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https://www.readbyqxmd.com/read/28722251/alteration-in-the-relationship-between-tanycytes-and-gonadotropin-releasing-hormone-gnrh-neurosecretory-terminals-following-long-term-metabolic-manipulation-in-the-sheep
#1
Robert Pouchain Ribeiro Neto, Iain J Clarke, Gregory Conductier
The activity of the hypothalamo-pituitary gonadal (HPG) axis is influenced by energy reserves, such that an increase or a decrease in adiposity may perturb the secretion and action of GnRH. This is thought to be due to the signalling of hormones such as leptin, which act upon neuronal systems controlling GnRH secretion. Other work shows plasticity in the relationship between tanycytes and GnRH neurosecretory terminals in the median eminence across the estrous cycle and we hypothesised that similar plasticity may occur with altered metabolic status...
July 19, 2017: Journal of Neuroendocrinology
https://www.readbyqxmd.com/read/28721216/switch-to-restoration-therapy-in-a-testosterone-treated-central-hypogonadism-with-erythrocytosis
#2
B Cangiano, C Cacciatore, L Persani, M Bonomi
We describe a case of severe erythrocytosis caused by testosterone replacement therapy in a 66-year-old man affected with hypogonadotropic hypogonadism (HH) determining osteoporosis, resolved by switching to restoration therapy with clomiphene citrate. The patient complained fatigue, loss of libido and defective erections and a spontaneous vertebral fracture despite bisphosphonate therapy and vitamin D supplementation. The examinations proved isolated HH and he was therefore treated with testosterone gel with regression of specific manifestations but elevated hemoglobin and hematocrit values...
2017: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/28721129/anti-m%C3%A3-llerian-hormone-amh-as-a-good-predictor-of-time-of-menopause
#3
REVIEW
Aleksandra Kruszyńska, Jadwiga Słowińska-Srzednicka
Anti-Müllerian hormone (AMH) in women is secreted by granulosa cells in late preantral and small antral follicles. AMH seems to be a very stable marker having some advantages over other biochemical and biophysical markers and is very useful in the assessment of ovarian reserve. AMH measurement may be used in cases of premature ovarian failure, including iatrogenic, due to treatment for cancer, hypogonadotropic hypogonadism, and lastly, in polycystic ovary syndrome (PCOS). It is also a very specific marker of ovarian tumors - folliculomas...
June 2017: Przeglad Menopauzalny, Menopause Review
https://www.readbyqxmd.com/read/28700985/genes-involved-in-long-term-memory-are-expressed-in-testis-of-cryptorchid-boys-and-respond-to-gnrha-treatment
#4
Faruk Hadziselimovic, Katharina Gegenschatz-Schmid, Gilvydas Verkauskas, Philippe Demougin, Vytautas Bilius, Darius Dasevicius, Michael B Stadler
It has been known for many years that boys with unilateral or bilateral undescended testis (cryptorchidism) tend to have a low IQ, and those who belong to the high infertility risk (HIR) group perform less well at school than low infertility risk (LIR) patients. However, the molecular biological processes underlying this phenomenon are not understood. In this study, we report the outcome of testicular RNA profiling for genes involved in long-term memory formation. We analyzed the histology and the transcriptome of testicular biopsies from bilateral HIR cryptorchid boys, comparing those who received GnRHa treatment for 6 months after the first surgery with those who did not receive GnRHa before the second surgery...
July 13, 2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/28698240/beyond-hormone-replacement-quality-of-life-in-women-with-congenital-hypogonadotropic-hypogonadism
#5
Shota Dzemaili, Jitske Tiemensma, Richard Quinton, Nelly Pitteloud, Diane Morin, Andrew Dwyer
OBJECTIVE: Little is known about how women with isolated GnRH deficiency cope with their condition. This study aimed to examine the health and informational needs of women with congenital hypogonadotropic hypogonadism (CHH) and evaluate if their experiences differ from women with more common forms of infertility. DESIGN: Cross-sectional, multiple methods study using web-based data collection to reach dispersed rare disease patients. METHODS: A community-based participatory research framework was employed to develop an online survey and collect quantitative and qualitative data...
July 11, 2017: Endocrine Connections
https://www.readbyqxmd.com/read/28694969/hypogonadotropic-hypogonadism-in-men-with-hereditary-hemochromatosis
#6
Rabih El Osta, Nicolas Grandpre, Nicolas Monnin, Jacques Hubert, Isabelle Koscinski
Hereditary hemochromatosis is a genetic disease that progresses silently. This disease is often diagnosed late when complications appear. Hypogonadotropic hypogonadism (HH) is one of the classical complications of hemochromatosis. Its frequency is declining probably because of earlier diagnosis and better informed physicians. Certain symptoms linked to HH can have an impact on a patient's sexuality, such as decreased libido, erectile dysfunction, and impairment of ejaculation, as well as on his reproductive capacities...
2017: Basic and Clinical Andrology
https://www.readbyqxmd.com/read/28693284/%C3%AE-human-chorionic-gonadotropin-secreting-intracranial-germ-cell-tumor-associated-with-high-testosterone-in-an-adult-man-a-case-report
#7
Wen-Ping Yang, Hung-Yu Chien, Yi-Chun Lin
A 38-year-old male patient presented with general weakness, polydipsia and a body weight loss of 10 kg in two years. Hypopituitarism with central hypothyroidism and central adrenal insufficiency were noted at Taipei City Hospital (Taipei, Taiwan). However, hypogonadotropic hypergonadism was also observed. The patient was diagnosed with an intracranial β-human chorionic gonadotropin (β-hCG) secreting germ-cell tumor, and brain magnetic resonance imaging revealed that the tumor involved the pineal gland, stalk, posterior pituitary gland, right basal ganglion, hypothalamus, corpus callosum and posterior hippocampus...
July 2017: Oncology Letters
https://www.readbyqxmd.com/read/28661897/obesity-and-male-infertility
#8
Barbara E Kahn, Robert E Brannigan
PURPOSE OF REVIEW: The prevalence of obesity has risen steadily for the past 35 years and presently affects more than a third of the US population. A concurrent decline in semen parameters has been described, and a growing body of literature suggests that obesity contributes to the male infertility. The purpose of this review is to examine the effects of obesity on male fertility, the mechanisms by which impaired reproductive health arise, and the outcomes of treatment. RECENT FINDINGS: Obesity alters the hypothalamic-pituitary-gonadal axis both centrally and peripherally, resulting in hypogonadotropic, hyperestrogenic hypogonadism...
June 28, 2017: Current Opinion in Urology
https://www.readbyqxmd.com/read/28659543/sox2-nonsense-mutation-in-a-patient-clinically-diagnosed-with-non-syndromic-hypogonadotropic-hypogonadism
#9
Hirohito Shima, Akira Ishii, Yasunori Wada, Junya Kizawa, Tadashi Yokoi, Noriyuki Azuma, Yoichi Matsubara, Erina Suzuki, Akie Nakamura, Satoshi Narumi, Maki Fukami
Hypogonadotropic hypogonadism (HH) is a genetically heterogeneous condition that occurs either as an isolated disorder or as a component of congenital malformation syndromes. SOX2 is a causative gene of syndromic HH characterized by anophthalmia, microphthalmia, or coloboma and other neurological defects such as epilepsy. To date, the causal relationship between SOX2 abnormalities and non-syndromic HH remains speculative. Here, we identified a nonsense mutation of SOX2 in a male patient clinically diagnosed with non-syndromic HH...
June 28, 2017: Endocrine Journal
https://www.readbyqxmd.com/read/28617965/further-delineation-of-the-phenotype-caused-by-biallelic-variants-in-the-wdr4-gene
#10
Aurélien Trimouille, Eulalie Lasseaux, Pascal Barat, Caroline Deiller, Séverine Drunat, Caroline Rooryck, Benoît Arveiler, Didier Lacombe
Microcephalic primordial dwarfisms are a group of rare Mendelian disorders characterized by severe growth retardation and microcephaly. The molecular basis is heterogeneous, with disease-causing genes implicated in different cellular functions. Recently, 2 patients were reported with the same homozygous variant in the WDR4 gene, coding for an enzyme responsible for the m(7) G46 post transcriptional modification of tRNA. We report here two sisters harboring compound heterozygous variants of WDR4. Their phenotype differs from that of the first two described patients: they both have a severe microcephaly but only one of the two sisters had a head circumference at birth below -2 SD, their intellectual deficiency is less severe, and they have a GH deficiency and a partial hypogonadotropic hypogonadotropism...
June 15, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28611058/gnrhr-biallelic-and-digenic-mutations-in-patients-with-normosmic-congenital-hypogonadotropic-hypogonadism
#11
Catarina Inês Gonçalves, José Maria Aragüés, Margarida Bastos, Luísa Barros, Nuno Vicente, Davide Carvalho, Manuel C Lemos
Objective: Normosmic congenital hypogonadotropic hypogonadism (nCHH) is a rare disorder characterized by lack of pubertal development and infertility, due to deficient production, secretion or action of gonadotropin-releasing hormone (GnRH) and, unlike Kallmann syndrome, is associated with a normal sense of smell. Mutations in the GNRHR gene cause autosomal recessive nCHH. The aim of this study was to determine the prevalence of GNRHR mutations in a group of 40 patients with nCHH. Design: Cross sectional study of 40 unrelated patients with nCHH...
June 13, 2017: Endocrine Connections
https://www.readbyqxmd.com/read/28589476/endometrial-thickness-influences-neonatal-birth-weight-in-pregnancies-with-obstetric-complications-achieved-after-fresh-ivf-icsi-cycles
#12
Rebecca Moffat, Sjanneke Beutler, Andreas Schötzau, Maria De Geyter, Christian De Geyter
PURPOSE: Pregnancy-associated complications, duration of gestation and parity are well-known predictors of neonatal birth weight. Assisted reproductive technology (ART) affects neonatal birth weight as well. Endometrial thickness as measured on the day of HCG triggering may therefore impact on the neonatal birth weight. METHODS: The data of 764 singleton deliveries achieved after fresh transfer between November 1997 and 2014 were collected retrospectively with the intention to analyze the relationship of maternal and neonatal characteristics with endometrial thickness and the possible predictive value of endometrial thickness on neonatal birth weight...
June 6, 2017: Archives of Gynecology and Obstetrics
https://www.readbyqxmd.com/read/28583920/idiopathic-hypogonadotropic-hypogonadism-reversal-after-testosterone-replacement-in-a-34-year-old-male
#13
Owais Rashid, Nanik Ram, Saad Farooq, Zareen Kiran
A 34-year-old male presented to the endocrinology clinic with the complaint of the absence of facial, axillary and pubic hairs. Further history revealed absent ejaculations and decreased early morning erections. The patient had no history of headaches, visual problems or anosmia. On physical examination, there were sparse facial, axillary and pubic hairs, bilateral gynaecomastia, stretch penile length of 5 cm and bilateral testicular volume of 10 mL. Laboratory investigations showed low luteinising hormone, follicular stimulating hormone and testosterone with normal prolactin and thyroid profile...
June 5, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28561206/4h-leukodystrophy-a-brain-magnetic-resonance-imaging-scoring-system
#14
Suzanne Vrij-van den Bos, Janna A Hol, Roberta La Piana, Inga Harting, Adeline Vanderver, Frederik Barkhof, Ferdy Cayami, Wessel N van Wieringen, Petra J W Pouwels, Marjo S van der Knaap, Geneviève Bernard, Nicole I Wolf
4H (hypomyelination, hypodontia and hypogonadotropic hypogonadism) leukodystrophy (4H) is an autosomal recessive hypomyelinating white matter (WM) disorder with neurologic, dental, and endocrine abnormalities. The aim of this study was to develop and validate a magnetic resonance imaging (MRI) scoring system for 4H. A scoring system (0-54) was developed to quantify hypomyelination and atrophy of different brain regions. Pons diameter and bicaudate ratio were included as measures of cerebral and brainstem atrophy, and reference values were determined using controls...
June 2017: Neuropediatrics
https://www.readbyqxmd.com/read/28537047/comparison-of-the-ratio-of-the-lenght-of-the-second-and-fourth-digits-in-subgroups-of-fertile-and-infertile-cases
#15
Emre Can Akinsal, Abdullah Demirtas, Oguz Ekmekcioglu
PURPOSE: To identify any relationship between known reasons of male infertility and 2D:4D ratio. MATERIALS AND METHODS: A total of 371 males were included in the study. The cases were grouped into 6 groups including sperm count < 5 million/mL, sperm count ≥ 5 million/mL, Klinefelter Syndrome, hypogonadotropic hypogonadism, vasal agenesis and control. Groups were compared with each other in terms of 2D:4D ratios and groups with a 2D:4D ratios below 1 and equal/above 1 were compared...
May 23, 2017: Urology Journal
https://www.readbyqxmd.com/read/28505621/gnrha-treatment-of-cryptorchid-boys-affects-genes-involved-in-hormonal-control-of-the-hpg-axis-and-fertility
#16
Faruk Hadziselimovic, Katharina Gegenschatz-Schmid, Gilvydas Verkauskas, Philippe Demougin, Vytautas Bilius, Darius Dasevicius, Michael B Stadler
The gonadotropin-releasing hormone agonist (GnRHa; Buserelin) rescues fertility during adulthood in the majority of high infertility risk cryptorchid boys presenting with defective mini-puberty. However, the molecular events governing this effect are not understood. We report the outcome of an RNA profiling analysis of testicular biopsies from 4 operated patients who were treated with GnRHa for 6 months versus 3 operated controls who were not treated. GnRHa induces a significant transcriptional response, including protein-coding genes involved in pituitary development, the hypothalamic-pituitary-gonadal axis, and testosterone synthesis...
2017: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://www.readbyqxmd.com/read/28485664/controlled-ovarian-stimulation-and-ivf-pregnancy-in-a-trisomy-x-carrier-with-associated-hypogonadotropic-hypogonadism
#17
Claudia Massarotti, Patrizia Fiorio, Roberto Gastaldi, Lucia Rosaia De Santis, Daniela Pastorino, Valentino Remorgida, Paola Anserini
We describe successful controlled ovarian stimulation (COS) and the first known IVF pregnancy in a trisomy X carrier with associated hypogonadotropic hypogonadism (HH) linked to a chromosome 4 double mutation in the allele of the Gonadotropins Releasing Hormone receptor (GnRHr) gene. Previous administration of low dose of gonadotropins, as recommended in patients with HH, led to poor follicular recruitment. Since trisomy X is a risk factor for diminished ovarian reserve (DOR) and premature ovarian insufficiency (POI), higher doses of gonadotropins led to better ovarian response...
May 9, 2017: Gynecological Endocrinology
https://www.readbyqxmd.com/read/28476224/molecular-and-genetic-aspects-of-congenital-isolated-hypogonadotropic-hypogonadism
#18
REVIEW
Lorena Guimaraes Lima Amato, Ana Claudia Latronico, Leticia Ferreira Gontijo Silveira
Congenital isolated hypogonadotropic hypogonadism (IHH) is a clinically and genetically heterogenous disorder characterized by abnormal synthesis, secretion, or action of gonadotropin-releasing hormone, a key hypothalamic decapeptide that orchestrates the reproductive axis. Several modes of inheritance have been identified. A growing list of causative genes has been implicated in the molecular pathogenesis of syndromic and nonsyndromic IHH, largely contributing for better understanding the complex neuroendocrine control of reproduction...
June 2017: Endocrinology and Metabolism Clinics of North America
https://www.readbyqxmd.com/read/28443261/diabetes-mellitus-caused-by-secondary-hemochromatosis-after-multiple-blood-transfusions-in-2-patients-with-severe-aplastic-anemia
#19
Hyun Jin Kim, Yoon-Myung Kim, Eungu Kang, Beom Hee Lee, Jin-Ho Choi, Han-Wook Yoo
Hemochromatosis is an inherited or secondary disorder caused by excessive iron storage leading to multiple organ damage. We describe 2 patients with diabetes mellitus caused by hemochromatosis secondary to multiple blood transfusions due to severe aplastic anemia. Subject 1, who was diagnosed with severe aplastic anemia at 15 years of age, received multiple red blood cell transfusions before he underwent autologous peripheral blood stem cell transplantation (PBSCT) at 22 years of age. At 21 years of age, hyperglycemia was detected with increased hemoglobin A1c and serum ferritin levels, 9...
March 2017: Annals of Pediatric Endocrinology & Metabolism
https://www.readbyqxmd.com/read/28438051/similarity-of-female-central-hypogonadotropic-hypogonadism-and-postmenopause
#20
I Ilovayskaya, V Zektser, L Lazebnik
OBJECTIVES: Central (hypogonadotropic) hypogonadism in women could be a cause of persistent amenorrhea and hypoestrogenemia as observed in postmenopause. This study aimed to compare the clinical, hormonal and biochemical features in women with non-physiological (central hypogonadism) and physiological (postmenopause) hypoestrogenemia. METHODS: A total of 161 young women, median age 24.9 years (interquartile range (IQR) 21.2; 30.5) with central hypogonadism (with isolated hypogonadotropic hypogonadism, n = 76, and with hypopituitarism, n = 85), 53 healthy young women, median age 23...
August 2017: Climacteric: the Journal of the International Menopause Society
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