keyword
MENU ▼
Read by QxMD icon Read
search

Hypogonadotropic hypogonadism

keyword
https://www.readbyqxmd.com/read/28101307/review-and-recommendations-on-management-of-adult-female-thalassemia-patients-with-hypogonadism-based-on-literature-review-and-experience-of-icet-a-network-specialists
#1
REVIEW
Vincenzo De Sanctis, Ashraf T Soliman, Heba Elsedfy, Alice Albu, Soad Al Jaouni, Salvatore Anastasi, Maria Grazia Bisconte, Duran Canatan, Soteroula Christou, Shahina Daar, Salvatore Di Maio, Mohamed El Kholy, Doaa Khater, Mohamed Elshinawy, Yurdanur Kilinc, Roberto Mattei, Hala H Mosli, Alessandra Quota, Maria Grazia Roberti, Praveen Sobti, Saif Al Yaarubi, Saveria Canpisi, Christos Kattamis
BACKGROUND: Multi-transfused thalassemia major (TM) patients frequently develop severe endocrine complications, mainly due to iron overload, anemia, and chronic liver disease, which require prompt diagnosis, treatment and follow-up by specialists. The most common endocrine complication documented is hypogonadotropic hypogonadism which increases with age and associated comorbidities. It is thus important for physicians to have a clear understanding of the pathophysiology and management of this disorder...
2017: Mediterranean Journal of Hematology and Infectious Diseases
https://www.readbyqxmd.com/read/28099131/turner-syndrome-and-pituitary-adenomas-a-case-report-and-review-of-literature
#2
Tiffany Yeh, Angela Ganan Soto, Jose Bernardo Quintos, Lisa Swartz Topor
BACKGROUND: Turner syndrome (TS) is the most common sex chromosome abnormality in females, typically associated with primary amenorrhea and premature ovarian failure due to gonadal dysgenesis. The association of TS with hypopituitarism is an uncommon finding. The objective of the study was to describe an adolescent with TS with hypergonadotropic hypogonadism and subsequent hypogonadotropic hypogonadism. CASE PRESENTATION: A 16-year-old female with primary amenorrhea was diagnosed with TS based on karyotype 45,XO...
January 18, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28087897/fgfr1-analyses-in-four-patients-with-hypogonadotropic-hypogonadism-with-split-hand-foot-malformation-implications-for-the-promoter-region
#3
Kohnosuke Ohtaka, Yasuko Fujisawa, Fumio Takada, Yukihiro Hasegawa, Tatsuya Miyoshi, Tomonobu Hasegawa, Hideaki Miyoshi, Hiraku Kameda, Misuzu Kurokawa Seo, Maki Fukami, Tsutomu Ogata
Heterozygous loss-of-function mutations of FGFR1 cause various disorders including hypogonadotropic hypogonadism with split-hand/foot malformation (HH-SHFM). We examined FGFR1 in four Japanese patients with HH-SHFM (cases 1-4) and the mother of case 4 with HH only. Cases 1 and 2 had heterozygous loss-of-function mutations with no dominant negative effect [c.289G>A, p.(G97S); and c.2231G>C, p.(R744T)], and case 3 had a splice donor site mutation [c.1663+1G>T]. Notably, case 4 had a maternally inherited 8,312 bp microdeletion that involved non-coding exon 1U and impaired FGFR1 expression...
January 13, 2017: Human Mutation
https://www.readbyqxmd.com/read/28081535/efficacy-and-safety-of-continuous-subcutaneous-infusion-of-recombinant-human-gonadotropins-for-congenital-micropenis-during-early-infancy%C3%A2
#4
Athanasia Stoupa, Dinane Samara-Boustani, Isabelle Flechtner, Graziella Pinto, Isabelle Jourdon, Laura González-Briceño, Maud Bidet, Kathleen Laborde, Didier Chevenne, Anne-Elodie Millischer, Henri Lottmann, Thomas Blanc, Yves Aigrain, Michel Polak, Jacques Beltrand
BACKGROUND: Early postnatal administration of gonadotropins to infants with congenital hypogonadotropic hypogonadism (CHH) can mimic minipuberty, thereby increasing penile growth. We assessed the effects of gonadotropin infusion on stretched penile length (SPL) and hormone levels in infants with congenital micropenis. METHODS: Single-center study including 6 males with micropenis in case of isolated CHH (n = 4), panhypopituitarism (n = 1), and partial androgen insensitivity syndrome (PAIS; n = 1)...
January 12, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/28051040/pulsatile-gonadotropin-releasing-hormone-therapy-is-associated-with-earlier-spermatogenesis-compared-to-combined-gonadotropin-therapy-in-patients-with-congenital-hypogonadotropic-hypogonadism
#5
Jiang-Feng Mao, Zhao-Xiang Liu, Min Nie, Xi Wang, Hong-Li Xu, Bing-Kun Huang, Jun-Jie Zheng, Le Min, Ursula Brigitte Kaiser, Xue-Yan Wu
Both pulsatile gonadotropin-releasing hormone (GnRH) infusion and combined gonadotropin therapy (human chorionic gonadotropin and human menopausal gonadotropin [HCG/HMG]) are effective to induce spermatogenesis in male patients with congenital hypogonadotropic hypogonadism (CHH). However, evidence is lacking as to which treatment strategy is better. This retrospective cohort study included 202 patients with CHH: twenty had received pulsatile GnRH and 182 had received HCG/HMG. Patients had received therapy for at least 12 months...
December 27, 2016: Asian Journal of Andrology
https://www.readbyqxmd.com/read/27982202/a-boy-with-prader-willi-syndrome-unmasking-precocious-puberty-during-growth-hormone-replacement-therapy
#6
Natasha G Ludwig, Rafael F Radaeli, Mariana M X Silva, Camila M Romero, Alexandre J F Carrilho, Danielle Bessa, Delanie B Macedo, Maria L Oliveira, Ana Claudia Latronico, Tânia L Mazzuco
Prader-Willi syndrome (PWS) is a genetic disorder frequently characterized by obesity, growth hormone deficiency, genital abnormalities, and hypogonadotropic hypogonadism. Incomplete or delayed pubertal development as well as premature adrenarche are usually found in PWS, whereas central precocious puberty (CPP) is very rare. This study aimed to report the clinical and biochemical follow-up of a PWS boy with CPP and to discuss the management of pubertal growth. By the age of 6, he had obesity, short stature, and many clinical criteria of PWS diagnosis, which was confirmed by DNA methylation test...
November 2016: Archives of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/27941181/hypogonadotropic-hypogonadism-in-a-female-patient-with-congenital-arhinia
#7
Janel Darcy Hunter, Melissa Ann Davis, Jennifer Rachel Law
The association of anosmia and congenital hypogonadotropic hypogonadism (CHH) is well described; however, congenital arhinia is a malformation associated with CHH that occurs much more rarely. There have been three reports of male patients with hypogonadism and congenital arhinia in the literature to date. We present the first case of arhinia associated with CHH in a female patient. A 14 years and 8 months female with congenital arhinia presented with delayed puberty. Physical examination and laboratory evaluation were consistent with hypogonadotropic hypogonadism...
January 1, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/27927844/congenital-hypogonadotropic-hypogonadism-functional-hypogonadotropism-or-constitutional-delay-of-growth-and-puberty-an-analysis-of-a-large-patient-series-from-a-single-tertiary-center
#8
Tero Varimo, Päivi J Miettinen, Johanna Känsäkoski, Taneli Raivio, Matti Hero
STUDY QUESTION: What diagnoses underlie delayed puberty (DP) and predict its outcome? SUMMARY ANSWER: A multitude of different diagnoses underlie DP, and in boys a history of cryptorchidism, small testicular size and slow growth velocity (GV) predict its clinical course. WHAT IS KNOWN ALREADY: DP is caused by a variety of underlying etiologies. Hormonal markers can be used in the differential diagnosis of DP but none of them have shown complete diagnostic accuracy...
January 2017: Human Reproduction
https://www.readbyqxmd.com/read/27884859/isolated-gnrh-deficiency-genotypic-and-phenotypic-characteristics-of-the-genetically-heterogeneous-greek-population
#9
LETTER
M I Stamou, P Varnavas, M Kentrou, F Adamidou, A Voutetakis, J Jing, L Plummer, V Koika, N A Georgopoulos
No abstract text is available yet for this article.
March 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/27879963/hypogonadism-and-non-alcoholic-fatty-liver-disease
#10
Gesthimani Mintziori, Pavlos Poulakos, Christos Tsametis, Dimitrios G Goulis
Non-alcoholic fatty liver disease (NAFLD) is more common in men than in women. Thus, it has been suggested that sex steroids do have a role in the development of NAFLD. The aim of the current paper is to illustrate the association between NAFLD and hypogonadism, by reviewing data derived from both human and animal studies. The prevalence of NAFLD is high in men with hypogonadism, including those with idiopathic hypogonadotropic hypogonadism (IHH), as well as in women in post- menopause, those under estrogen receptor antagonist treatment or women with Turner syndrome...
November 23, 2016: Minerva Endocrinologica
https://www.readbyqxmd.com/read/27867878/prevalence-of-hypothalamo-pituitary-dysfunction-in-patients-of-traumatic-brain-injury
#11
K V S Hari Kumar, M N Swamy, M A Khan
BACKGROUND: Traumatic brain injury (TBI) is common in young soldiers of armed forces leading to significant morbidity and mortality. We studied the prevalence of hypopituitarism following TBI and its association with trauma severity. MATERIALS AND METHODS: We conducted a 12-month prospective study of 56 TBI patients for the presence of hormonal dysfunction. Hormonal parameters were estimated during the early phase (0-10 days posttraumatically) and after 6 and 12 months...
November 2016: Indian Journal of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/27866050/boucher-neuh%C3%A3-user-syndrome-a-rare-cause-of-inherited-hypogonadotropic-hypogonadism-a-case-of-two-adult-siblings-with-two-novel-mutations-in-pnpla6
#12
Jakob H Langdahl, Anja L Frederiksen, Nina Nguyen, Klaus Brusgaard, Claus B Juhl
Boucher Neuhäuser Syndrome (BNS) is a rare clinical syndrome with autosomal recessive inheritance defined by early-onset ataxia, hypogonadism and chorioretinal dystrophy. We present two siblings diagnosed with BNS in late adult life identified with compound heterozygous state of two novel PNPLA6 mutations. Five healthy siblings were non- or heterozygous carriers of the mutations. The cases, which presented with ataxia in childhood and hypogonadotropic hypogonadism (HH), were diagnosed at age 17 and 25, respectively, when examined for delayed puberty...
November 16, 2016: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/27863011/congenital-anosmia-our-experience-of-eleven-patients-with-aplasia-or-hypoplasia-of-the-olfactory-tract
#13
Jason Powell, Ivan Zammit-Maempel, Sean Carrie
Anosmia is present in approximately 1% of the population and can have a significant impact on quality of life (1) . In contrast to acquired anosmia, congenital anosmia is a relatively rare condition characterized by a complete lack of olfactory perception and the aplasia or hypoplasia of the olfactory bulb. Kallmann syndrome (congenital hypogonadotropic hypogonadism and anosmia) is the best known condition assoicated with congenital anosmia (2,3) . Kallmann Syndrome has a prevalence of around 1 in 8000, and is five times more common in men than women (2,3) ...
November 14, 2016: Clinical Otolaryngology
https://www.readbyqxmd.com/read/27849376/clomiphene-citrate-in-the-treatment-of-idiopathic-or-functional-hypogonadotropic-hypogonadism-in-men-a-case-series-and-review-of-the-literature
#14
Yair Liel
OBJECTIVE: Late onset hypogonadotropic hypogonadism (LOH) is a complex, heterogeneous entity. Whenever treatment is indicated, the endocrine literature has recommend testosterone replacement. We present our experience with clomiphene citrate (CC) treatment in patients with LOH and a review of the literature. DESIGN: A retrospective case series. PATIENTS AND MEASUREMENTS: Eighteen male patients with hypogonadotropic hypogonadism, roughly according to the EMAS criteria for LOH, attended at an academic hospital outpatient clinic...
November 16, 2016: Endocrine Practice
https://www.readbyqxmd.com/read/27811940/the-endocrine-manifestations-of-anorexia-nervosa-mechanisms-and-management
#15
REVIEW
Melanie Schorr, Karen K Miller
Anorexia nervosa is a psychiatric disorder characterized by altered body image, persistent food restriction and low body weight, and is associated with global endocrine dysregulation in both adolescent girls and women. Dysfunction of the hypothalamic-pituitary axis includes hypogonadotropic hypogonadism with relative oestrogen and androgen deficiency, growth hormone resistance, hypercortisolaemia, non-thyroidal illness syndrome, hyponatraemia and hypooxytocinaemia. Serum levels of leptin, an anorexigenic adipokine, are suppressed and levels of ghrelin, an orexigenic gut peptide, are elevated in women with anorexia nervosa; however, levels of peptide YY, an anorexigenic gut peptide, are paradoxically elevated...
November 4, 2016: Nature Reviews. Endocrinology
https://www.readbyqxmd.com/read/27809804/prevalence-of-testosterone-deficiency-in-hiv-infected-men-under-antiretroviral-therapy
#16
Ana Rita Gomes, Pedro Souteiro, Carolina Germana Silva, Bernardo Sousa-Pinto, Francisco Almeida, António Sarmento, Davide Carvalho, Paula Freitas
BACKGROUND: The prevalence of hypogonadism in HIV-infected patients is still a matter of debate as there is no standardized consensual diagnostic method. In addition, the etiology and endocrine/metabolic implications of hypogonadism in this population remain controversial. This study aims to determine the prevalence of testosterone deficiency in a single-site hospital and to evaluate its association with potential risk factors, lipodystrophy, metabolic syndrome, and cardiovascular risk...
November 3, 2016: BMC Infectious Diseases
https://www.readbyqxmd.com/read/27790375/novel-heterozygous-mutation-in-the-extracellular-domain-of-fgfr1-associated-with-hartsfield-syndrome
#17
Masaki Takagi, Tatsuya Miyoshi, Yuka Nagashima, Nao Shibata, Hiroko Yagi, Ryuji Fukuzawa, Tomonobu Hasegawa
Heterozygous kinase domain mutations or homozygous extracellular domain mutations in FGFR1 have been reported to cause Hartsfield syndrome (HS), which is characterized by the triad of holoprosencephaly, ectrodactyly and cleft lip/palate. To date, more than 200 mutations in FGFR1 have been described; however, only 10 HS-associated mutations have been reported thus far. We describe a case of typical HS with hypogonadotropic hypogonadism (HH) harboring a novel heterozygous mutation, p.His253Pro, in the extracellular domain of FGFR1...
2016: Human Genome Variation
https://www.readbyqxmd.com/read/27768007/the-effectiveness-of-zinc-supplementation-in-men-with-isolated-hypogonadotropic-hypogonadism
#18
Yan-Ling Liu, Man-Na Zhang, Guo-Yu Tong, Shou-Yue Sun, Yan-Hua Zhu, Ying Cao, Jie Zhang, Hong Huang, Ben Niu, Hong Li, Qing-Hua Guo, Yan Gao, Da-Long Zhu, Xiao-Ying Li
A multicenter, open-label, randomized, controlled superiority trial with 18 months of follow-up was conducted to investigate whether oral zinc supplementation could further promote spermatogenesis in males with isolated hypogonadotropic hypogonadism (IHH) receiving sequential purified urinary follicular-stimulating hormone/human chorionic gonadotropin (uFSH/hCG) replacement. Sixty-seven Chinese male IHH patients were recruited from the Departments of Endocrinology in eight tertiary hospitals and randomly allocated into the sequential uFSH/hCG group (Group A, n = 34) or the sequential uFSH plus zinc supplementation group (Group B, n = 33)...
October 21, 2016: Asian Journal of Andrology
https://www.readbyqxmd.com/read/27762491/resolution-of-non-alcoholic-steatohepatitis-after-growth-hormone-replacement-in-a-pediatric-liver-transplant-patient-with-panhypopituitarism
#19
Thomas Gilliland, Sylvie Dufour, Gerald I Shulman, Kitt Falk Petersen, Sukru H Emre
NAFLD is a common condition linked to obesity, type 2 diabetes, and metabolic syndrome. Simple hepatic steatosis is a risk factor for inflammatory reactions in the liver (NASH), which may lead to cirrhosis. While the mechanism is unclear, NAFLD and NASH are associated with panhypopituitarism, which in the pediatric population often results from craniopharyngioma or pituitary adenoma and the sequelae of treatment, causing hypothyroidism, adrenal insufficiency, hypogonadotropic hypogonadism, and GH deficiency...
December 2016: Pediatric Transplantation
https://www.readbyqxmd.com/read/27725831/changes-in-testosterone-levels-and-sex-hormone-binding-globulin-levels-in-extremely-obese-men-after-bariatric-surgery
#20
Patchaya Boonchaya-Anant, Nitchakarn Laichuthai, Preaw Suwannasrisuk, Natnicha Houngngam, Suthep Udomsawaengsup, Thiti Snabboon
Objective. Obesity is a risk factor for hypogonadotropic hypogonadism in men. Weight loss has been shown to improve hypogonadism in obese men. This study evaluated the early changes in sex hormones profile after bariatric surgery. Methods. This is a prospective study including 29 morbidly obese men. Main outcomes were changes in serum levels of total testosterone (TT), free testosterone (cFT), SHBG, estradiol, adiponectin, and leptin at 1 and 6 months after surgery. Results. The mean age of patients was 31 ± 8 years and the mean BMI was 56...
2016: International Journal of Endocrinology
keyword
keyword
255
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"