keyword
MENU ▼
Read by QxMD icon Read
search

Hypogonadotropic hypogonadism

keyword
https://www.readbyqxmd.com/read/29895017/transition-in-pediatric-and-adolescent-hypogonadal-girls-gynecological-aspects-estrogen-replacement-therapy-and-contraception
#1
Anette Tønnes Pedersen, Line Cleemann, Katharina M Main, Anders Juul
Hypogonadism may be suspected if puberty is delayed. Pubertal delay may be caused by a normal physiological variant, by primary ovarian insufficiency (Turner syndrome), or reflect congenital hypogonadotropic hypogonadism (HH; genetic) or acquired HH (brain lesions). Any underlying chronic disease like inflammatory bowel disease, celiac disease, malnutrition (anorexia or orthorexia), or excessive physical activity may also result in functional HH. Thus, girls with delayed puberty should be evaluated for an underlying pathology before any treatment, including oral contraception, is initiated...
2018: Endocrine Development
https://www.readbyqxmd.com/read/29891229/-monitoring-of-the-treatment-of-hypogonadotropic-hypogonadism-in-the-infant
#2
María Álvarez Casaño, Juan Pedro López Siguero
No abstract text is available yet for this article.
June 8, 2018: Anales de Pediatría: Publicación Oficial de la Asociación Española de Pediatría (A.E.P.)
https://www.readbyqxmd.com/read/29887929/mri-of-ectopic-posterior-pituitary-gland-with-dysgenesis-of-pituitary-stalk-in-a-patient-with-hypogonadotropic-hypogonadism
#3
Ashim Kumar Lahiri, Ramanivas Sundareyan, David Jenkins, Anjumara Nilak
The ectopic posterior pituitary is a rare condition which is characterized by the ectopic location of posterior lobe of pituitary, pituitary stalk abnormalities, and associated clinical manifestations of anterior lobe related growth hormone dysfunction or less commonly multiple anterior pituitary dysfunctions. We present a rare case of posterior ectopic pituitary and pituitary stalk hypoplasia with isolated hypogonadotropic hypogonadism in a 36-year-old female patient.
August 2018: Radiology case reports
https://www.readbyqxmd.com/read/29886652/-diagnosis-and-management-of-adult-onset-idiopathic-hypogonadotropic-hypogonadism
#4
J F Mao, X Wang, B Q Yu, Y J Gao, M Nie, X Y Wu
Objective: To investigate the clinical features and management of male patients with adult-onset idiopathic hypogonadotropic hypogonadism (AIHH). Methods: Clinical features and treatment of six patients with AIHH between January 2010 and June 2017 were retrospectively reviewed. Results: The patients were all male, with an age of 26 (20-35) years old and they experienced complete pubertal development. The main complaints were decreased libido, erectile dysfunction and gynecomastia. Physical examination found that the testicular size was 15 (12-20) ml and they were fully virilized...
May 29, 2018: Zhonghua Yi Xue za Zhi [Chinese medical journal]
https://www.readbyqxmd.com/read/29886503/transition-of-care-from-childhood-to-adulthood-congenital-hypogonadotropic-hypogonadism
#5
Andrew A Dwyer, Nelly Pitteloud
Passage from childhood to adult life involves biological changes culminating in full reproductive capacity as well as psychosocial development. For patients with congenital hypogonadotropic hypogonadism (CHH), this can be an emotionally challenging time as their pubertal failure results in striking physical differences from their peers. CHH is difficult to differentiate from common disorders of puberty such as constitutional delay of growth and puberty. As such, delays in diagnosis are frequent, and it is a common source of stress and frustration for these adolescents...
2018: Endocrine Development
https://www.readbyqxmd.com/read/29858708/iron-and-a-man-s-reproductive-health-the-good-the-bad-and-the-ugly
#6
REVIEW
J Scott Gabrielsen, Dolores J Lamb, Larry I Lipshultz
PURPOSE OF REVIEW: To discuss the physiologic and pathologic effects of iron on men's reproductive health. RECENT FINDINGS: Iron overload diseases are associated with hypogonadotropic hypogonadism, infertility, and sexual dysfunction in men. Recent findings have elucidated the roles by which iron may affect the male reproductive axis. Iron is requisite for life. Iron can also catalyze the production of reactive oxygen species. To maintain balance, the human body tightly regulates dietary iron absorption...
June 1, 2018: Current Urology Reports
https://www.readbyqxmd.com/read/29799410/the-frequencies-of-y-chromosome-microdeletions-in-infertile-males
#7
Emre Can Akınsal, Numan Baydilli, Munis Dündar, Oğuz Ekmekçioğlu
OBJECTIVE: To determine the frequencies and the characteristics of Y chromosome microdeletions in infertile males. MATERIAL AND METHODS: The records of 1616 infertile males were included in the study. The cases were divided into groups according to the infertility etiology and semen analysis. The frequencies and the characteristics of Y chromosome microdeletions were investigated in groups. RESULTS: Y chromosome microdeletion was detected in 54 (3...
November 8, 2017: Turkish Journal of Urology
https://www.readbyqxmd.com/read/29777911/deficiency-in-gnrh-receptor-trafficking-due-to-a-novel-homozygous-mutation-causes-idiopathic-hypogonadotropic-hypogonadism-in-three-prepubertal-siblings
#8
Rui Zhang, Siyuan Linpeng, Zhuo Li, Yingxi Cao, Hu Tan, Desheng Liang, Lingqian Wu
Idiopathic hypogonadotropic hypogonadism (IHH) is characterized by low levels of gonadotropins and delayed or absent sexual development. Most of the patients are diagnosed in late adolescence or early adulthood. Determining the diagnosis of IHH in prepubertal patients can be challenging. Making a timely, correct diagnosis has important clinical implications. Here we aimed to identify the genetic cause of IHH in three prepubertal siblings from a Chinese Han family and give appropriate treatment advice. Using whole exome sequencing (WES), we identified a novel homozygous GNRHR mutation (NM_000406; c...
May 16, 2018: Gene
https://www.readbyqxmd.com/read/29749493/a-novel-pnpla6-compound-heterozygous-mutation-identified-in-a-chinese-patient-with-boucher%C3%A2-neuh%C3%A3-user-syndrome
#9
Ruizhi Zheng, Yaguang Zhao, Jiayu Wu, Yuanmei Wang, Jian-Ling Liu, Zhi-Ling Zhou, Xiao-Tao Zhou, Dan-Na Chen, Wei-Hua Liao, Jia-Da Li
The combination of cerebellar degeneration, hypogonadotropic hypogonadism and chorioretinal dystrophy defines Boucher‑Neuhäuser syndrome (BNS), which has been associated with autosomal‑recessive mutations in the patatin‑like phospholipase domain containing 6 (PNPLA6) gene. However, no BNS cases have been reported in mainland China. In the present study, to the best of the authors' knowledge, the first patient with BNS was identified in China. A 39‑year‑old male was first diagnosed with hypogonadotropic hypogonadism...
May 3, 2018: Molecular Medicine Reports
https://www.readbyqxmd.com/read/29726667/-kallmann-syndrome-with-deafness-caused-by-sox10-mutation-advances-in-research
#10
REVIEW
Xi Zhou, Wei-Wei Li, Qiu-Yue Wu, Mao-Mao Yu, Xin-Yi Xia
The transcription factor SOX10, as a major actor in the development of the neural crest, plays a key role in the maintenance of progenitor cell multipotency, lineage specification, and cell differentiation. Abnormalities of neural crest development in humans lead to a number of genetic diseases known as neurocristopathies or neural crest disorders. The mutation of SOX10 can cause Kallmann syndrome (KS), which is a clinically and genetically heterogeneous condition and defined by the association between anosmia and hypogonadotropic hypogonadism due to incomplete migration of neuroendocrine gonadotropin-releasing hormone (GnRH) cells along the olfactory, vomeronasal, and terminal nerves...
September 2017: Zhonghua Nan Ke Xue, National Journal of Andrology
https://www.readbyqxmd.com/read/29692900/a-case-of-kallmann-syndrome-associated-with-a-non-functional-pituitary-microadenoma
#11
Taieb Ach, Hela Marmouch, Dorra Elguiche, Asma Achour, Hajer Marzouk, Hanene Sayadi, Ines Khochtali, Mondher Golli
Kallmann syndrome (KS) is a form of hypogonadotropic hypogonadism in combination with a defect in sense of smell, due to abnormal migration of gonadotropin-releasing hormone-producing neurons. We report a case of a 17-year-old Tunisian male who presented with eunuchoid body proportions, absence of facial, axillary and pubic hair, micropenis and surgically corrected cryptorchidism. Associated findings included anosmia. Karyotype was 46XY and hormonal measurement hypogonadotropic hypogonadism. MRI of the brain showed bilateral agenesis of the olfactory bulbs and 3...
2018: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/29678855/de-novo-sox10-nonsense-mutation-in-a-patient-with-kallmann-syndrome-deafness-iris-hypopigmentation-and-hyperthyroidism
#12
Fang Wang, Shaoli Zhao, Yanhong Xie, Wenjun Yang, Zhaohui Mo
Kallmann syndrome (KS) is a clinically and genetically heterogeneous disorder characterized by hypogonadotropic hypogonadism and olfactory dysfunction. Recently, mutations in SOX10, a well-known causative gene of Waardenburg syndrome (WS), have been identified in a few KS patients with additional developmental defects including hearing loss. However, the understanding of SOX10 mutation associates with KS and other clinical consequences remains fragmentary. A 30-year-old Chinese male patient presented with no pubertal sex development when he was at the age of twelve years...
March 2018: Annals of Clinical and Laboratory Science
https://www.readbyqxmd.com/read/29678280/the-kisspeptin-receptor-a-key-g-protein-coupled-receptor-in-the-control-of-the-reproductive-axis
#13
REVIEW
Delphine Franssen, Manuel Tena-Sempere
The kisspeptin receptor, Kiss1R, also known as Gpr54, is a G protein-coupled receptor (GPCR), deorphanized in 2001, when it was recognized as canonical receptor for the Kiss1-derived peptides, kisspeptins. In 2003, inactivating mutations of Kiss1R gene were first associated to lack of pubertal maturation and hypogonadotropic hypogonadism in humans and rodents. These seminal findings pointed out the previously unsuspected, essential role of Kiss1R and its ligands in control of reproductive maturation and function...
April 2018: Best Practice & Research. Clinical Endocrinology & Metabolism
https://www.readbyqxmd.com/read/29669934/divergent-responses-to-kisspeptin-in-children-with-delayed-puberty
#14
Yee-Ming Chan, Margaret F Lippincott, Temitope O Kusa, Stephanie B Seminara
BACKGROUND: The neuropeptide kisspeptin stimulates luteinizing hormone (LH) secretion in healthy adults but not in adults with idiopathic hypogonadotropic hypogonadism. We hypothesized that, in children presenting with delayed or stalled puberty, kisspeptin would elicit LH secretion in those children found on detailed nighttime neuroendocrine profiling to have evidence of emerging reproductive endocrine function. METHODS: Eleven boys and four girls were admitted overnight to assess LH secretion at baseline, after a single intravenous bolus of kisspeptin, and after a single intravenous bolus of gonadotropin-releasing hormone (GnRH)...
April 19, 2018: JCI Insight
https://www.readbyqxmd.com/read/29664655/short-term-assessment-of-hsct-effects-on-the-hypothalamus-pituitary-axis-in-pediatric-thalassemic-patients
#15
Amir Ali Hamidieh, Fariba Mohseni, Maryam Behfar, Zohreh Hamidi, Kamran Alimoghaddam, Mohamad Pajouhi, Bagher Larijani, Mohammad-Reza Mohajeri-Tehrani, Ardeshir Ghavamzadeh
BACKGROUND: Beta thalassemia major (BTM) and its treatment by hematopoietic stem cell transplantation (HSCT) may have deleterious effects on the endocrine systems. We assessed endocrine complications of HSCT in pediatric patients for 3 months. METHODS: In 20 (6 female) pediatric major thalassemic patients (mean age of 10.8 ± 3.9 years old), prolactin, luteinizing hormone (LH), follicle-stimulating hormone (FSH), T4, T3, thyroid-stimulating hormone (TSH), IGF-1, testosterone (in males) or estradiol (in females) were measured as a batch at the Endocrinology and Metabolism Research Center (EMRC) of Tehran University of Medical Sciences (TUMS) laboratories before HSCT and 1 and 3 months afterwards...
February 1, 2018: Archives of Iranian Medicine
https://www.readbyqxmd.com/read/29660734/interpretation-of-serum-gonadotropin-levels-in-hyperprolactinemia
#16
Ali Abbara, Sophie A Clarke, Alexander Nesbitt, Sabreen Ali, Alexander N Comninos, Emma Hatfield, Niamh Martin, Amir Sam, Karim Meeran, Waljit S Dhillo
<br>Background/Aims: Hyperprolactinemia is a common cause of amenorrhea due to hypogonadotropic hypogonadism. Prolactin is hypothesized to impede the reproductive axis through an inhibitory action at the hypothalamus. However, limited data exists to aid the interpretation of serum gonadotropins in the context of hyperprolactinemia. METHODS: Serum gonadotropin values were reviewed in 243 patients with elevated serum monomeric prolactin due to discrete etiologies at a tertiary reproductive endocrine centre between 2012 and 2015...
April 16, 2018: Neuroendocrinology
https://www.readbyqxmd.com/read/29658329/identification-of-a-novel-mutation-in-fgfr1-gene-in-patients-with-kallmann-syndrome-by-high-throughput-sequencing
#17
Bao-Fang Jin, Zhi-Yong Ji, Zhi-Ying Su, Li-Bin Mei, Xian-Jing Huang, Shao-Bin Lin, Ping Li, Yan-Wei Sha
Kallmann syndrome (KS) is a rare clinical and genetic heterogeneity disease, which is familial or sporadic. KS is known to have three patterns of inheritance: X linked recessive inheritance, autosomal dominant inheritance and rare autosomal recessive inheritance. Here, we report a sibling pedigree with autosomal dominant inheritance of KS, and we identified a novel heterozygous frameshift mutation c.299_300insCCGCAGACTCCGGCCTCTATGC (p.C101Rfs*17) in FGFR1 gene using whole-exome sequencing (WES). The mutation and affection status were cosegregated...
June 2018: Systems Biology in Reproductive Medicine
https://www.readbyqxmd.com/read/29623208/a-rare-challenging-case-of-co-existent-craniopharyngioma-acromegaly-and-squamous-cell-lung-cancer
#18
Athanasios Fountas, Shu Teng Chai, John Ayuk, Neil Gittoes, Swarupsinh Chavda, Niki Karavitaki
Co-existence of craniopharyngioma and acromegaly has been very rarely reported. A 65-year-old man presented with visual deterioration, fatigue and frontal headaches. Magnetic resonance imaging revealed a suprasellar heterogeneous, mainly cystic, 1.9 × 2 × 1.9 cm mass compressing the optic chiasm and expanding to the third ventricle; the findings were consistent with a craniopharyngioma. Pituitary hormone profile showed hypogonadotropic hypogonadism, mildly elevated prolactin, increased insulin-like growth factor 1 (IGF-1) and normal thyroid function and cortisol reserve...
2018: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/29618326/a-novel-homozygous-mutation-in-polr3a-gene-causing-4h-syndrome-a-case-report
#19
Vishal V Tewari, Ritu Mehta, C M Sreedhar, Kunal Tewari, Akbar Mohammad, Neerja Gupta, Sheffali Gulati, Madhulika Kabra
BACKGROUND: 4H syndrome is a congenital hypomyelinating leukodystrophy characterized by hypodontia, hypomyelination and hypogonadotropic hypogonadism belonging to the Pol III-related leukodystrophies which arise due to mutations in the POLR3A or POLR3B gene. The clinical presentation is of neurodevelopmental delay or regression with ataxia, dystonia, nystagmus, delayed deciduous dentition and abnormal order of eruption of teeth. MRI brain shows a characteristic hypomyelination pattern...
April 4, 2018: BMC Pediatrics
https://www.readbyqxmd.com/read/29568783/kratom-an-emerging-drug-of-abuse-raises-prolactin-and-causes-secondary-hypogonadism-case-report
#20
Lauren LaBryer, Rohan Sharma, Kaustubh Suresh Chaudhari, Mitali Talsania, Robert Hal Scofield
Background. Kratom is a drug derived from the leaves of the tree Mitragyna speciose , which is native to southern Thailand. The route of administration is oral. Kratom has become increasingly available in the United States. The active ingredients in the drug bind the opioid mu-receptor; therefore, kratom has similar physiological effects as mu-opioids. Elevated prolactin is a common medical condition frequently caused by a variety drugs, including opioids. Case Report. A 42-year-old man presented with poor energy and low libido...
January 2018: Journal of Investigative Medicine High Impact Case Reports
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"