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Hypergonadotropic Hypogonadism

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1. A homozygous G insertion in MPLKIP leads to TTDN1 with the hypergonadotropic hypogonadism symptom. (PubMed)

A homozygous G insertion in MPLKIP leads to TTDN1 with the hypergonadotropic hypogonadism symptom. Trichothiodystrophy nonphotosensitive 1 (TTDN1) is a disease with mental retardation, brittle hair. Some cases of the diseases are caused by mutations of the MPLKIP gene.We carefully identified the clinic characteristics, the sulfur level and pattern of the hair shafts of a female patient of with the symptom of hypergonadotropic hypogonadism, and of her parents and brother whose are healthy. We (...) mutation, but are healthy. The hair shafts of the patient had a tiger-tail pattern with relatively low sulfur levels. To the best of our knowledge, this is the first report that autosomal recessive inheritance of the G insertion in the MPLKIP gene results in TTDN1.Our results indicate that the homozygotic G insertion in MPLKIP results in the TTDN1 with hypergonadotropic hypogonadism, while heterozygous carriers of the same mutation have no symptoms and healthy. These results provide novel insights

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2018 BMC Medical Genetics

2. Hypergonadotropic Hypogonadism

Hypergonadotropic Hypogonadism Hypergonadotropic Hypogonadism Toggle navigation Brain Head & Neck Chest Endocrine Abdomen Musculoskeletal Skin Infectious Disease Hematology & Oncology Cohorts Diagnostics Emergency Findings Procedures Prevention & Management Pharmacy Resuscitation Trauma Emergency Procedures Ultrasound Cardiovascular Emergencies Lung Emergencies Infectious Disease Pediatrics Neurologic Emergencies Skin Exposure Miscellaneous Abuse Cancer Administration 4 Hypergonadotropic (...) Hypogonadism Hypergonadotropic Hypogonadism Aka: Hypergonadotropic Hypogonadism , Hypergonadotropic Causes of Delayed Puberty , Hypergonadotropic Causes of Primary Amenorrhea , Sexual Infantilism due to Gonadotropin Excess , Primary Hypogonadism From Related Chapters II. Definition: Hypergonadotropic Hypogonadism Defective development of ovaries or Associated with excess pituitary gonadotropin secretion Results in delayed and growth delay III. Etiology Gonads deficient in sex hormone production produce

2018 FP Notebook

3. Bone Mineral Density in Adolescent Girls with Hypogonadotropic and Hypergonadotropic Hypogonadism (PubMed)

Bone Mineral Density in Adolescent Girls with Hypogonadotropic and Hypergonadotropic Hypogonadism Deficiency of sex steroids has a negative impact on bone mineral content. In studies conducted on postmenopausal women and animal studies, elevated follicle-stimulating hormone (FSH) levels were found to be correlated with a decrease in bone mineralization and osteoporosis. The aim of the present study was to evaluate bone mineral density (BMD) in adolescent girls with hypogonadotropic (...) and hypergonadotropic hypogonadism and also to investigate the correlation between FSH level and BMD.The study group included 33 adolescent girls with hypogonadism (14 with hypogonadotropic hypogonadism and 19 with hypergonadotropic hypogonadism). FSH, luteinizing hormone, estradiol levels, and BMD (using dual energy x-ray absorptiometry) were measured.There were no statistically significant differences between the chronological age and bone age of the two patient groups, namely, with hypogonadotropic

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2016 Journal of clinical research in pediatric endocrinology

4. Homozygous loss-of-function mutations in SOHLH1 in patients with non-syndromic hypergonadotropic hypogonadism. (PubMed)

Homozygous loss-of-function mutations in SOHLH1 in patients with non-syndromic hypergonadotropic hypogonadism. Hypergonadotropic hypogonadism presents in females with delayed or arrested puberty, primary or secondary amenorrhea due to gonadal dysfunction, and is further characterized by elevated gonadotropins and low sex steroids. Chromosomal aberrations and various specific gene defects can lead to hypergonadotropic hypogonadism. Responsible genes include those with roles in gonadal (...) development or maintenance, sex steroid synthesis, or end-organ resistance to gonadotropins. Identification of novel causative genes in this disorder will contribute to our understanding of the regulation of human reproductive function.The aim of this study was to identify and report the gene responsible for autosomal-recessive hypergonadotropic hypogonadism in two unrelated families.Clinical evaluation and whole-exome sequencing were performed in two pairs of sisters with nonsyndromic hypergonadotropic

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2015 Journal of Clinical Endocrinology and Metabolism

5. Endocrine Society of Australia position statement on male hypogonadism (part 1): assessment and indications for testosterone therapy

of the hypothalamus or pituitary gland (hypogonadotropic hypogonadism) or testes (hypergonadotropic hypogonadism). It is a clinical diagnosis with a pathological basis, confirmed by hormone assays. Hormonal assessment is based on measurement of circulating testosterone, luteinising hormone (LH) and follicle-stimulating hormone (FSH) concentrations. Measurement of sex hormone-binding globulin levels can be informative, but use of calculated free testosterone is not recommended for clinical decision making (...) defects of the testes (primary testicular failure), in which case levels of gonadotropins (luteinising hormone [LH] and follicle-stimulating hormone [FSH]) are elevated (hypergonadotropic hypogonadism). A failure of hypothalamic–pituitary stimulation with onset before or after puberty (hypogonadotropic hypogonadism) is less common. Rarely, there can be combined defects at both levels, presenting special diagnostic and therapeutic challenges ( ). Although inaccurate, the term “hypogonadism” is often

2016 MJA Clinical Guidelines

6. Endocrine Society of Australia position statement on male hypogonadism (part 2): treatment and therapeutic considerations

products, trough testosterone levels should be within the lower part of the reference interval for eugonadal men. In patients with testicular failure (primary or hypergonadotropic hypogonadism), persistent elevation of serum luteinising hormone levels during treatment may indicate inadequate testosterone dosage, frequency or compliance. Periodic monitoring of bone density (at intervals of 1–2 years) may assist in evaluating extent and chronicity of pre-treatment androgen deficiency, as well as adequacy (...) Endocrine Society of Australia position statement on male hypogonadism (part 2): treatment and therapeutic considerations Endocrine Society of Australia position statement on male hypogonadism (part 2): treatment and therapeutic considerations | The Medical Journal of Australia mja-search search Use the for more specific terms. Title contains Body contains Date range from Date range to Article type Author's surname Volume First page doi: 10.5694/mja__.______ Search Reset  close Individual

2016 MJA Clinical Guidelines

7. Hypergonadotropic Hypogonadism

Hypergonadotropic Hypogonadism Hypergonadotropic Hypogonadism Toggle navigation Brain Head & Neck Chest Endocrine Abdomen Musculoskeletal Skin Infectious Disease Hematology & Oncology Cohorts Diagnostics Emergency Findings Procedures Prevention & Management Pharmacy Resuscitation Trauma Emergency Procedures Ultrasound Cardiovascular Emergencies Lung Emergencies Infectious Disease Pediatrics Neurologic Emergencies Skin Exposure Miscellaneous Abuse Cancer Administration 4 Hypergonadotropic (...) Hypogonadism Hypergonadotropic Hypogonadism Aka: Hypergonadotropic Hypogonadism , Hypergonadotropic Causes of Delayed Puberty , Hypergonadotropic Causes of Primary Amenorrhea , Sexual Infantilism due to Gonadotropin Excess , Primary Hypogonadism From Related Chapters II. Definition: Hypergonadotropic Hypogonadism Defective development of ovaries or Associated with excess pituitary gonadotropin secretion Results in delayed and growth delay III. Etiology Gonads deficient in sex hormone production produce

2015 FP Notebook

8. Delayed puberty versus hypogonadism: a challenge for the pediatrician (PubMed)

. Moreover, pHH may be isolated, as observed in Kallmann syndrome, or associated with other hormone deficiencies, as found in panhypopituitarism. Baseline or gonadotropin-releasing hormone pituitary stimulated gonadotropin level is not sufficient to easily differentiate CDGP from pHH. Low serum testosterone in male patients and low estradiol values in female patients, associated with high serum FSH and LH levels, suggest a diagnosis of hypergonadotropic hypogonadism. A genetic analysis can reveal (...) Delayed puberty versus hypogonadism: a challenge for the pediatrician Constitutional delay of growth and puberty (CDGP) is the most common cause of delayed puberty (DP), is mainly found in males, and is characterized by short stature and delayed skeletal maturation. A family history of the subject comprising the timing of puberty in the parents and physical examination may provide clues regarding the cause of DP. Delayed onset of puberty is rarely considered a disease in either sex. In fact, DP

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2018 Annals of pediatric endocrinology & metabolism

9. Hypergonadotropic Hypogonadism, Progressive Early-Onset Spinocerebellar Ataxia, and Late-Onset Sensorineural Hearing Loss: Case Report and Literature Review (PubMed)

Hypergonadotropic Hypogonadism, Progressive Early-Onset Spinocerebellar Ataxia, and Late-Onset Sensorineural Hearing Loss: Case Report and Literature Review The association of ataxia, hypergonadotropic hypogonadism and hearing loss is extremely rare. Considerable heterogeneity exists in the literature of the neurological manifestations, age of onset, clinical severity and associated abnormalities. We describe a 24-year-old woman with secondary hypergonadotropic amenorrhea, early-onset

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2011 Balkan Journal of Medical Genetics : BJMG

10. Genetic basis of eugonadal and hypogonadal female reproductive disorders. (PubMed)

-gonadal axis dysfunction, as well as the development and etiology of eugonadal disorders including leiomyomata, endometriosis, spontaneous ovarian hyperstimulation syndrome, polycystic ovarian syndrome, mullerian aplasia, and steroid hormone resistance syndromes. We discuss the known genes most commonly involved in hypergonadotropic hypogonadism (Turner syndrome and premature ovarian failure) and hypogonadotrophic hypogonadism (Kallmann syndrome and normosmic types). In addition, we summarize (...) Genetic basis of eugonadal and hypogonadal female reproductive disorders. This review discusses the current state of our understanding regarding the genetic basis of the most important reproductive disorders in women. For clarity, these disorders have been divided into eugonadal and hypogonadal types. Hypogonadal disorders have been further subdivided according to serum gonadotropin levels. Our review focuses on historical and recent data regarding the genetics of the hypothalamic-pituitary

2017 Best practice & research. Clinical obstetrics & gynaecology

11. Human Menopausal Gonadotropin Combining With Human Chorionic Gonadotropin Treat Congenital Hypogonadotropic Hypogonadism

enrolled them when they have testis volume >4ml or the testosterone level 〉200ng/L,companies anosmia or dysplasia of olfactory bulb /olfactory sulcus/ olfactory structs on MRI, and the puberty arrested in half a year. These patients can be diagnosed as Kallmann Syndrome. Exclusion Criteria: Any ascertain reason contributes to the non puberty development (Chromosome abnormal, trauma, surgeries) or any ascertain disease such as Prader-Willi syndrome or hypergonadotropic hypogonadism Systemic diseases (...) Human Menopausal Gonadotropin Combining With Human Chorionic Gonadotropin Treat Congenital Hypogonadotropic Hypogonadism Human Menopausal Gonadotropin Combining With Human Chorionic Gonadotropin Treat Congenital Hypogonadotropic Hypogonadism - Full Text View - ClinicalTrials.gov Hide glossary Glossary Study record managers: refer to the if submitting registration or results information. Search for terms x × Study Record Detail Saved Studies Save this study Warning You have reached the maximum

2016 Clinical Trials

12. Hypogonadism

functional activity of the gonads, with retardation of growth and sexual development. Definition (MSH) Condition resulting from deficient gonadal functions, such as GAMETOGENESIS and the production of GONADAL STEROID HORMONES. It is characterized by delay in GROWTH, germ cell maturation, and development of secondary sex characteristics. Hypogonadism can be due to a deficiency of GONADOTROPINS (hypogonadotropic hypogonadism) or due to primary gonadal failure (hypergonadotropic hypogonadism). Concepts (...) Hypogonadism Hypogonadism Toggle navigation Brain Head & Neck Chest Endocrine Abdomen Musculoskeletal Skin Infectious Disease Hematology & Oncology Cohorts Diagnostics Emergency Findings Procedures Prevention & Management Pharmacy Resuscitation Trauma Emergency Procedures Ultrasound Cardiovascular Emergencies Lung Emergencies Infectious Disease Pediatrics Neurologic Emergencies Skin Exposure Miscellaneous Abuse Cancer Administration 4 Hypogonadism Hypogonadism Aka: Hypogonadism From Related

2018 FP Notebook

13. Endocrine Society of Australia position statement on male hypogonadism (part 1): assessment and indications for testosterone therapy. (PubMed)

of the hypothalamus or pituitary gland (hypogonadotropic hypogonadism) or testes (hypergonadotropic hypogonadism). It is a clinical diagnosis with a pathological basis, confirmed by hormone assays.Hormonal assessment is based on measurement of circulating testosterone, luteinising hormone (LH) and follicle-stimulating hormone (FSH) concentrations. Measurement of sex hormone-binding globulin levels can be informative, but use of calculated free testosterone is not recommended for clinical decision (...) Endocrine Society of Australia position statement on male hypogonadism (part 1): assessment and indications for testosterone therapy. This article, Part 1 of the Endocrine Society of Australia's position statement on male hypogonadism, focuses on assessment of male hypogonadism, including the indications for testosterone therapy. (Part 2 will deal with treatment and therapeutic considerations.)Key points and recommendations are:Pathological hypogonadism arises due to diseases

2016 Medical Journal of Australia

14. Effects of Replacement Therapy With Sexual Steroid Hormones on the Insulin Sensitivity of Hypogonadal Man

Posted : August 17, 2018 Sponsor: University Hospital, Caen Information provided by (Responsible Party): University Hospital, Caen Study Details Study Description Go to Brief Summary: Sexual steroids administered to supra-physiological doses are likely to change the carbohydrate and lipid metabolism. Investigators propose to study in 12 hypogonadal men hypogonadotropic or hypergonadotropic treated with aromatase inhibitor, the respective effects of estradiol, testosterone or both steroids (...) or your doctor may contact the study research staff using the contacts provided below. For general information, Layout table for eligibility information Ages Eligible for Study: 18 Years to 60 Years (Adult) Sexes Eligible for Study: Male Accepts Healthy Volunteers: No Criteria Inclusion Criteria: Hypogonadism hypogonadotropic or hypergonadotropic Man aged 18-60 years BMI between 18 and 27. Exclusion Criteria: Other ante-pituitary deficiency Chronic treatment modifying carbohydrate metabolism

2015 Clinical Trials

15. Vitamin D deficiency in type 2 diabetic patients with hypogonadism. (PubMed)

) or insufficiency (20-29.9 ng/mL). The lowest 25(OH)D concentration was found in Group 1 (20.1 ± 6.58 ng/mL). Concentration of 25(OH)D was significantly lower in the 42 patients with hypogonadotropic hypogonadism as compared with the 9 patients with hypergonadotropic hypogonadism (19.4 ± 7.06 vs. 23.8 ± 6.11 ng/mL, P < 0.001). No difference in erectile dysfunction (ED) prevalence between Group 1 and Group 2 was found, nor was there a correlation between the severity of ED and vitamin D levels (r = -0.10, P (...) = 0.39).These results show that type 2 diabetic patients with hypogonadism present lower 25(OH)D concentration and higher prevalence of vitamin D deficiency, compared with patients without hypogonadism. The finding that 25(OH)D concentrations were similar between type 2 diabetic patients with hypergonadotropic hypogonadism and those with normal gonadal function deserves further study.© 2013 International Society for Sexual Medicine.

2014 Journal Of Sexual Medicine

16. Hypogonadism (Diagnosis)

Testicular tissue testing: If the testes are not palpable and if it is not certain whether any testicular tissue is present, administering human chorionic gonadotropin (hCG) and measuring testosterone response may be helpful See for more detail. Management Hormonal replacement The simplest and most successful treatment for males and females with either hypergonadotropic or hypogonadotropic hypogonadism is replacement of sex steroids, but the therapy does not confer fertility or, in men, stimulate (...) testicular growth. When fertility is desired, an alternative therapy for men with hypogonadotropic hypogonadism is administration of pulsatile LHRH or injections of hCG and FSH. (In patients with hypergonadotropic hypogonadism, fertility is not possible.) In a 6-year European study of men being treated for hypogonadism, long-term transdermal testosterone treatment did not increase prostate-specific antigen (PSA) levels or influence prostate cancer risk. [ , ] Investigators used data from a 5-year, open

2014 eMedicine Pediatrics

17. Hypogonadism (Follow-up)

replacement dose. Adult testosterone dose can be adjusted to maintain serum testosterone concentrations in the normal adult range. Therapy with sex steroid replacement ensures development of secondary sexual characteristics and maintenance of normal sexual function. In patients with hypergonadotropic hypogonadism, fertility is not possible. However, patients with hypogonadotropic hypogonadism have fertility potential, although therapy with sex steroids does not confer fertility or stimulate testicular (...) with hypergonadotropic hypogonadism are traditionally considered infertile. However, men with Klinefelter syndrome may benefit from a consultation with a reproductive urologist and testicular sperm extraction (TESE) followed by in vitro fertilization. This technique has allowed men with Klinefelter syndrome to father children. For boys with Klinefelter syndrome who have reached puberty, cryopreservation of semen samples containing very low numbers of spermatozoa is possible and should be offered before testosterone

2014 eMedicine Pediatrics

18. Hypogonadism (Treatment)

replacement dose. Adult testosterone dose can be adjusted to maintain serum testosterone concentrations in the normal adult range. Therapy with sex steroid replacement ensures development of secondary sexual characteristics and maintenance of normal sexual function. In patients with hypergonadotropic hypogonadism, fertility is not possible. However, patients with hypogonadotropic hypogonadism have fertility potential, although therapy with sex steroids does not confer fertility or stimulate testicular (...) with hypergonadotropic hypogonadism are traditionally considered infertile. However, men with Klinefelter syndrome may benefit from a consultation with a reproductive urologist and testicular sperm extraction (TESE) followed by in vitro fertilization. This technique has allowed men with Klinefelter syndrome to father children. For boys with Klinefelter syndrome who have reached puberty, cryopreservation of semen samples containing very low numbers of spermatozoa is possible and should be offered before testosterone

2014 eMedicine Pediatrics

19. Hypogonadism (Overview)

Testicular tissue testing: If the testes are not palpable and if it is not certain whether any testicular tissue is present, administering human chorionic gonadotropin (hCG) and measuring testosterone response may be helpful See for more detail. Management Hormonal replacement The simplest and most successful treatment for males and females with either hypergonadotropic or hypogonadotropic hypogonadism is replacement of sex steroids, but the therapy does not confer fertility or, in men, stimulate (...) testicular growth. When fertility is desired, an alternative therapy for men with hypogonadotropic hypogonadism is administration of pulsatile LHRH or injections of hCG and FSH. (In patients with hypergonadotropic hypogonadism, fertility is not possible.) In a 6-year European study of men being treated for hypogonadism, long-term transdermal testosterone treatment did not increase prostate-specific antigen (PSA) levels or influence prostate cancer risk. [ , ] Investigators used data from a 5-year, open

2014 eMedicine Pediatrics

20. Study of the Prevalence and Associated Factors With Hypogonadism in HIV + Men

secretion of cytokines, secondary to the infection may alter the Leydig cells causing a hypergonadotropic hypogonadism and disrupts steroidogenesis. Cases of testicular invasion by lymphoma or Kaposi's syndromes have also been described. The advent of antiretroviral therapy has reduced the prevalence of hypogonadism in patients infected with HIV that is currently about 20%. This prevalence remains about 20%, regardless of the antiretroviral therapy and CD4-T cell count. No study to our knowledge has so (...) Study of the Prevalence and Associated Factors With Hypogonadism in HIV + Men Study of the Prevalence and Associated Factors With Hypogonadism in HIV + Men - Full Text View - ClinicalTrials.gov Hide glossary Glossary Study record managers: refer to the if submitting registration or results information. Search for terms x × Study Record Detail Saved Studies Save this study Warning You have reached the maximum number of saved studies (100). Please remove one or more studies before adding more

2013 Clinical Trials

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