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]

The documents contained in this web site are presented for information purposes only. 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]

• Camping

  Similar reduction in cAMP accumulation was observed in transfectants expressing hLHR-1847, but not hLHR-872 alone. [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]

• Malnutrition

  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]

• 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]

• Suggestibility

  In conclusion, the in vitro studies suggest that residues in the seventh transmembrane domain and cytoplasmic tail are important for receptor binding and activation without playing a major role in receptor cellular trafficking. [ncbi.nlm.nih.gov]

  The MRI showed an image suggestive of vagina and in the inguinal regions images suggestive of testicles, ovaries were not identified. [endocrine-abstracts.org]

Detailed descriptions of pediatric testicular biopsy (for example in the workup of ambiguous genitalia) and semen analysis are beyond the scope of this review. [propath.com]

CT scanning of the abdomen and chest radiography: Indicated if malignancy is suspected See Workup for more detail. Management Radical orchiectomy was once the primary treatment for Leydig cell tumors, and it remains in use for malignant cases. [emedicine.medscape.com]

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]

[…] of specialists often work together to identify treatment options for a person with LCH. [rarediseases.info.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]

Rapidly consult with trusted authorities thanks to new expert-opinion treatment strategies and recommendations. Zero in on the most relevant and useful references with the aid of a more focused, concise bibliography. [books.google.com]

Prognosis Advanced patient age is associated with a poorer prognosis. [emedicine.medscape.com]

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]

The etiology of Leydig cell tumors remains unknown. Unlike germ cell testicular tumors, Leydig cell neoplasms are not associated with cryptorchidism. It is thought that an endocrine role may contribute to the development of these tumors. [emedicine.medscape.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]

Epidemiology Frequency In the United States, Leydig cell testicular neoplasms are the most common sex cord–stromal tumors and comprise 1-3% of all testicular neoplasms. [10] However, a study in Austria demonstrated of all patients that are undergoing [emedicine.medscape.com]

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]

Background Pathophysiology A German anatomist, Franz Leydig, first described Leydig cells in 1870. [9] Leydig cells are located within the interstitium of the testis, between the seminiferous tubules, and produce testosterone in response to luteinizing [emedicine.medscape.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]