Leydig cell hypoplasia

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Other Names:

46,XY disorder of sex development due to LH resistance or LHB deficiency; 46,XY disorder of sex development due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency; 46,XY DSD due to LH resistance or LHB deficiency; 46,XY disorder of sex development due to LH resistance or LHB deficiency; 46,XY disorder of sex development due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency; 46,XY DSD due to LH resistance or LHB deficiency; 46,XY DSD due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency; Male pseudohermaphroditism due to LH resistance or LHB deficiency; Male pseudohermaphroditism due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency; Leydig cell agenesis; 46,XY disorder of sex development due to LH defects; LH resistance due to LH receptor deactivation; Male hypergonadotropic hypogonadism due to LHCGR defect See More

Summary Summary

Leydig cell hypoplasia (LCH) is a disorder that impairs male sexual development. It causes incomplete development of Leydig cells, which are cells in the testicles (testes) that secrete male sex hormones (androgens). These hormones are needed for normal male sexual development as reproductive organs are forming (before birth), as well as during puberty. A genetic male with LCH has typical male chromosomes (46, XY), but due to low androgen levels, may have a range of genital differences.^[1]^[2]^[3]

In a genetic male with LCH, the external genitalia may not look clearly male or female (ambiguous genitalia). Specific features of LCH may include a small penis (micropenis), a urethra opening (hole) on the underside of the penis rather than at the tip (hypospadias), and a scrotum that is divided into two halves (bifid scrotum). A person with a severe form of LCH may have only female external genitalia, and small undescended testes (located in the pelvis, abdomen, or groin).^[1]^[3] Males with severe LCH may not develop secondary sex characteristics during puberty, such as increased body hair, facial hair, and a deeper voice.^[2]

LCH is caused by mutations in the LHCGR gene and inheritance is autosomal recessive.^[1]^[2] There is no standard treatment for LCH. Treatment depends on the features and severity in each person and may include hormone therapy; surgery for undescended testes, removal of testes, or to correct genital differences; and assisted reproductive technology for infertility.^[3]^[4] A team of specialists often work together to identify treatment options for a person with LCH.

Of note: Genetic females (46, XX) can also inherit the mutations that cause LCH in males. Genetic females with these mutations have normal female external genitalia and normal female development during puberty, but may have amenorrhea (absent periods) and infertility.^[5]

Last updated: 2/12/2018

Symptoms Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms	Other Names	Learn More: HPO ID
80%-99% of people have these symptoms
Absence of secondary sex characteristics		0008187
Ambiguous genitalia	Ambiguous external genitalia Ambiguous external genitalia at birth Intersex genitalia [ more ]	0000062
Aplasia of the uterus	Absent uterus uterus absent [ more ]	0000151
Breast aplasia	Absent breast	0100783
Cryptorchidism	Undescended testes Undescended testis [ more ]	0000028
Decreased serum testosterone level	Decreased serum testosterone levels Low serum testosterone level Low serum testosterone levels [ more ]	0040171
Delayed skeletal maturation	Delayed bone maturation Delayed skeletal development [ more ]	0002750
Female hypogonadism		0000134
Hyoplasia of the Leydig cells		0010790
Hypergonadotropic hypogonadism		0000815
Hypospadias		0000047
Increased circulating gonadotropin level	Elevated gonadotropins Elevated serum gonadotropins Gonadotropin excess [ more ]	0000837
Male hypogonadism	Decreased function of male gonad	0000026
Male pseudohermaphroditism		0000037
Micropenis	Short penis Small penis [ more ]	0000054
Primary amenorrhea		0000786
Primary gonadal insufficiency		0008193
5%-29% of people have these symptoms
Abnormal vas deferens morphology		0012872
Secondary amenorrhea	Previous menstrual periods stop	0000869
Testicular gonadoblastoma		0000030
Percent of people who have these symptoms is not available through HPO
Autosomal recessive inheritance		0000007

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Last updated: 1/1/2021

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Diagnosis Diagnosis

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Find a Specialist Find a Specialist

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Research Research

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Patient Registry

A registry supports research by collecting of information about patients that share something in common, such as being diagnosed with Leydig cell hypoplasia. The type of data collected can vary from registry to registry and is based on the goals and purpose of that registry. Some registries collect contact information while others collect more detailed medical information. Learn more about registries.

Registries for Leydig cell hypoplasia:
Infertility Family Research Registry (IFRR)

Organizations Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

Accord Alliance
531 Route 22 East #244
Whitehouse Station, NJ 08889
Telephone: 908-349-0534
Fax: 801-349-0534
E-mail: http://www.accordalliance.org/contact/email-us.html
Website: http://www.accordalliance.org/
AIS-DSD Support Group
P.O. Box 2148
Duncan, OK 75354-2148
E-mail: http://aisdsd.org/contact
Website: http://www.aisdsd.org/

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Learn More Learn More

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

Genetics Home Reference (GHR) contains information on Leydig cell hypoplasia. This website is maintained by the National Library of Medicine.

General Information

The website for the University of Michigan Health System provides general information on Disorders/Differences of Sex Development (DSD)

In-Depth Information

The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.

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References References

Leydig cell hypoplasia. Genetics Home Reference. April 2010; https://ghr.nlm.nih.gov/condition/leydig-cell-hypoplasia.
O'Neill MJF. LEYDIG CELL HYPOPLASIA, TYPE I. Online Mendelian Inheritance in Man (OMIM). March 31, 2015; 3/31/2015.
Bakircioglu ME, Tulay P, Findikli N, Erzik B, Gultomruk M, Bahceci M. Successful testicular sperm recovery and IVF treatment in a man with Leydig cell hypoplasia. J Assist Reprod Genet. Jul 31, 2014; 31(7):817-821. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4096883/.
Xu Y, Chen Y, Li N, et al. Novel compound heterozygous variants in the LHCGR gene identified in a subject with Leydig cell hypoplasia type 1. J Pediatr Endocrinol Metab. January 26, 2018; 31(2):239-245. https://www.ncbi.nlm.nih.gov/pubmed/29305568.
Sperling MA. Chapter 5 - Ambiguous genitalia : Summary of Disorders Associated with Ambiguous Genitalia. In: Witchel SF, Lee PA. Pediatric Endocrinology (Fourth Edition). Philadelphia, PA: Elsevier, Inc; 2014; 107-156.