Presentation
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]
For each presented case and phenotype, a full medical report will be produced including a tailored diagnostic strategy. [centogene.com]
Funding and Disclosures Presented at the annual meeting of the Society for Gynecologic Investigation, Chicago, March 15–18, 1995. [nejm.org]
[…] transcription of the LHCGR gene caused by a mutation in exon 6A leads to Leydig cell hypoplasia type II. ( 23232123 ) Kossack N....Gromoll J. 2013 7 Leydig cell hypoplasia due to inactivating luteinizing hormone/chorionic gonadotropin receptor gene mutation presenting [malacards.org]
Hematological
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Hemophilia A
A Severe hemophilia B Sex chromosome disorder of sex development Smith-Lemli-Opitz syndrome Sudden infant death-dysgenesis of the testes syndrome Symptomatic form of hemophilia A in female carriers Symptomatic form of hemophilia B in female carriers [se-atlas.de]
Entire Body System
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Falling
ADH reduces the sugar tolerance as well. 47 REGULATION OF SECRETION OF ADH 1: OSMOTIC REGULATION When large quantities of water are taken, plasma becomes diluted and the colloidal osmotic pressure falls. [slideplayer.com]
MyBioSource and its authorized distributors reserve the right to refuse to process any order where we reasonably believe that the intended use will fall outside of our acceptable guidelines. [mybiosource.com]
Testosterone levels fall at the onset of illness and recover during recuperation. The magnitude of gonadotropin suppression generally correlates with the severity of illness. [clinicalgate.com]
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Malnutrition
Acquired Hypogonadotropic Disorders • SEVERE ILLNESS, STRESS, MALNUTRITION, AND EXERCISE These factors may cause reversible gonadotropin deficiency. [clinicalgate.com]
Acquired Hypogonadotropic Disorders Severe Illness, Stress, Malnutrition, and Exercise These may cause reversible gonadotropin deficiency. [gynecology.blogsky.com]
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Movement Disorder
disorder TH Dystonia, L-DOPA-responsive TH Segawa syndrome TH Myocardial infarction THBD Late foetal loss THBD Thrombocythaemia, essential THPO Congenital heart defect THRAP2 Thyroid hormone resistance THRB Mohr-Tranebjaerg syndrome TIMM8A Jensen syndrome [springer.com]
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Fever
[…] with amyloidosis TNFRSF1A Periodic fever, autosomal dominant TNFRSF1A Periodic fever with AA amyloidosis TNFRSF1A Juvenile idiopathic arthritis TNFRSF1A Systemic lupus erythematosus TNFRSF1A Cardiomyopathy, dilated TNNC1 Cardiomyopathy, hypertrophic [springer.com]
Cardiovascular
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Hypertension
Klippel-Trenaunay syndrome AGGF1 Glycogen storage disease 3a AGL Glycogen storage disease 3 AGL Glycogen storage disease 3d AGL Berardinelli-Seip lipodystrophy AGPAT2 Alkyl-DHAP synthase deficiency AGPS Preeclampsia AGT Renal tubular dysgenesis AGT Hypertension [springer.com]
[…] appearence. 2:Thickening of the subcutaneous tissues of the hands, feet, nose, lips and skin. 3:Enlargement of the viscera (Heart, lungs, liver, kidney, pancreas, spleen) 4:Hyper-secretion of thyroid, adrenal, thymus and Prolactin. 5:Hyperglycemia, high BMR, hypertension [slideplayer.com]
One randomized testosterone trial in older men with mobility limitation and high burden of chronic conditions, such as diabetes, heart disease, hypertension, and hyperlipidemia, reported a greater number of cardiovascular events in men randomized to the [clinicalgate.com]
Neurologic
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Polyneuropathy
Adenomatous polyposis coli and CHRPE APC Adenomatous polyposis coli APC Colorectal cancer APC Atherosclerosis with coronary artery disease APOA1 HDL deficiency APOA1 Amyloidosis, cardiac and cutaneous APOA1 Hypoalphalipoproteinaemia APOA1 Amyloidotic polyneuropathy [springer.com]
Urogenital
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Sexual Dysfunction
For further discussion of sexual dysfunction, disorders of the prostate, and testicular cancer, see Chaps. 49, 91, 92, respectively. [gynecology.blogsky.com]
Androgen deprivation therapy in men with prostate cancer has been associated with increased risk of bone fractures, diabetes mellitus, cardiovascular events, fatigue, sexual dysfunction, and poor quality of life. [clinicalgate.com]
Treatment
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]
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]
Male Factor Infertility: Treatment Treatment options for male factor infertility have expanded greatly in recent years. Secondary hypogonadism is highly amenable to treatment with pulsatile GnRH or gonadotropins (see below). [gynecology.blogsky.com]
TREATMENT MALE FACTOR INFERTILITY Treatment options for male factor infertility have expanded greatly in recent years. Secondary hypogonadism is highly amenable to treatment with pulsatile GnRH or gonadotropins (see below). [clinicalgate.com]
Etiology
Roughly 10% of infertility cases have a genetic etiology. Known genetic causes of infertility include chromosomal aberrations, single gene variants and phenotypes with multifactorial inheritance 3. [centogene.com]
Despite extensive evaluation, the etiology is established in fewer than one-half of patients. FIGURE 411-5 Evaluation of gynecomastia. E 2, 17β-estradiol; hCGβ, human chorionic gonadotropin β; T, testosterone. [clinicalgate.com]
In spite of extensive evaluation, the etiology is established in fewer than one-half of patients. Gynecomastia: Treatment When the primary cause can be identified and corrected, breast enlargement usually subsides over several months. [gynecology.blogsky.com]
Epidemiology
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]
In epidemiologic surveys, low total and bioavailable testosterone concentrations have been associated with decreased appendicular skeletal muscle mass and strength, decreased self-reported physical function, higher visceral fat mass, insulin resistance [clinicalgate.com]
In epidemiologic studies, testosterone concentrations are inversely related to waist-to-hip ratio and directly correlated with HDL cholesterol levels. [gynecology.blogsky.com]
Pathophysiology
Reproductive endocrinology: physiology, pathophysiology, and clinical management. 3rd ed. Philadelphia: W.B. Saunders, 1991:576-630. 26. Smyth CD, Miro F, Whitelaw PF, Howles CM, Hillier SG. [nejm.org]
The pathophysiology of reproductive dysfunction during acute illness is unknown but likely involves a combination of cytokine and/or glucocorticoid effects. [clinicalgate.com]
Prevention
Leydig cell hypoplasia is an autosomal recessive disorder in which loss of function of the LHCGR gene in the male prevents normal sexual development. Two types of LCH have been defined (Toledo, 1992). [ncbi.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]
Report of the Meeting on the Prevention of Infertility at the Primary Health Care Level. WHO, Geneva; 1983. WHO/MCH/1984.4. Boivin J, Bunting L, Collins JA, & Nygren KG (2007). [centogene.com]
This mutation eliminates the last five cysteine residues in the FSH β-subunit and prevents production of FSH in vitro. [nejm.org]
Mutations in the CYP19 gene, which encodes aromatase, prevent testosterone conversion to estradiol. [clinicalgate.com]