Constitutional delay of puberty versus congenital hypogonadotropic hypogonadism: genetics, management and updates

Publication date: Available online 5 September 2019Source: Best Practice &Research Clinical Endocrinology &MetabolismAuthor(s): Taneli Raivio, Päivi J. MiettinenAbstractDelayed puberty (DP) affects approximately 2% of adolescents. In the vast majority of patients in both sexes, it is due to constitutional delay of growth and puberty (CDGP), a self-limited condition in which puberty starts later than usual but progresses normally. However, some CDGP patients may benefit from medical intervention with low-dose sex steroids or peroral aromatase inhibitor letrozole (only for boys). Other causes of DP include permanent hypogonadotropic hypogonadism, functional hypogonadotropic hypogonadism (due to chronic diseases and conditions), and gonadal failure. In this review we discuss these themes along with the latest achievements in the field of puberty research, and include a brief synopsis on the differential diagnosis and management of patients with CDGP and congenital hypogonadotropic hypogonadism.
Source: Best Practice and Research Clinical Endocrinology and Metabolism - Category: Endocrinology Source Type: research

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The objective of this work, apart from reviewing the currently known genes associated with CHH, was to summarize the advantages and disadvant ages of the NGS-based platforms and through the authors’ own practice to guide through the whole workflow starting from gene panel design, performance analysis and result interpretation. Based on our results, a genetic diagnosis was clearly identified in 21% of cases tested (8/38).
Source: Human Genetics - Category: Genetics & Stem Cells Source Type: research
AbstractKey contentThe World Health Organization (WHO) type 1 anovulatory disorders include hypogonadotrophic hypogonadism, hypothalamic amenorrhoea and hypopituitarism.These conditions are encountered primarily in endocrine, gynaecology and reproductive medicine clinics, and can result in amenorrhoea/oligomenorrhoea, subfertility or pregnancy loss.These conditions are associated with estrogen deficiency and therefore have implications for long ‐term bone and cardiovascular health.There is an apparent lack of clarity on diagnostic criteria (including utility of new biomarkers such as anti ‐müllerian hormone) and m...
Source: The Obstetrician and Gynaecologist - Category: OBGYN Authors: Tags: REVIEWS Source Type: research
According to this study: Testosterone therapy is associated with an increased short-term risk of venous thromboembolism in both men who have hypogonadism and men who do not.
Source: AJN - Category: Nursing Tags: Journal Watch Source Type: research
Condition:   Hypogonadism Intervention:   Drug: Androderm® Sponsor:   Allergan Not yet recruiting
Source: ClinicalTrials.gov - Category: Research Source Type: clinical trials
Horm Metab Res 2020; 52: 186-193 DOI: 10.1055/a-1100-706617-Hydroxylase-deficiency (17OHD) is a rare form of congenital adrenal hyperplasia. The aim of the work was to study clinical, biochemical, and the follow up of 17OHD patients and evaluate the function and structure of CYP17A1 mutations. Brazilian patients (three 46, XX and four 46, XY; 17±1.9 years) with combined 17-hydroxylase/17,20-lyase deficiency were evaluated. CYP17A1 gene was sequenced. Functional analysis was performed transfecting COS7 cells, which were exposed to progesterone or 17α-hydroxypregnolone ...
Source: Hormone and Metabolic Research - Category: Endocrinology Authors: Tags: Endocrine Care Source Type: research
ConclusionTRT can reliably improve global sexual function in men with hypogonadism in the short term. Long ‐term clinical benefits, and safety of TRT in functional hypogonadism, remain to be fully documented. Clinicians should therefore explicitly discuss the uncertainties and benefits of TRT and engage them in shared management decision‐making.
Source: Andrology - Category: Urology & Nephrology Authors: Tags: REVIEW ARTICLE Source Type: research
AbstractA genetic basis of congenital isolated hypogonadotropic hypogonadism (CHH) can be defined in almost 50% of cases, albeit not necessarily the complete genetic basis. Next-generation sequencing (NGS) techniques have led to the discovery of a great number of loci, each of which has illuminated our understanding of human gonadotropin-releasing hormone (GnRH) neurons, either in respect of their embryonic development or their neuroendocrine regulation as the “pilot light” of human reproduction. However, because each new gene linked to CHH only seems to underpin another small percentage of total patient cases,...
Source: Human Genetics - Category: Genetics & Stem Cells Source Type: research
Conclusions: To sum up, we found that the postoperative incidences of hypopituitarism were higher than the preoperative incidences. Tumour type, surgery resection methods, and tumour sizes were important contributing factors to the incidence of postoperative hypogonadism. PMID: 32190158 [PubMed]
Source: Archives of Medical Science - Category: General Medicine Tags: Arch Med Sci Source Type: research
The role of paternal health in fertility outcomes has become increasingly clear during the past decade. Environmental exposures, such as tobacco, alcohol, and marijuana, can impair semen parameters. In addition to well-established conditions, such as varicocele and hypogonadism, paternal comorbidity in the form of obesity, diabetes, and hypertension have now been shown to have significant impact on semen parameters. Beyond the semen analysis itself, sperm quality as measured by deoxyribonucleic acid (DNA) fragmentation has been implicated in many clinical pathologies including recurrent pregnancy loss and failure of in &nb...
Source: Fertility and Sterility - Category: Reproduction Medicine Authors: Tags: Reflections Source Type: research
Men and women experience schizophrenia differently; from the age of onset to symptoms and how society treats those with mental disorders.  Schizophrenic, Rachel Star Withers and co-host Gabe Howard continue the discussion of the differences from the last episode but change the focus to men.  Jason Jepson, an author who has schizophrenia joins for a man’s perspective and Dr. Hayden Finch returns to explain the clinical side of the issues. Highlights in “Schizophrenia in Men” Episode [01:30] Age of onset [04:00] Symptoms in men vs women [05:00] Interview with Jason Jepson [07:30] Jason discusses ...
Source: World of Psychology - Category: Psychiatry & Psychology Authors: Tags: Inside Schizophrenia Men's Issues Psychiatry Psychology Living With Schizophrenia Mental Disorder Mental Health Mental Illness Symptoms Of Schizophrenia Source Type: blogs
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