Replacement of Male Mini-Puberty Replacement of Male Mini-Puberty

Is daily treatment with LH/FSH a safe and effective option for infants with congenital hypogonadotropic hypogonadism?Journal of the Endocrine Society
Source: Medscape Today Headlines - Category: Consumer Health News Tags: Diabetes & Endocrinology Journal Article Source Type: news

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Discussion Bardet-Biedl syndrome (BBS) is a rare disorder. It is usually considered an autosomal recessive disorder but there is significant intra-familial variability. There are multiple genes (~20 currently) involved and it is believed that the phenotypic variability is due to “…differences in the total mutational load across different BBS associated genes….” It is a ciliopathy where mutation changes in proteins in the cilias causes problems in the cilia’s functioning particularly signaling. Cilia are important in signaling to maintain tissue and cellular homeostasis. Obviously screening o...
Source: PediatricEducation.org - Category: Pediatrics Authors: Tags: Uncategorized Source Type: news
Publication date: Available online 8 August 2019Source: Autoimmunity ReviewsAuthor(s): Alberto Romano, Donato Rigante, Clelia CipollaAbstractThe contribution of autoimmune phenomena to dysfunction of hypophysis or hypothalamus is far to be unraveled and also the specific pathways of hypophysitis are poorly understood until now, mostly for the pediatric population. Primary hypophysitis is rare in children and often regarded as an autoimmune disorder, following the evidence of lymphoplasmacytic infiltration in the pituitary gland, detection of anti-pituitary antibodies (APA) and anti-hypotalamus antibodies (AHA) by indirect ...
Source: Autoimmunity Reviews - Category: Allergy & Immunology Source Type: research
AbstractPurpose of ReviewKlinefelter syndrome (KS) is associated with increased insulin resistance and high rates of type 2 diabetes (T2DM). Our aim was to review what is known about the prevalence of diabetes in men with KS, potential mechanisms underlying the observed metabolic phenotype, and the data that are available to guide treatment decisions.Recent FindingsThe increased prevalence of T2DM seen in men with KS appears to be the result of multiple mechanisms including increased truncal adiposity and socioeconomic disadvantages, but it is likely not a direct consequence of hypogonadism alone. No randomized trials have...
Source: Current Diabetes Reports - Category: Endocrinology Source Type: research
Several studies highlight that testosterone deficiency is associated and predicts increased risk of developing metabolic disorders, and, that it is highly prevalent in obesity, metabolic syndrome and type-2 diabetes mellitus. Models of gonadotropin releasing hormone deficiency and androgen deprivation in patients with prostate cancer suggest that hypogonadotropic hypogonadism might contribute to onset or further worsen metabolic conditions by means of increased fat mass and insulin resistance. Nevertheless, in functional hypogonadism, such as late onset hypogonadism, the relationship between hypogonadotropic hypogonadism a...
Source: Frontiers in Endocrinology - Category: Endocrinology Source Type: research
In this report, we present a 4.5 year old girl diagnosed with H syndrome based on genetic investigation.
Source: Meta Gene - Category: Genetics & Stem Cells Source Type: research
Caloric restriction and excessive exercise can result in energy deficits that may lead to hypogonadotropic hypogonadism, but it may be reversible.Clinical Endocrinology
Source: Medscape Today Headlines - Category: Consumer Health News Tags: Diabetes & Endocrinology Journal Article Source Type: news
Rationale: The misdiagnosis of hypopituitarism is common due to its rarity and its nonspecific clinical manifestations. Our case report highlights the importance of critical evaluation regarding hypopituitarism as a cause of recurrent hypoglycemia, hyponatremia, and gastrointestinal symptoms in patients with T1DM, as misdiagnosis might be fatal to the patient. Patient concerns: We herein report the case of 35-year-old female patient who presented with 18 years of history of well-controlled type 1 diabetes mellitus and a 6-month history of recurrent nausea and vomiting, generalized weakness, hyponatremia, and severe hy...
Source: Medicine - Category: Internal Medicine Tags: Research Article: Clinical Case Report Source Type: research
AbstractGPA with pituitary involvement is a rare condition which is prone to be misdiagnosed. The aim of this study was to summarize clinical features of pituitary involvement in GPA and facilitate early diagnosis. Twelve GPA patients were retrospectively analyzed at a single hospital between 2000 and 2017. A literature review was conducted to compare previous findings with our clinical results. The incidence rate of pituitary involvement in GPA was 3.9% (12/304) without sexual predilection. Other impairments included ear, nose and throat (n = 12), oculi (n = 10), lung (n = 6), men...
Source: Rheumatology International - Category: Rheumatology Source Type: research
ConclusionEndocrine complications are frequently observed in TDT patients. Splenectomy is a major risk factor and should be generally avoided unless it is highly indicated. Periodic surveillance of endocrine function and proper management of iron overload are advised.
Source: Journal of Endocrinological Investigation - Category: Endocrinology Source Type: research
We present a new case with pituitary iron deposition, cardiac and intestinal anomalies, with a novel mutation in DCAF17 gene. An 18-year-old female was admitted because of delayed puberty and amenorrhea. Hormonal evaluation revealed combined hyper-hypogonadotropic hypogonadism. GH and IGF-1 levels were low without short stature. ACTH levels were high and cortisol levels were supranormal with the lack of clinical findings of cortisol excess or deficiency. Pituitary MRI indicated paramagnetic substance deposition in gland. On follow-ups, non-autoimmune, insulinopenic diabetes mellitus and secondary hypothyroidism emerged. Wo...
Source: European Journal of Medical Genetics - Category: Genetics & Stem Cells Authors: Tags: Eur J Med Genet Source Type: research
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