio Version
- Add to preferred sources on Google
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.
Description
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.
Inheritance patterns
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
Related patient information and medicines
Patient information leaflet
Primary bone cancer
The... Treatments which may be considered include surgery, chemotherapy and radiotherapy. The type of treatment used and the outlook depend on various factors including the type, site and stage of the cancer. Understanding bone Bone is a living tissue. The hard bone tissue is made of tough, elastic fibres (collagen fibres) and gritty, hard.
Patient information leaflet
Cervical screening
Cervical screening tests are not used to diagnose cancer. What is cervical screening. Cervical screening looks for the human papillomavirus (HPV) which can cause abnormal cells on the cervix. Cervical screening samples are tested for types of HPV that can cause cervical cancer. Cervical screening is a free service on the NHS. Trans men do not.
Patient information leaflet
The immune system
The immune system is made up of non-specialised defences such as your skin (acting as a barrier) and strong acid stomach juices. However it also has some highly specialised defences which give you resistance to particular pathogens. Another name for this resistance is immunity. These defences are special white blood cells called lymphocytes. Other.
Patient information leaflet
Wilms' tumour
A Wilms' tumour is a type of kidney cancer that usually affects young children. Wilms' tumours can appear in older children and adults but this is very rare. A Wilms' tumour is also known ... Congenital mesoblastic nephroma is a non-cancerous (benign) tumour that occurs in very young children. See separate leaflet called Cancer - A General.
Patient information leaflet
Barrett's oesophagus
In Barrett's oesophagus the cells that line the lower gullet (oesophagus) are abnormal. The main cause is long-standing reflux of acid from the stomach into the oesophagus. People with Barrett's oesophagus have an increased risk of developing cancer of the oesophagus. The risk is small. However, you may be advised to have regular endoscopies to.
Patient information leaflet
Bone marrow biopsy and aspiration
A bone marrow biopsy is a procedure where a sample of tissue is taken from the inside of a bone. What is bone marrow, biopsy and aspiration. Bone marrow is the spongy tissue and fluid which is inside some of the larger bones in the body. The marrow is where you make red blood cells, white blood cells, and platelets from cells called 'stem cells'..
Further reading and references
- 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.
Join the conversation
Share your thoughts or experiences with others in our patient communities.
Ask, share, connect.
Browse discussions, ask questions, and share experiences across hundreds of health topics.
Sign up to the Patient newsletter
Your weekly dose of clear, trustworthy health advice - written to help you feel informed, confident and in control.
By subscribing you accept our Privacy Policy. You can unsubscribe at any time. We never sell your data.