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Hypogonadotropic hypogonadism

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https://www.readbyqxmd.com/read/29462708/diversity-of-pubertal-development-in-cartilage-hair-hypoplasia-two-illustrative-cases
#1
Elina Holopainen, Svetlana Vakkilainen, Outi Mäkitie
BACKGROUND: Cartilage-hair hypoplasia (CHH) is a rare chondrodysplasia, including disproportionate short stature, hypoplastic hair, immunodeficiency and increased risk of malignancies. Absent pubertal growth spurt and absent pubic hair complicate monitoring of pubertal development in these patients. CASES: Two CHH patients with delayed puberty and excessive growth failure are described. One of the girls had hypogonadotropic hypogonadism while the other had hypo-normogonadotropic hypogonadism with no spontaneous pubertal development and slow response to estrogen therapy, both requiring permanent replacement therapy...
February 17, 2018: Journal of Pediatric and Adolescent Gynecology
https://www.readbyqxmd.com/read/29459401/low-dose-gonadotropin-induction-of-ovulation-in-anovulatory-women-still-needed-in-the-age-of-ivf
#2
Davinia White, Kate Hardy, Suzannah Lovelock, Stephen Franks
Low-dose, step-up gonadotropin is the treatment of choice for women with PCOS who have not conceived after anti-estrogen treatment, and as an effective alternative to pulsatile GnRH in women with hypogonadotropic hypogonadism (HH). There has been, however, no large-scale, comparative study between the two groups using low-dose gonadotropins. Here we performed a retrospective, comparative analysis, in a single clinic database, of efficacy and safety of induction of ovulation using low-dose gonadotropins in 364 Women with PCOS and 80 women with HH...
February 19, 2018: Reproduction: the Official Journal of the Society for the Study of Fertility
https://www.readbyqxmd.com/read/29458121/the-paradox-of-marrow-adipose-tissue-in-anorexia-nervosa
#3
Pouneh K Fazeli, Anne Klibanski
Anorexia nervosa (AN) is a psychiatric disorder characterized by inappropriate nutrient intake resulting in low body weight. Multiple hormonal adaptations facilitate decreased energy expenditure in this state of caloric deprivation including non-thyroidal illness syndrome, growth hormone resistance, and hypogonadotropic hypogonadism. Although these hormonal adaptations confer a survival advantage during periods of negative energy balance, they contribute to the long-term medical complications associated with AN, the most common of which is significant bone loss and an increased risk of fracture...
February 16, 2018: Bone
https://www.readbyqxmd.com/read/29452377/discordance-in-the-dependence-on-kisspeptin-signaling-in-mini-puberty-vs-adolescent-puberty-human-genetic-evidence
#4
Muhammad Shahab, Margaret Lippincott, Yee-Ming Chan, Addie Davies, Paulina M Merino, Lacey Plummer, Veronica Mericq, Stephanie Seminara
Context: Hypothalamic kisspeptin signaling plays a critical role in the initiation and maintenance of reproductive function. Biallelic mutations in the coding sequence of KISS1R (GPR54) have been identified in patients with idiopathic hypogonadotropic hypogonadism (IHH), but it is unknown whether biallelic variants can also be associated with related reproductive disorders. Case description: A missense homozygous variant (c.890G>T p.R297L) in KISS1R was identified in a child who presented with microphallus and bilateral cryptorchidism...
February 14, 2018: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29441621/novel-interstitial-deletion-in-xp22-3-in-a-typical-x-linked-recessive-family-with-kallmann-syndrome
#5
Y Niu, C Zhou, H Xu, D Wang, Y Chen, Z Li, T Wang, G Pokhrel, D W Wang, J Liu
Kallmann syndrome (KS) is a clinically and genetically heterogeneous condition characterised by hypogonadotropic hypogonadism with anosmia or hyposmia. More than nineteen genes causing KS have been reported to date. KAL1, first identified to causing the X-linked form of KS, accounts for 10%-20% of KS patients. In this study, we designed a panel including 17 known genes causing KS for genetic diagnosis and research and report a typical and rare family of which three generations had been affected by KS. A novel CNV in Xp22...
February 14, 2018: Andrologia
https://www.readbyqxmd.com/read/29436143/infertility-treatment-strategy-involving-combined-freeze-all-embryos-and-single-vitrified-warmed-embryo-transfer-during-hormonal-replacement-cycle-for-in-vitro-fertilization-of-women-with-hypogonadotropic-hypogonadism
#6
Keiji Kuroda, Kenji Ezoe, Keiichi Kato, Akiko Yabuuchi, Tomoya Segawa, Tamotsu Kobayashi, Asako Ochiai, Noriko Katoh, Satoru Takeda
AIM: Hypogonadotropic hypogonadism (HH) is a condition caused by the deficient secretion of pituitary gonadotropins, leading to diminished ovarian function. Several studies of in vitro fertilization (IVF) in women with HH revealed acceptable clinical pregnancy outcomes but high multiple pregnancy rates after multiple fresh embryo transfer (ET). The purpose of this study was to analyze the outcomes of combined freeze-all embryos and single vitrified-warmed ET in women with HH. METHODS: Of 91 infertile women with HH (basal luteinizing hormone and follicle-stimulating hormone levels <2...
February 13, 2018: Journal of Obstetrics and Gynaecology Research
https://www.readbyqxmd.com/read/29432577/sema3a-plays-a-role-in-the-pathogenesis-of-charge-syndrome
#7
Roser Ufartes, Janina Schwenty-Lara, Luisa Freese, Christiane Neuhofer, Janika Möller, Peter Wehner, Conny M A van Ravenswaaij-Arts, Monica T Y Wong, Ina Schanze, Andreas Tzschach, Oliver Bartsch, Annette Borchers, Silke Pauli
CHARGE syndrome is an autosomal dominant malformation disorder caused by heterozygous loss of function mutations in the chromatin remodeler CHD7. Chd7 regulates the expression of Sema3a, which also contributes to the pathogenesis of Kallmann syndrome, a heterogeneous condition with the typical features hypogonadotropic hypogonadism and an impaired sense of smell. Both features are common in CHARGE syndrome suggesting that SEMA3A may provide a genetic link between these syndromes. Indeed, we find evidence that SEMA3A plays a role in the pathogenesis of CHARGE syndrome...
February 8, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29430665/health-related-physical-fitness-and-quality-of-life-in-men-with-congenital-hypogonadotropic-hypogonadism
#8
K S L Mileski, M Bottaro, L G Grossi-Porto, A Lofrano-Porto
Congenital hypogonadotropic hypogonadism is a rare disorder characterised by impaired testosterone secretion since birth, and represents a valuable model for studying the effects of testosterone replacement therapy (TRT) in humans. This cross-sectional study aimed to investigate all health-related physical fitness (HRPF) components and quality of life in a series of eight men with hypogonadotropic hypogonadism under regular TRT. The study group was compared to a control group of 16 healthy subjects paired for age, body mass index and physical activity...
February 11, 2018: Andrologia
https://www.readbyqxmd.com/read/29419413/congenital-hypogonadotropic-hypogonadism-and-constitutional-delay-of-growth-and-puberty-have-distinct-genetic-architectures
#9
Daniele Cassatella, Sasha Howard, James Acierno, Cheng Xu, Georgios Papadakis, Federico A Santoni, Andrew A Dwyer, Sara Santini, Gerasimos Sykiotis, Caroline Chambion, Jenny Meylan, Laura Marino, Lucie Favre, Jiankang Li, Xuanzhu Liu, Jian-Guo Zhang, Pierre Bouloux, Christian De Geyter, Anne De Paepe, Waljit S Dhillo, Jean-Marc Ferrara, Michael Hauschild, Mariarosaria Lang-Muritano, Johannes Lemke, Christa E Flück, Attila Nemeth, Franziska Phan-Hug, Duarte Pignatelli, Vera Popovic, Sandra Pekic, Richard Quinton, Gabor Szinnai, Dagmar l'Allemand, Daniel Konrad, Saba Sharif, Özlem Turhan Iyidir, Brian J Stevenson, Huanming Yang, Leo Dunkel, Nelly Pitteloud
OBJECTIVE: Congenital hypogonadotropic hypogonadism (CHH) and constitutional delay of growth and puberty (CDGP) represent rare and common forms of GnRH deficiency, respectively. Both CDGP and CHH present with delayed puberty, and the distinction between these two entities during early adolescence is challenging. More than 30 genes have been implicated with CHH, while the genetic basis of CDGP is poorly understood. DESIGN: We characterized and compared the genetic architectures of CHH and CDGP, to test the hypothesis of a shared genetic basis between these disorders...
February 1, 2018: European Journal of Endocrinology
https://www.readbyqxmd.com/read/29389675/recovery-from-reproductive-impact-of-androgen-abuse
#10
Maria A Christou, Stelios Tigas
PURPOSE OF REVIEW: To summarize recent data on the adverse reproductive consequences of androgen abuse, focusing on the recovery of reproductive function following androgen discontinuation. RECENT FINDINGS: Evidence is mostly based on case reports and observational studies. Androgen abuse leads to a state of hypogonadotropic hypogonadism associated with impaired spermatogenesis, testicular atrophy, gynecomastia as well as menstrual irregularities, virilization and subfertility...
January 31, 2018: Current Opinion in Endocrinology, Diabetes, and Obesity
https://www.readbyqxmd.com/read/29384142/endogenous-testosterone-and-mortality-risk
#11
REVIEW
Emily J Meyer, Gary Wittert
In men, obesity and metabolic complications are associated with lower serum testosterone (T) and dihydrotestosterone (DHT) and an increased risk of, and mortality from, multiple chronic diseases in addition to cardiovascular disease (CVD). The causal interrelationships between these factors remain a matter of debate. In men with untreated congenital and lifelong forms of hypogonadotropic hypogonadism, there appears to be no increased risk. Men with Klinefelter's syndrome have an increased risk of various types of cancers, as well as CVD, which persist despite T therapy...
January 30, 2018: Asian Journal of Andrology
https://www.readbyqxmd.com/read/29380696/kisspeptin-and-its-effect-on-mammalian-spermatogensis
#12
Tao Feng, Jiahua Bai, Xiaoling Xu, Yan Liu
Kisspeptin and its receptor, GPR54, are regarded as key regulators of and catalysts for male puberty onset, and also fundamental gatekeepers of spermatogenesis in mammals. Consequently, the loss function of kisspeptin or GPR54 leads to a symptom of hypogonadotropic hypogonadism (HH) in human and HH accompanied by lower gonadotrophic hormone levels, smaller testes, impaired spermatogenesis and abnormal sexual maturation in mice. Besides its well- recognized functions in hypothalamus before and during puberty, accumulating data strongly support kisspeptin production in tests, and participation in somatic and germ cell development and sperm functions as well...
January 28, 2018: Current Drug Metabolism
https://www.readbyqxmd.com/read/29373985/reversal-of-end-stage-heart-failure-in-juvenile-hemochromatosis-with-iron-chelation-therapy-a-case-report
#13
Shamil D Cooray, Neel M Heerasing, Laura A Selkrig, V Nathan Subramaniam, P Shane Hamblin, Cameron J McDonald, Catriona A McLean, Elissa McNamara, Angeline S Leet, Stuart K Roberts
BACKGROUND: Juvenile hemochromatosis is the most severe form of iron overloading phenotype. Although rare, it should be suspected in patients who present with hypogonadotropic hypogonadism, diabetes mellitus, or cardiomyopathy without a clear cause. CASE PRESENTATION: A young Serbian male presenting with end-stage heart failure was referred for extracorporeal membrane oxygenation. An endomyocardial biopsy revealed cytoplasmic iron deposits in myocytes. His condition was stabilized with biventricular assist devices and he was listed for heart transplantation...
January 26, 2018: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/29371155/sox2-not-always-eye-malformations-severe-genital-but-no-major-ocular-anomalies-in-a-female-patient-with-the-recurrent-c-70del20-variant
#14
Edoardo Errichiello, Cristina Gorgone, Loretta Giuliano, Barbara Iadarola, Emanuela Cosentino, Marzia Rossato, Nehir Edibe Kurtas, Massimo Delledonne, Teresa Mattina, Orsetta Zuffardi
SOX2 variants have been identified in multiple patients with severe ocular anomalies and pituitary dysfunction, in addition to various systemic features. We investigated a 26-year-old female patient suffering from spastic paraparesis, hypoplasia of corpus callosum, hypogonadotropic hypogonadism (HH) and intellectual disability, who was monitored for over 20 years, allowing a detailed genotype-phenotype correlation along time. Whole exome sequencing on the patient and her relatives identified a de novo SOX2 c...
January 22, 2018: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29330225/genetics-in-endocrinology-genetic-counseling-for-congenital-hypogonadotropic-hypogonadism-and-kallmann-syndrome-new-challenges-in-the-era-of-oligogenism-and-next-generation-sequencing
#15
Luigi Maione, Andrew A Dwyer, Bruno Francou, Anne Guiochon-Mantel, Nadine Binart, Jerome Bouligand, Jacques Young
Congenital hypogonadotropic hypogonadism (CHH) and Kallmann syndrome (KS) are rare, related diseases that prevent normal pubertal development and cause infertility in affected men and women. However, the infertility carries a good prognosis as increasing numbers of patients with CHH/KS are now able to have children through medically assisted procreation. These are genetic diseases that can be transmitted to patients' offspring. Importantly patients and their families should be informed of this risk and given genetic counseling...
January 12, 2018: European Journal of Endocrinology
https://www.readbyqxmd.com/read/29323692/delayed-puberty
#16
Alyssa M Dye, Grace B Nelson, Alicia Diaz-Thomas
Delayed puberty is defined as the absence of physical signs of puberty 2 to 2.5 standard deviations above the mean age and affects approximately 2% of adolescents. Causes of delayed puberty are broadly divided into two categories: hypergonadotropic hypogonadism and hypogonadotropic hypogonadism. One exception to this classification system is constitutional delay of growth and puberty, the most common cause of delayed puberty. For the general pediatrician, knowledge of the different causes and initial steps to evaluation is crucial when a patient with delayed puberty presents...
January 1, 2018: Pediatric Annals
https://www.readbyqxmd.com/read/29289389/tubb3-e410k-syndrome-with-osteoporosis-and-cough-syncope-in-a-patient-previously-diagnosed-with-atypical-moebius-syndrome
#17
Yasuko Nakamura, Hiroshi Matsumoto, Kiyotaka Zaha, Kenji Uematsu, Shigeaki Nonoyama
BACKGROUND: A heterozygous c.1228G > A p.E410K mutation in TUBB3 encoding neuronal-specific β-tubulin isotype 3 causes TUBB3 E410K syndrome, which exhibits a wide range of neurological and endocrinological abnormalities. CASE DESCRIPTION: The patient is a 31-year-old Japanese woman who was diagnosed with atypical Moebius syndrome because of congenital facial weakness and extraocular ophthalmoplegia sparing abduction. She suffered a femoral neck fracture at 23 years of age, and radiological and endocrinological studies revealed osteoporosis because of hypogonadotropic hypogonadism...
December 27, 2017: Brain & Development
https://www.readbyqxmd.com/read/29280744/update-on-the-genetics-of-idiopathic-hypogonadotropic-hypogonadism
#18
A Kemal Topaloğlu
Traditionally, idiopathic hypogonadotropic hypogonadism (IHH) is divided into two major categories: Kallmann syndrome (KS) and normosmic IHH (nIHH). To date, inactivating variants in more than 50 genes have been reported to cause IHH. These mutations are estimated to account for up to 50% of all apparently hereditary cases. Identification of further causative gene mutations is expected to be more feasible with the increasing use of whole exome/genome sequencing. Presence of more than one IHH-associated mutant gene in a given patient/pedigree (oligogenic inheritance) is seen in 10-20% of all IHH cases...
December 27, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/29264451/conformational-change-in-the-ligand-binding-pocket-via-a-kiss1r-mutation-p147l-leads-to-isolated-gonadotropin-releasing-hormone-deficiency
#19
Koichiro Shimizu, Tadato Yonekawa, Morikatsu Yoshida, Mikiya Miyazato, Ayako Miura, Hideyuki Sakoda, Hideki Yamaguchi, Masamitsu Nakazato
Context: Kisspeptin receptor (KISS1R) is expressed in hypothalamic gonadotropin-releasing hormone neurons and responsible for pubertal onset and reproductive functions. KISS1R mutations remain a rare cause of congenital hypogonadotropic hypogonadism (CHH). Objective: The aim of this study was to identify the genetic cause of CHH in a patient and to functionally characterize a KISS1R mutation. Design: The patient was a 47-year-old Japanese man whose parents were first cousins...
October 1, 2017: Journal of the Endocrine Society
https://www.readbyqxmd.com/read/29263200/wdr11-mediated-hedgehog-signalling-defects-underlie-a-new-ciliopathy-related-to-kallmann-syndrome
#20
Yeon-Joo Kim, Daniel Ps Osborn, Ji-Young Lee, Masatake Araki, Kimi Araki, Timothy Mohun, Johanna Känsäkoski, Nina Brandstack, Hyun-Taek Kim, Francesc Miralles, Cheol-Hee Kim, Nigel A Brown, Hyung-Goo Kim, Juan Pedro Martinez-Barbera, Paris Ataliotis, Taneli Raivio, Lawrence C Layman, Soo-Hyun Kim
WDR11 has been implicated in congenital hypogonadotropic hypogonadism (CHH) and Kallmann syndrome (KS), human developmental genetic disorders defined by delayed puberty and infertility. However, WDR11's role in development is poorly understood. Here, we report that WDR11 modulates the Hedgehog (Hh) signalling pathway and is essential for ciliogenesis. Disruption of WDR11 expression in mouse and zebrafish results in phenotypic characteristics associated with defective Hh signalling, accompanied by dysgenesis of ciliated tissues...
December 20, 2017: EMBO Reports
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