Search results for "hypogonadism"
showing 10 items of 23 documents
Sema3a plays a role in the pathogenesis of CHARGE syndrome
2018
CHARGE syndrome is an autosomal dominant malformation disorder caused by heterozygous loss of function mutations in the chromatin remodeler CHD7. Chd7 regulates the expression of Sema3a, which also contributes to the pathogenesis of Kallmann syndrome, a heterogeneous condition with the typical features hypogonadotropic hypogonadism and an impaired sense of smell. Both features are common in CHARGE syndrome suggesting that SEMA3A may provide a genetic link between these syndromes. Indeed, we find evidence that SEMA3A plays a role in the pathogenesis of CHARGE syndrome. First, Chd7 is enriched at the Sema3a promotor in neural crest cells and loss of function of Chd7 inhibits Sema3a expression…
NKX2-1 New Mutation Associated With Myoclonus, Dystonia, and Pituitary Involvement
2018
Background: NKX2-1 related disorders (also known as brain-lung-thyroid syndrome or benign hereditary chorea 1) are associated with a wide spectrum of symptoms. The core features are various movement disorders, characteristically chorea, less frequently myoclonus, dystonia, ataxia; thyroid disease; and lung involvement. The full triad is present in 50% of affected individuals. Numerous additional symptoms may be associated, although many of these were reported only in single cases. Pituitary dysfunction was ambiguously linked to NKX2-1 haploinsufficiency previously. Case Presentation: We examined two members of a family with motor developmental delay, mixed movement disorder (myoclonus, dyst…
Validation of the German version of the ‘Hypogonadism Related Symptom Scale’ (HRS) in andrological patients with infertility, HIV infection and metab…
2013
Summary As commonly used self-reported screening instruments for male hypogonadism demonstrated lack of specificity, a Hypogonadism Related Symptom Scale (HRS) was developed in 2009 as a novel self-rating screening tool. As the questionnaire has not been validated, the purpose of our study was to perform a validation in patients presenting with different disorders (e.g. infertility, HIV infection or metabolic syndrome) and disease-related risk to develop hypogonadism. Two hundred and eighteen patients aged 19–71 years (40.1 ± 9.5) who completed the HRS and other common questionnaires [International Index Of Erectile Function (IIEF), National Institutes of Health Chronic Prostatitis Symptom …
Transfusional Hemochromatosis: Quantitative Relation of MR Imaging Pituitary Signal Intensity Reduction to Hypogonadotropic Hypogonadism
2000
To assess the relationship between magnetic resonance (MR) imaging pituitary signal intensity reduction in patients with transfusional hemochromatosis and the clinical manifestation of hypogonadotropic hypogonadism.Pituitary MR imaging at 0.5 T was performed in 38 consecutive patients affected by secondary hemochromatosis and in 20 healthy volunteers. Serum ferritin levels were estimated in the affected population. Twenty (53%) of the 38 patients had hypogonadotropic hypogonadism diagnosed. Pituitary-to-fat signal intensity ratios were calculated from coronal gradient-echo (GRE) T2*-weighted MR images. The relationship between the quantitative reduction of the pituitary-to-fat signal intens…
Hypogonadism-related symptoms: development and evaluation of an empirically derived self-rating instrument (HRS ‘Hypogonadism Related Symptom Scale’)
2009
While self-report screening instruments are highly sensitive to hypogonadism in the ageing male, they have lacked specificity as evidenced by low or absent correlations with testosterone. The purpose of this paper was to develop an economical and specific screening instrument for identifying hypogonadal ageing men. Based on a comprehensive study of physical, somatoform and affective complaints, sexual behaviour and function and hormonal parameters of 263 outpatients aged 40 years and above (M = 56.2; 40-84 years) recruited from six andrological outpatient departments in Germany, we identified those items correlating significantly with testosterone. By factor analyses, five factors were iden…
Lower sperm DNA fragmentation after r-FSH administration in functional hypogonadotropic hypogonadism
2013
Abstract PURPOSE: An observational clinical and molecular study was designed to evaluate the effects of the administration of recombinant human FSH on sperm DNA fragmentation in men with a non-classical form of hypogonadotropic hypogonadism and idiopathic oligoasthenoteratozoospermia. METHODS: In the study were included 53 men with a non-classical form of hypogonadotropic hypogonadism and idiopathic oligoasthenoteratozoospermia. In all patients, sperm DNA fragmentation index (DFI), assessed by terminal deoxynucleotidyl transferase-mediated deoxyuridine triphosphate (dUTP) in situ DNA nick end-labelling (TUNEL) assay, was evaluated before starting the treatment with 150 IU of recombinant hum…
Subcutaneous gonadotropin therapy in male patients with hypogonadotropic hypogonadism
1991
Objective The response to subcutaneous (SC) gonadotropin replacement therapy, using human chorionic gonadotropin (hCG) and human menopausal gonadotropin (hMG) or hCG alone, was evaluated in male hypothalamic hypogonadism. Design Sixteen patients with hypothalamic hypogonadism were treated with gonadotropins for induction of puberty and normalization of spermatogenesis. The results were analyzed retrospectively. Setting The study was carried out in a clinical endocrinology department providing tertiary care and in private practices of endocrinology. Patients Eight patients with idiopathic hypogonadotropic hypogonadism and eight patients with Kallmann's syndrome in prepubertal or early pubert…
Stimulation of Spermatogenesis and Biological Paternity by Intranasal (Low Dose) Gonadotropin-Releasing Hormone (GnRH) in a Male with Kallmann's Synd…
1987
Intranasal (in) GnRH spray caused induction and maintenance of spermatogenesis and biological paternity in a 28-yr-old man with Kallmann's syndrome. Prior treatment had included GnRH analog administration, which failed to induce puberty, and testosterone (T) enanthate weekly. Prior hCG/human menopausal gonadotropin therapy had resulted in high normal serum T levels and near-normal semen quality, but during subsequent hCG therapy, spermatogenesis markedly decreased. The patient had then received 250 mg T enanthate/month for 2 yr and 7 months; it was discontinued 7 weeks before the in GnRH study began. At its start (July 1984) the subject's testis size was 7 mL, and he had azoospermia, low se…
Testicular Sperm Extraction (TESE) and Intracytoplasmic Sperm Injection (ICSI) in Hypogonadotropic Hypogonadism with Persistent Azoospermia After Hor…
2004
Purpose: We aimed to retrieve testicular sperm to be employed on intracytoplasmic sperm injection (ICSI) cycles on a male affected of hypogonadotropic hypogonadism (HH) that remained azoospermic after long-time hormonal treatment. Methods: Design. We initially performed hormonal therapy using gonadotropins to achieve spermatogenesis. After several semen analyses, we weighed the possibility of looking for testicular spermatozoa for ICSI. Setting. A private university-affiliated setting. Patient. A 30-years-old man diagnosed 10 years ago to suffer from idiopathic, prepubertal HH. Interventions. Gonadotrophin treatment was initiated with hCG and follicle stimulating hormone (FSH). Testicular s…
The influence of comorbidities on the aging males' symptoms scale in patients with erectile dysfunction.
2017
To investigate if certain common age-related comorbidities are related with a positive aging males' symptoms (AMS) test outcome.This was a multicentric, transversal, observational study carried out in a male population with erectile dysfunction. Comorbidities and testosterone levels were registered. The relationship between comorbidities, testosterone levels, and the AMS test outcomes was studied using the global score and the sub-scale score components.The study included 1112 patients. In the multivariate analysis the global score strongly correlated with TT 12 nmol/L (odds ratio [OR] = 3.17; p 0.05), psychiatric disorders (OR = 2.73), dyslipidemia (OR = 2.07) and diabetes mellitus (OR =…