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Leydig Cell Hypoplasia

46,XY DSD due to Partial LH Resistance


  • We describe the case of a 5-year-old patient with DSD, presenting with a lateral inguinal hernia accompanied by abnormal hormone tests.[ncbi.nlm.nih.gov]
  • To further investigate the variety of LH receptor gene mutations present in LCH patients and their influence on the phenotype, we examined 10 nonrelated patients with the clinical presentation of LCH.[ncbi.nlm.nih.gov]
  • Biochemical and histologic evidence for such diagnosis is presented.[ncbi.nlm.nih.gov]
  • Here, we detail the clinical presentation of one subject with complete male pseudohermaphroditism and LCH.[ncbi.nlm.nih.gov]
  • One patient was the offspring of consanguineous parents and 2 siblings presented as women with a lack of breast development and primary amenorrhea. Gonads were palpable in the inguinal canal, except for the right intra-abdominal testis in 1 patient.[ncbi.nlm.nih.gov]
  • Similar reduction in cAMP accumulation was observed in transfectants expressing hLHR-1847, but not hLHR-872 alone.[ncbi.nlm.nih.gov]
  • All mutant LHRs exhibited severe defects, including loss of ligand binding and cAMP production. Immunoblots showed little difference in protein levels between the WT and mutant receptors.[ncbi.nlm.nih.gov]
  • Surface expression of the truncated hLHR (hLHR-t545) in human embryonic kidney cells stably transfected with cDNA encoding hLHR-t545 was diminished compared to the wild-type hLHR and hCG-induced cAMP accumulation was impaired.[ncbi.nlm.nih.gov]
  • In vitro, in contrast to cells expressing a normal LHR, cells transfected with the mutant cDNA exhibit neither surface binding of radiolabeled hCG nor cAMP generation.[ncbi.nlm.nih.gov]
  • Expression study of the mutated hLHR in human embryonic kidney (HEK)293 cells showed reduced cAMP production and ligand binding.[ncbi.nlm.nih.gov]
Inguinal Mass
  • The examination showed breast development on Tanner’s stage III, sparse pubic hair, female external genitalia and single, bilateral inguinal masses. Chromosome study revealed to be a 46XY individual.[endocrine-abstracts.org]
  • Discussion Abnormalities of sex differentiation should not only be suspected in infants with ambiguous genitalia but also in apparent females with clitoromegaly ( 0.9 cm in length), or presence of posterior labioscrotal fusion, inguinal masses, or an[academic.oup.com]
  • Lawrence-Moon-bardet-Biedl tumors Histiocytosis Brain irradiation malnutrition SECONADRY AMENORRHEA Postpubertal tumors of hypothalamus Anorexia nervosa Post-pill amenorrhea Stress induced amenorrhea Induced by exercise 38 PRIMARY AMENORRHEA SECONDARY[slideplayer.com]
Increased Body Hair
  • 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.[rarediseases.info.nih.gov]
  • 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.[ghr.nlm.nih.gov]
Normal Hair
  • Oman Bhat and Hamdi (2005) reported a 20-year old married female with normal external genitalia, under developed breasts and normal hair distribution, who presented with primary amenorrhea.[cags.org.ae]


  • […] of specialists often work together to identify treatment options for a person with LCH.[rarediseases.info.nih.gov]
  • Treatment of the mutant LH receptor with N-glycosidase F or endoglycosidase-H demonstrated that the mutant receptor is retained in the endoplasmic reticulum.[ncbi.nlm.nih.gov]
  • This could not be rescued by small-molecule agonist treatment or stimulated intracellularly by co-expression of a yoked human chorionic gonadotrophin.[ncbi.nlm.nih.gov]
  • CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes.[diseaseinfosearch.org]
  • The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.[orpha.net]


  • Identification of the correct molecular genetic defect will enhance prognosis and the design of the most appropriate treatment modality.[doi.org]


  • Etiology is usually unknown. Sperm counts may be slightly low if one testis is undescended but are almost always very low if both are undescended.[merckmanuals.com]
  • In: Sexual Precocity: Etiology, Diagnosis, and Management. Eds. Grave GD, Cutler GB Jr. Raven Press, NY 1-10 (1993) 44. S. Berttelloni, G. I. Baroncelli, R. Lala,. M. Cappa, P. Matarazzo, C. de Samctos & G.[doi.org]
  • All recommend excluding possible other etiologies of these signs/symptoms and more than one of the signs or symptoms must be present to make a diagnosis.[slideplayer.com]


  • Orphanet): - Rare developmental defect during embryogenesis - Rare endocrine disease - Rare genetic disease - Rare infertility - Rare urogenital disease Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities - Epidemiological[csbg.cnb.csic.es]
  • Relevant External Links for LHCGR Genetic Association Database (GAD) LHCGR Human Genome Epidemiology (HuGE) Navigator LHCGR Atlas of Genetics and Cytogenetics in Oncology and Haematology: LHCGR No data available for Genatlas for LHCGR Gene Luteinizing[genecards.org]
Sex distribution
Age distribution


  • Gonadotropin-releasing hormone deficiency in the human (idiopathic hypogonadotropic hypogonadism and Kallmann's syndrome): pathophysiological and genetic considerations. Endocr Rev. 1998; 19 521-539 4 Hardelin J P.[doi.org]
  • Miller The pathophysiology and genetics of congenital lipoid adrenal hyperplasia [34.] O. Hiort, P.M. Holterhus, R. Werner, C. Marschke, U. Hoppe, C.J.[apcontinuada.com]
  • References 1 2000 Mutations of gonadotropins and gonadotropin receptors: elucidating the physiology and pathophysiology of pituitary-gonadal function.[academic.oup.com]
  • In the adipose tissue it is and increased aromatisation of peripheral androgens with increase extraovarian production of estradiol that in turn decreases FSH and rezults in chronic anovulation. 51 Polycystic ovary disease (syndrome) pathophysiology Irrespective[slideplayer.com]


  • Mutations that prevent the production of any functional receptor protein cause the more severe features of Leydig cell hypoplasia , and mutations that allow some receptor protein function cause milder signs and symptoms.[ghr.nlm.nih.gov]
  • Leydig cell agenesis Leydig Cell Hypoplasia Get Update Overview Leydig cell hypoplasia is an autosomal recessive disorder in which loss of function of the LHCGR gene in the male prevents normal sexual development.[diseaseinfosearch.org]
  • National Suicide Prevention Lifeline at 800-273-TALK (800-273-8255) is a 24-hour, toll-free, confidential suicide prevention hotline available to anyone in suicidal crisis or emotional distress.[jamespatemd.com]
  • These compounds are useful tools in basic biomedical research and may be further developed for the treatment, prevention, or diagnosis of disease.[leibniz-fmp.de]

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