Presentation, progression, and predictors of ovarian insufficiency in classic galactosemia

AbstractClassic galactosemia (CG) is an inherited metabolic disorder that affects about 1 in 50,000 live births in the United States and many other countries. With the benefit of early detection by newborn screening and rapid dietary restriction of galactose, generally achieved by removing dairy from the diet, most affected infants are spared the acute and potentially lethal symptoms of disease. Despite early detection and life-long dietary intervention, however, most patients grow to experience a constellation of long-term complications that include premature ovarian insufficiency in the vast majority of girls and young women. Our goal in the study reported here was to define the presentation, progression, and predictors of ovarian insufficiency in a cohort of 102 post-pubertal girls and women with CG. To our knowledge, this is the largest cohort studied to date. We found that 68% of the girls and women in our study achieved spontaneous menarche, while 32% achieved menarche only after starting hormone replacement therapy (HRT). Of those who achieved spontaneous menarche, fewer than 50% were still cycling regularly after 3  years, and fewer than 15% were still cycling regularly after 10 years. Of factors tested for possible association with spontaneous menarche, only detectable (≥ 0.04 ng/mL) plasma anti-Müllerian hormone (AMH) level was significant. These results extend substantially from prior studies and con firm that detectable plasma AMH is a ...
Source: Journal of Inherited Metabolic Disease - Category: Internal Medicine Source Type: research

Related Links:

Authors: Kasap E, Gene M, Sahin N, Sivrikoz ON Abstract Milllerian agenesis and the absence of organs of Millerian canal origin are referred to as Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome. Invasive ductal carcinoma constitutes 47-75% of all breast carcinomas and is the most common type. The authors report the first case of invasive ductal carcinoma associated with MRKH syndrome in the literature to their knowledge. A 25-year-old woman with a palpable mass in her right breast for three months presented to the presented clinic. On physical examination a mobile, firm mass measuring 2x2 cm was detected in right b...
Source: European Journal of Gynaecological Oncology - Category: OBGYN Tags: Eur J Gynaecol Oncol Source Type: research
Authors: Papakonstantinou PE, Gourniezakis N, Skiadas C, Patrianakos A, Gikas A Abstract CONTEXT: Hypothyroidism is a significant cause of pericardial effusion. However, large pericardial effusions due to hypothyroidism are extremely rare. Hormone replacement therapy is the cornerstone of treatment for hypothyroidism and regular follow-up of patients after initiation of the therapy is indicated. Herein, the case of a 70-year-old woman with a massive pericardial effusion due to Hashimoto's disease is presented. ISSUES: A 70-year-old female from a rural village on the island of Crete, Greece, was admitted to our ...
Source: Rural and Remote Health - Category: Rural Health Tags: Rural Remote Health Source Type: research
AbstractEuvolemic hyponatremia results from either the syndrome of inappropriate antidiuretic hormone secretion (SIADH), hypothyroidism, or adrenal insufficiency. Furthermore, the criteria for diagnosis of SIADH entail the exclusion of hypothyroidism and hypoadrenalism. We aim to assess the yield of euvolemic hyponatremia workup focusing on underlying endocrinopathies in a real-world setting. A single-center retrospective study includes all patients diagnosed with euvolemic hyponatremia in a tertiary hospital between 1.1.2007 and 1.1.2013. Demographic, clinical, and laboratory data were collected from medical charts. Euvol...
Source: Internal and Emergency Medicine - Category: Emergency Medicine Source Type: research
The administration of thyroid hormone replacement therapy may help lower the risk of developing CVD among patients with subclinical hypothyroidism and diabetic nephropathy.Endocrine Practice
Source: Medscape Today Headlines - Category: Consumer Health News Tags: Diabetes & Endocrinology Journal Article Source Type: news
CONCLUSIONS: Currently, there is insufficient high-quality evidence to inform women considering HRT after treatment for endometrial cancer. The available evidence (both the single RCT and non-randomised evidence) does not suggest significant harm, if HRT is used after surgical treatment for early-stage endometrial cancer. There is no information available regarding use of HRT in higher-stage endometrial cancer (FIGO stage II and above). The use of HRT after endometrial cancer treatment should be individualised, taking account of the woman's symptoms and preferences, and the uncertainty of evidence for and against HRT use. ...
Source: Cochrane Database of Systematic Reviews - Category: General Medicine Authors: Tags: Cochrane Database Syst Rev Source Type: research
Publication date: Available online 2 May 2018 Source:Multiple Sclerosis and Related Disorders Author(s): Simon B N Thompson, Alister Coleman, Nicola Williams Yawning is a significant behavioural response and, together with cortisol, is potentially a new diagnostic marker of neurological diseases. Evidence of an association between yawning and cortisol was found which supports the Thompson Cortisol Hypothesis and thermoregulation hypotheses, indication that brain cooling occurs when yawning. 117 volunteers aged 18-69 years were randomly allocated to experimentally controlled conditions to provoke yawning. Thirty-three had ...
Source: Multiple Sclerosis and Related Disorders - Category: Neurology Source Type: research
We examined the medical records of menopausal women aged between 45 and 79 years from Taiwan's National Health Insurance Research Database of records between 1 January 2000 and 31 December 2010 to establish matched cohorts (13,920 HRT users and 41,760 nonusers). The incidence of tinnitus in HRT users and nonusers were matched 1:3 based on propensity-score matching over this ten year period. The Cox regression hazard model was used to identify risk factors of tinnitus, and results indicate that a significantly lower percentage of HRT users (P = 0.017) developed tinnitus in comparison with nonusers (0.43%, 60/13, 920 vs. 0.5...
Source: Oncotarget - Category: Cancer & Oncology Tags: Oncotarget Source Type: research
Authors: Lozupone M, La Montagna M, D'Urso F, Piccininni C, Sardone R, Dibello V, Giannelli G, Solfrizzi V, Greco A, Daniele A, Quaranta N, Seripa D, Bellomo A, Logroscino G, Panza F Abstract INTRODUCTION: Pharmacotherapy for the treatment of depressive disorders in Alzheimer's Disease (AD) represents a clinical challenge. pharmacological options are often attempted after a period of watchful waiting (8-12 weeks). monoaminergic antidepressant drugs have shown only modest or null clinical benefits, maybe because the etiology of depressive symptoms in ad patients is fundamentally different from that of nondement...
Source: Expert Opinion on Pharmacotherapy - Category: Drugs & Pharmacology Tags: Expert Opin Pharmacother Source Type: research
We report a case of cerebellar atrophy in a 31 year old female whose detailed evaluation had revealed sub-clinical hypothyroidism secondary to autoimmune thyroiditis with a very high anti-TPO (anti-thyroid peroxidase) antibody levels. MRI (Magnetic Resonanace Imaging) of brain showed diffuse bilateral cerebellar atrophy. She was treated with thyroid hormone supplementation and after one year of follow up, cerebellar signs had disappeared completely with significant reduction in anti-TPO antibody levels. Imaging of the brain post one year of follow-up revealed normal cerebellum. Hence, we opine that thyroid dysfunction shou...
Source: Psychopharmacology Bulletin - Category: Psychiatry & Psychology Tags: Psychopharmacol Bull Source Type: research
(Natural News) Did you know that a nutrient that can benefit millions of women in the U.S. can be found in soybeans? To date, at least 40 million women in the country aged 51 and above are thinking of undergoing hormone replacement therapy (HRT) to address menopausal symptoms. However, HRT comes with various health risks. The pill-based solution...
Source: NaturalNews.com - Category: Consumer Health News Source Type: news
More News: Dairy | Diets | Girls | Hormone Replacement Therapy | Hormones | Internal Medicine | Men | Nutrition | Ovaries | Study | USA Health | Women