Hypogonadotropic hypogonadism
Identifying the unmet health needs of patients with congenital hypogonadotropic hypogonadism using a web-based needs assessment: implications for online interventions and peer-to-peer support
... Congenital hypogonadotropic hypogonadism (CHH, ORPHA174590) is a rare, genetic, endocrine disorder which is clinically characterized by incomplete/absent puberty and infertility as a result of a deficiency ...
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Normosmic idiopathic hypogonadotropic hypogonadism due to a novel GNRH1 variant in two siblings
... When hypogonadotropic hypogonadism occurs in the absence of structural or functionallesionsofthehypothalamicorpituitarygland,thehypogonadismisdefinedasidiopathichypogonadotropic hypogonadism ...
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Expanding the mutational spectrum of monogenic hypogonadotropic hypogonadism: novel mutations in ANOS1 and FGFR1 genes
... Congenital hypogonadotropic hypogonadism (CHH) is a rare disease with a male predominance that is respon- sible for the absence of spontaneous puberty and sterility in most of the ...
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WDR11 Mutations as A Potential Player of Idiopathic Hypogonadotropic Hypogonadism
... As many genes associated with human puberty is also known for their involvement in tumori genesis, WDR11 is also initially recognized as a potential tumor suppressor. The chromosome 10q26 region has been previously ...
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Loss of microRNA 7a2 induces hypogonadotropic hypogonadism and infertility
... tropic hypogonadism, which is defined as low levels of the sex steroids testosterone or estrogen (hypogonadism) in male or female patients, respectively, and inappropriately low levels of gonadotropins FSH ...
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A patient with van Maldergem syndrome with endocrine abnormalities, hypogonadotropic hypogonadism, and breast aplasia/hypoplasia
... tropic hypogonadism, and, with no adrenarche, possibly ACTH ...had hypogonadotropic hypogonad- ism and breast and/or nipple aplasia/hypoplasia is un- ...
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Assisted reproductive techniques with congenital hypogonadotropic hypogonadism patients: a systematic review and meta-analysis
... Congenital hypogonadotropic hypogonadism (CHH) is a disorder characterized by lacking of puberty and infertil- ity, with low levels of circulating gonadotropins and sex ...
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Male hypogonadotropic hypogonadism in various genetic disorders
... that hypogonadism can be viewed as another important component of metabolic syndrome ...secondary hypogonadism [8]. Congenital hypogonadotropic hypogonadism can be isolated (isolated ...
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Growth and descent of the testes in infants with hypogonadotropic hypogonadism receiving subcutaneous gonadotropin infusion
... Hypogonadotropic hypogonadism (HH) is observed at birth in infants who have combined pituitary hormone deficits (CPHD) or isolated hypogonadotropic hypo- gonadism (IHH), two separate entities that ...
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Successful pregnancy and live birth from a hypogonadotropic hypogonadism woman with low serum estradiol concentrations despite numerous oocyte maturations: a case report
... HH: Hypogonadotropic hypogonadism; HMG: Human menopausal gonadotropin; HRT: Hormone replacement treatment; HSG: Hysterosalpingography; ICSI: Intra cytoplasmic sperm injection; Inf-: Infertile patients; IVF: ...
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Digenic mutations account for variable phenotypes in idiopathic hypogonadotropic hypogonadism
... Idiopathic hypogonadotropic hypogonadism (IHH) due to defects of gonadotropin-releasing hormone (GnRH) secretion and/or action is a developmental disorder of sexual ...
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A Case of Hypogonadotropic Hypogonadism Caused by Opioid Treatment for Nonmalignant Chronic Pain
... acquired hypogonadotropic hypogonadism. Furthermore, his hypogonadotropic symptom such as loss of libido and erectile dysfunction appeared after starting treatment with transdermal ...his ...
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Adrenal hypoplasia congenita with hypogonadotropic hypogonadism: evidence that DAX 1 mutations lead to combined hypothalmic and pituitary defects in gonadotropin production
... hydration and weight loss at 2 wk of age. Neither infant had elevated adrenal steroid precursors. The proband’s uncle (III:7) sought medi- cal attention at 8 yr of age when he developed fatigue and generalized ...
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Clinical case seminar - Hypogonadotropic hypogonadism as a presenting feature of late-onset X-linked adrenal hypoplasia congenita
... did not achieve fertility after 8 months of treatment with go- nadotropins. A novel Y380D DAX-1 missense mutation, which causes partial loss of function in transient gene expression assays, was found in this patient. ...
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An open-label clinical trial to investigate the efficacy and safety of corifollitropin alfa combined with hCG in adult men with hypogonadotropic hypogonadism
... Male hypogonadotropic hypogonadism (HH) is charac- terized by impairment in the secretion of the pituitary gonadotropins, follicle-stimulating hormone (FSH), and luteinizing hormone (LH), resulting in ...
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Developing and evaluating rare disease educational materials co-created by expert clinicians and patients: the paradigm of congenital hypogonadotropic hypogonadism
... One such rare disorder is congenital hypogonadotropic hypogonadism (CHH, ORPHA174590). Based on a study of French conscripts, CHH occurs in approximately one in 4,000-10,000 [7]. It is clinically ...
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S100a4-Cre–mediated deletion of Ptch1 causes hypogonadotropic hypogonadism: role of pituitary hematopoietic cells in endocrine regulation
... adult-onset hypogonadotropic hypogonadism and multiple pituitary hormone ...develop hypogonadism coupled with reduced gonadotropin ...causing hypogonadotropic hypogonadism and provide ...
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Hypogonadotropic hypogonadism in men with hereditary hemochromatosis
... of hypogonadism (a decrease of androgen-dependent hairiness, testicular atrophy and ...to hypogonadism and sexual ...his hypogonadotropic hypogonadism ...
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Study on KAL1 Gene Mutations in Idiopathic Hypogonadotropic Hypogonadism Patients with X-Linked Recessive Inheritance
... Idiopathic hypogonadotropic hypogonadism (IHH) is a condition caused by low doses of hypothalamic gonadotropin-releasing hormone (GnRH) leading to absence or incomplete sexual ...
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Studies of the pituitary Leydig cell axis in young men with hypogonadotropic hypogonadism and hyposmia: comparison with normal men, prepuberal boys, and hypopituitary patients
... The plasma testosterone levels were equally low in prepuberal, hypopituitary, and hyposmic patients but were increased to a greater extent by human chorionic gonadotropin HCG treatment i[r] ...
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