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Hypogonadotropic hypogonadism

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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
#1
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
#2
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...
May 16, 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
#3
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
#4
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
#5
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
#6
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...
April 24, 2017: Climacteric: the Journal of the International Menopause Society
https://www.readbyqxmd.com/read/28423475/primary-lymphocytic-hypophysitis-clinical-characteristics-and-treatment-of-50-cases-in-a-single-centre-in-china-over-18-years
#7
Shuchang Wang, Linjie Wang, Yong Yao, Feng Feng, Hongbo Yang, Zhiyong Liang, Kan Deng, Hui You, Jian Sun, Bing Xing, Zimeng Jin, Renzhi Wang, Hui Pan, Huijuan Zhu
OBJECTIVE: Primary lymphocytic hypophysitis (LYH) is rare, and it is often evaluated in a small case series. This study aimed to describe the diagnosis and treatment of primary LYH in a larger cohort. DESIGN: A retrospective study of the diagnosis and treatment of primary LYH was conducted at Peking Union Medical College Hospital from 1999 to 2016. PATIENTS: Fifty patients (28 histologically diagnosed and 22 clinically-diagnosed) were eligible for inclusion...
April 19, 2017: Clinical Endocrinology
https://www.readbyqxmd.com/read/28411082/a-dominant-negative-fgfr1-mutation-identified-in-a-kallmann-syndrome-patient
#8
Hunjin Luo, Ruizhi Zheng, Yaguang Zhao, Jiayu Wu, Jie Li, Fang Jiang, Dan-Na Chen, Xiao-Tao Zhou, Jia-Da Li
Kallmann syndrome (KS) is characterized by isolated hypogonadotropic hypogonadism (IHH) with anosmia. Fibroblast growth factor receptor 1 (FGFR1) is one of KS-associated genes, accounts for approximately 10% of total patients. FGFR1 mutations have also been identified in more severe craniosynostosis syndromes, and a subset of craniosynostosis syndromes-associated FGFR1 mutations show dominant negative effect. In this study, we identified a novel FGFR1 mutation (c.867G>A; p.W289X) in a KS patient. The p.W289X mutation leads premature termination, producing a truncated FGFR1 without the transmembrane and intracellular domains...
July 20, 2017: Gene
https://www.readbyqxmd.com/read/28368486/pulsatile-gnrh-therapy-may-restore-hypothalamus-pituitary-testis-axis-function-in-patients-with-congenital-combined-pituitary-hormone-deficiency-a-prospective-self-controlled-trial
#9
Junjie Zheng, Jangfeng Mao, Hongli Xu, Xi Wang, Bingkun Huang, Zhaoxiang Liu, Mingxuan Cui, Shuyu Xiong, Wanlu Ma, Le Min, Ursula B Kaiser, Min Nie, Xueyan Wu
Context: The effectiveness of pulsatile gonadotropin-releasing hormone (GnRH) therapy in congenital combined pituitary hormone deficiency (CCPHD) patients has not been investigated due to the limited number of patients as well as these patients' presumed pituitary hypoplasia, poor gonadotrophic cell reserve, and impaired gonadotrophic response to GnRH. Objective: To assess the pituitary response to pulsatile GnRH therapy in men with CCPHD. Design: A prospective, self-controlled, 3 months clinical trial...
March 27, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28346917/endocrine-long-term-follow-up-of-children-with-neurofibromatosis-type-1-and-optic-pathway-glioma%C3%A2
#10
Ilaria Sani, Assunta Albanese
BACKGROUND/AIMS: Children with optic pathway glioma (OPG) face sequelae related to tumour location and treatment modalities. We aimed to assess the prevalence of hypothalamic-pituitary dysfunctions in children with neurofibromatosis type 1 (NF1) and OPG who did not receive radiotherapy or surgical resection. The causative role of tumour location on endocrinopathy development is investigated. METHODS: A retrospective follow-up study of 40 children with NF1 and OPG evaluated between August 1996 and May 2015 was undertaken...
2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/28326739/a-case-of-pituitary-stalk-interruption-syndrome-with-intermittent-seizures-as-the-first-presentation
#11
Juan Li, Hongwei Jia, Anindita Chakraborty, Zhihong Gao
Pituitary stalk interruption syndrome (PSIS) is a congenital disease with isolated growth hormone deficiency (GHD) or multiple anterior pituitary hormone deficiencies (MPHD). The typical clinical manifestations of PSIS are growth retardation, hypoglycemia or delayed pubertal development. However, few reports showed cases of PSIS were diagnosed with acute epileptic seizures accompanied by hyponatremia. Here, we report an 18-year-old female presenting with episodes of intermittent seizures for 13 years. The electrolyte examination on many occasions has shown hyponatremia, even as low as 99...
December 2016: Neuro Endocrinology Letters
https://www.readbyqxmd.com/read/28326187/a-novel-c-terminal-truncating-nr5a1-mutation-in-dizygotic-twins
#12
Atsushi Hattori, Hiroaki Zukeran, Maki Igarashi, Suzuka Toguchi, Yuji Toubaru, Takanobu Inoue, Yuko Katoh-Fukui, Maki Fukami
Nuclear receptor subfamily 5, group A, member 1 (NR5A1) is a nuclear receptor involved in gonadal and adrenal development. We identified a novel C-terminally truncating NR5A1 mutation, p.Leu423Trpfs*7, in dizygotic twins with 46,XY disorders of sex development. Our results highlight the functional importance of C-terminal region of NR5A1 and indicate that NR5A1 mutations can be associated with intrafamilial phenotypic variations, progressive testicular dysfunction, hypogonadotropic hypogonadism, and borderline adrenal dysfunction...
2017: Human Genome Variation
https://www.readbyqxmd.com/read/28324054/ccdc141-mutations-in-idiopathic-hypogonadotropic-hypogonadism
#13
Ihsan Turan, B Ian Hutchins, Bulent Hacihamdioglu, L Damla Kotan, Fatih Gurbuz, Ayca Ulubay, Eda Mengen, Bilgin Yuksel, Susan Wray, A Kemal Topaloglu
Context: GnRH neurons originate outside the central nervous system in the olfactory placode and migrate into the CNS, becoming integral components of the hypothalamic-pituitary-gonadal axis. Failure of this migration can lead to Idiopathic Hypogonadotropic Hypogonadism (IHH)/Kallmann Syndrome (KS). We have previously shown that CCDC141 knockdown leads to impaired migration of GnRH neurons but not of olfactory receptor neurons. Objective: The aim of this study was to further describe the phenotype and prevalence of CCDC141 mutations in IHH/KS...
January 23, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28324034/anti-m%C3%A3-llerian-hormone-and-ovarian-morphology-in-women-with-isolated-hypogonadotropic-hypogonadism-kallmann-syndrome-effects-of-recombinant-human-fsh
#14
Hélène Bry-Gauillard, Florence Larrat-Ledoux, Jean-Marc Levaillant, Nathalie Massin, Luigi Maione, Isabelle Beau, Nadine Binart, Philippe Chanson, Sylvie Brailly-Tabard, Janet E Hall, Jacques Young
Context: Isolated hypogonadotropic hypogonadism (IHH), characterized by gonadotropin deficiency and absent puberty, is very rare in women. IHH prevents pubertal ovarian stimulation, but anti-Müllerian hormone (AMH) and antral follicle count (AFC) have not been studied. Objectives: (1) To compare, in IHH vs controls, AMH, ovarian volume (OV), and AFC. (2) To compare, in IHH, ovarian responses to recombinant human follicle-stimulating hormone (rhFSH) and rhFSH plus recombinant human luteinizing hormone (rhLH)...
April 1, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28320476/developing-and-evaluating-rare-disease-educational-materials-co-created-by-expert-clinicians-and-patients-the-paradigm-of-congenital-hypogonadotropic-hypogonadism
#15
Corin Badiu, Marco Bonomi, Ivan Borshchevsky, Martine Cools, Margarita Craen, Cristina Ghervan, Michael Hauschild, Eli Hershkovitz, Erik Hrabovszky, Anders Juul, Soo-Hyun Kim, Phillip Kumanov, Beatriz Lecumberri, Manuel C Lemos, Vassos Neocleous, Marek Niedziela, Sandra Pekic Djurdjevic, Luca Persani, Franziska Phan-Hug, Duarte Pignatelli, Nelly Pitteloud, Vera Popovic, Richard Quinton, Nicos Skordis, Neil Smith, Magdalena Avbelj Stefanija, Cheng Xu, Jacques Young, Andrew A Dwyer
BACKGROUND: Patients with rare diseases face health disparities and are often challenged to find accurate information about their condition. We aimed to use the best available evidence and community partnerships to produce patient education materials for congenital hypogonadotropic hypogonadism (CHH) and the olfacto-genital (Kallmann) syndrome (i.e., CHH and defective sense of smell), and to evaluate end-user acceptability. Expert clinicians, researchers and patients co-created the materials in a multi-step process...
March 20, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28288899/kisspeptin-10-treatment-generated-specific-gnrh-expression-in-cells-differentiated-from-rhesus-monkey-derived-lyon-nscs
#16
Tanzeel Huma, Xintian Hu, Yuanye Ma, Andrew Willden, Joshua Rizak, Muhammad Shahab, Zhengbo Wang
Embryonic stem cells (ESCs) have enormous potential as novel cell-based therapies, but their effectiveness depends on stem cell differentiation and specific signaling regulators, which remain poorly understood. In this study, a kisspeptin peptide (KP-10) was used at different dosages to determine whether rhesus macaque-derived tau GFP-Lyon ES cells underwent kisspeptin-specific neuronal differentiation. It was found that KP-10 exhibited an anti-proliferative effect on the cells and led to morphological changes and cellular differentiation consistent with neuronal stem cell (NSC) development...
March 10, 2017: Neuroscience
https://www.readbyqxmd.com/read/28284037/a-novel-dax-1-mutation-in-two-male-siblings-presenting-with-precocious-puberty-and-late-onset-hypogonadotropic-hypogonadism
#17
Yanxia Liu, Jinlei Yuan, Huijuan Zhang, Yanyan Jiang, Guijun Qin
Background The DAX-1 gene is associated with X-linked adrenal hypoplasia congenita (AHC). Our objective was to compare the DAX-1 gene sequence of two male siblings exhibiting different clinical manifestations of AHC. Methods Clinical features were analyzed and laboratory data were collected from both siblings. Genomic DNA was extracted from the peripheral blood leukocytes of the siblings and their parents and the DAX-1 gene exons and intron-flanking regions were amplified by the polymerase chain reaction. The DAX-1 gene sequences were compared following sequencing...
March 1, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28277105/the-induction-of-ovulation-by-pulsatile-administration-of-gnrh-an-appropriate-method-in-hypothalamic-amenorrhea
#18
Fotini Christou, Nelly Pitteloud, Fulgencio Gomez
The induction of ovulation by the means of a pump which assures the pulsatile administration of GnRH is a well-known method that applies to women suffering from amenorrhea of hypothalamic origin. Although a simple and efficient method to establish fertility, it is underused. Twelve patients suffering from this condition, 1 Kallmann syndrome, 4 normosmic isolated hypogonadotropic hypogonadism, and 7 functional hypothalamic amenorrhea desiring pregnancy were treated. They underwent one or more cycles of pulsatile GnRH, at a frequency of 90 minutes, either by the intravenous or the subcutaneous route...
March 6, 2017: Gynecological Endocrinology
https://www.readbyqxmd.com/read/28270212/an-open-label-clinical-trial-to-investigate-the-efficacy-and-safety-of-corifollitropin-alfa-combined-with-hcg-in-adult-men-with-hypogonadotropic-hypogonadism
#19
Eberhard Nieschlag, Pierre-Marc G Bouloux, Barbara J Stegmann, R Ravi Shankar, Yanfen Guan, Anjela Tzontcheva, Christine McCrary Sisk, Hermann M Behre
BACKGROUND: Hypogonadotropic hypogonadism (HH) in men results in insufficient testicular function and deficiencies in testosterone and spermatogenesis. Combinations of human chorionic gonadotropin (hCG) and recombinant follicle-stimulating hormone (recFSH) have been successful in the treatment of HH. Corifollitropin alfa is a long-acting FSH-analog with demonstrated action in women seeking infertility care. The aim of this study was to investigate the efficacy and safety of corifollitropin alfa combined with hCG to increase testicular volume and induce spermatogenesis in men with HH...
March 7, 2017: Reproductive Biology and Endocrinology: RB&E
https://www.readbyqxmd.com/read/28261833/diagnostic-utility-of-testosterone-priming-prior-to-dynamic-tests-to-differentiate-constitutional-delay-in-puberty-from-isolated-hypogonadotropic-hypogonadism
#20
Suja P Sukumar, Anil Bhansali, Naresh Sachdeva, Chirag Kamal Ahuja, Ujjwal Gorsi, Kush Dev Singh Jarial, Rama Walia
CONTEXT: Differentiation between constitutional delay in puberty (CDP) and isolated hypogonadotropic hypogonadism (IHH) during adolescence is a great clinical challenge, and the available diagnostic tests are of limited value. OBJECTIVE: To study the effect of withdrawal of short-term, low-dose testosterone therapy (testosterone priming) on the discriminatory power of dynamic tests for hypothalamo-pituitary-testicular axis to differentiate CDP from IHH. DESIGN: A prospective study (n = 30) consisting of 20 boys with delayed puberty (group A) and 10 patients with IHH (group B)...
March 5, 2017: Clinical Endocrinology
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