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https://www.readbyqxmd.com/read/28807454/reconsidering-olfactory-bulb-magnetic-resonance-patterns-in-kallmann-syndrome
#1
Thomas Hacquart, Aïcha Ltaief-Boudrigua, Cécile Jeannerod, Salem Hannoun, Gérald Raverot, Michel Pugeat, Aude Brac de la Perriere, Véronique Lapras, Frédérique Nugues, Catherine Dode, Francois Cotton
OBJECTIVE: The aim of this retrospective study was to perform magnetic resonance imaging assessment of olfactory pathway and skull base abnormalities in Kallmann syndrome (KS) patients with hypogonadotropic hypogonadism and olfaction disorder. METHODS: Magnetic resonance brain patterns were retrospectively studied in 19 patients clinically classified as KS. Qualitative assessment of olfactory bulb region comprised bulb atrophy and rectus and medial orbital gyrus ptosis; quantitative assessment measured olfactory fossa depth and width, sulcus depth and ethmoid angle...
August 11, 2017: Annales D'endocrinologie
https://www.readbyqxmd.com/read/28791186/a-case-of-male-osteoporosis-a-37-year-old-man-with-multiple-vertebral-compression-fractures
#2
Suhaib Radi, Andrew C Karaplis
While the contributing role of testosterone to bone health is rather modest compared to other factors such as estradiol levels, male hypogonadism is associated with low bone mass and fragility fractures. Along with stimulating physical puberty by achieving virilization and a normal muscle mass and improving psychosocial wellbeing, the goals of testosterone replacement therapy in male hypogonadism also include attainment of age-specific bone mineral density. We report on a 37-year-old man who presented with multiple vertebral compression fractures several years following termination of testosterone replacement therapy for presumed constitutional delay in growth and puberty...
2017: Case Reports in Endocrinology
https://www.readbyqxmd.com/read/28754744/klb-encoding-%C3%AE-klotho-is-mutated-in-patients-with-congenital-hypogonadotropic-hypogonadism
#3
Cheng Xu, Andrea Messina, Emmanuel Somm, Hichem Miraoui, Tarja Kinnunen, James Acierno, Nicolas J Niederländer, Justine Bouilly, Andrew A Dwyer, Yisrael Sidis, Daniele Cassatella, Gerasimos P Sykiotis, Richard Quinton, Christian De Geyter, Mirjam Dirlewanger, Valérie Schwitzgebel, Trevor R Cole, Andrew A Toogood, Jeremy Mw Kirk, Lacey Plummer, Urs Albrecht, William F Crowley, Moosa Mohammadi, Manuel Tena-Sempere, Vincent Prevot, Nelly Pitteloud
Congenital hypogonadotropic hypogonadism (CHH) is a rare genetic form of isolated gonadotropin-releasing hormone (GnRH) deficiency caused by mutations in > 30 genes. Fibroblast growth factor receptor 1 (FGFR1) is the most frequently mutated gene in CHH and is implicated in GnRH neuron development and maintenance. We note that a CHH FGFR1 mutation (p.L342S) decreases signaling of the metabolic regulator FGF21 by impairing the association of FGFR1 with β-Klotho (KLB), the obligate co-receptor for FGF21. We thus hypothesized that the metabolic FGF21/KLB/FGFR1 pathway is involved in CHH Genetic screening of 334 CHH patients identified seven heterozygous loss-of-function KLB mutations in 13 patients (4%)...
July 28, 2017: EMBO Molecular Medicine
https://www.readbyqxmd.com/read/28741070/late-onset-x-linked-adrenal-hypoplasia-dax-1-nr0b1-two-new-adult-onset-cases-from-a-single-center
#4
Nikolaos Kyriakakis, Tolulope Shonibare, Julie Kyaw-Tun, Julie Lynch, Carlos F Lagos, John C Achermann, Robert D Murray
PURPOSE: DAX-1 (NR0B1) is an orphan nuclear receptor, which plays a critical role in development and regulation of the adrenal gland and hypothalamo-pituitary-gonadal axis. Mutations in NR0B1 lead to adrenal hypoplasia congenita (AHC), hypogonadotropic hypogonadism (HH) and azoospermia in men. Presentation is typically with adrenal insufficiency (AI) during infancy or childhood. To date only eight cases/kindreds are reported to have presented in adulthood. METHODS: We describe two new cases of men with DAX-1 mutations who presented in adulthood and who were diagnosed at a large University Hospital...
July 24, 2017: Pituitary
https://www.readbyqxmd.com/read/28732253/diminished-ovarian-reserve-in-women-with-transfusion-dependent-beta-thalassemia-major-is-iron-gonadotoxic
#5
Aysel Uysal, Gül Alkan, Ayşegül Kurtoğlu, Onur Erol, Erdal Kurtoğlu
OBJECTIVE: Iron accumulation in the endocrine glands has been implicated in the aetiopathogenesis of decreased reproductive capacity in patients with beta-thalassemia major (β-TM). The aim of the current study was to investigate the serum concentration of anti-Müllerian hormone (AMH), a marker of ovarian reserve, in women with transfusion-dependent β-TM. STUDY DESIGN: In this case-control study, we recruited 43 women with transfusion-dependent TM and 44 age-matched healthy controls...
July 5, 2017: European Journal of Obstetrics, Gynecology, and Reproductive Biology
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
#6
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
#7
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
#8
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
#9
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...
2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/28698240/beyond-hormone-replacement-quality-of-life-in-women-with-congenital-hypogonadotropic-hypogonadism
#10
Shota Dzemaili, Jitske Tiemensma, Richard Quinton, Nelly Pitteloud, Diane Morin, Andrew A 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...
August 2017: Endocrine Connections
https://www.readbyqxmd.com/read/28694969/hypogonadotropic-hypogonadism-in-men-with-hereditary-hemochromatosis
#11
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
#12
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
#13
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...
September 2017: Current Opinion in Urology
https://www.readbyqxmd.com/read/28659543/sox2-nonsense-mutation-in-a-patient-clinically-diagnosed-with-non-syndromic-hypogonadotropic-hypogonadism
#14
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
#15
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
#16
Catarina I Gonçalves, José M Aragüés, Margarida Bastos, Luísa Barros, Nuno Vicente, Davide Carvalho, Manuel C Lemos
OBJECTIVE: Normosmic congenital hypogonadotropic hypogonadism (nCHH) is a rare disorder characterised 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...
August 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
#17
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...
July 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
#18
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
#19
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
#20
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
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