keyword
https://read.qxmd.com/read/38243380/x-linked-congenital-adrenal-hypoplasia-report-of-long-clinical-follow-up-and-description-of-a-new-complex-variant-in-the-nr0b1-gene
#21
Adriana Mangue Esquiaveto-Aun, Maricilda Palandi de Mello, Mara Sanches Guaragna, Vera Lúcia Gil da Silva Lopes, Ana Paula Francese-Santos, Cristiane Dos Santos Cruz Piveta, Taís Nitsh Mazolla, Sofia Helena Valente de Lemos-Marini, Gil Guerra-Junior
Adrenal hypoplasia congenita, attributed to NR0B1 pathogenic variants, accounts for more than 50% of the incidence of primary adrenal insufficiency in children. Although more than 250 different deleterious variations have been described, no genotype-phenotype correlation has been defined to date. We report a case of an adopted boy who reported the onset of an adrenal crisis at 2 weeks of age, requiring replacement therapy with mineralocorticoids and glucocorticoids for 4 months. For 3 years, he did well without treatment...
January 19, 2024: American Journal of Medical Genetics. Part A
https://read.qxmd.com/read/38227553/clinical-manifestations-and-spermatogenesis-outcomes-in-chinese-patients-with-congenital-hypogonadotropic-hypogonadism-caused-by-inherited-or-de-novo-fgfr1-mutations
#22
JOURNAL ARTICLE
Yu-Fan Yang, Hai-Lu Ma, Xi Wang, Min Nie, Jiang-Feng Mao, Xue-Yan Wu
Fibroblast growth factor receptor 1 (FGFR1) mutations are associated with congenital hypogonadotropic hypogonadism (CHH) through inheritance or spontaneous occurrence. We detected FGFR1 mutations in a Chinese cohort of 210 CHH patients at Peking Union Medical College Hospital (Beijing, China) using next-generation and Sanger sequencing. We assessed missense variant pathogenicity using six bioinformatics tools and compared clinical features and treatment outcomes between inherited and de novo mutation groups...
January 9, 2024: Asian Journal of Andrology
https://read.qxmd.com/read/38196663/high-population-frequency-of-gnrhr-p-q106r-in-malta-an-evaluation-of-fertility-and-hormone-profiles-in-heterozygotes
#23
JOURNAL ARTICLE
Clayton John Axiak, Adrian Pleven, Ritienne Attard, Francesca Borg Carbott, Jean-Paul Ebejer, Ian Brincat, Karen Cassar, Mark Gruppetta, Josanne Vassallo, Stephanie Bezzina Wettinger, Rosienne Farrugia
CONTEXT: The gonadotropin-releasing hormone receptor variant GNRHR p.Q106R (rs104893836) in homozygosity, compound heterozygosity, or single heterozygosity is often reported as the causative variant in idiopathic hypogonadotropic hypogonadism (IHH) patients with GnRH deficiency. Genotyping of a Maltese newborn cord-blood collection yielded a minor allele frequency (MAF) 10 times higher (MAF = 0.029; n = 493) than that of the global population (MAF = 0.003). OBJECTIVE: To determine whether GNRHR p...
January 5, 2024: Journal of the Endocrine Society
https://read.qxmd.com/read/38178979/a-high-fat-eucaloric-diet-induces-reprometabolic-syndrome-of-obesity-in-normal-weight-women
#24
JOURNAL ARTICLE
Nanette Santoro, Katherine Kuhn, Shannon Pretzel, Irene E Schauer, Angela Fought, Angelo D'Alessandro, Daniel Stephenson, Andrew P Bradford
We examined the effects of 1 month of a eucaloric, high-fat (48% of calories) diet (HFD) on gonadotropin secretion in normal-weight women to interrogate the role of free fatty acids and insulin in mediating the relative hypogonadotropic hypogonadism of obesity. Eighteen eumenorrheic women (body mass index [BMI] 18-25 kg/m2 ) were studied in the early follicular phase of the menstrual cycle before and after exposure to an HFD with frequent blood sampling for luteinizing hormone (LH) and follicle-stimulating hormone (FSH), followed by an assessment of pituitary sensitivity to gonadotropin-releasing hormone (GnRH)...
January 2024: PNAS Nexus
https://read.qxmd.com/read/38166219/advocating-hormonal-treatment-to-prevent-adult-in-fertility-in-patients-diagnosed-with-congenital-un-descended-testes
#25
REVIEW
Faruk Hadziselimovic
In 2007 the Nordic group came to the following unanimous conclusions: In general, hormonal treatment is not recommended, considering the poor immediate results and the possible long-term adverse effects on spermatogenesis. Thus, surgery is to be preferred. However, defective mini puberty inducing insufficient gonadotropin secretion is one of the most common causes of nonobstructive azoospermia in men suffering from congenital isolated unilateral or bilateral cryptorchidism. The extent of alteration in the unilateral undescended testis correlate with the contralateral descended testis, indicating that unilateral cryptorchidism is a bilateral disease...
2024: International Braz J Urol: Official Journal of the Brazilian Society of Urology
https://read.qxmd.com/read/38148819/digenic-chd7-and-smchd1-inheritance-unveils-phenotypic-variability-in-a-family-mainly-presenting-with-hypogonadotropic-hypogonadism
#26
JOURNAL ARTICLE
Tian Wang, Wu Ren, Fangfang Fu, Hairong Wang, Yan Li, Jie Duan
OBJECTIVES: CHARGE syndrome is a congenital hereditary condition involving multiple systems. Patients are easily misdiagnosed with idiopathic hypogonadotropic hypogonadism (IHH) due to the overlap of clinical manifestations. An accurate clinical diagnosis remains challenging when the predominant clinical manifestation resembles hypogonadotropic hypogonadism. METHODS: This original research is conducted based on the genetic finding and analysis of clinical cases...
January 15, 2024: Heliyon
https://read.qxmd.com/read/38128110/gonadotropins-for-pubertal-induction-in-males-with-hypogonadotropic-hypogonadism-systematic-review-and-meta-analysis
#27
JOURNAL ARTICLE
Emma C Alexander, Duaa Faruqi, Robert Farquhar, Ayesha Unadkat, Kyla Ng Yin, Rebecca Hoskyns, Rachel Varughese, Sasha R Howard
OBJECTIVE: Hypogonadotropic hypogonadism is characterised by inadequate secretion of pituitary gonadotropins, leading to absent, partial or arrested puberty. In males, classical treatment with testosterone promotes virilisation but not testicular growth or spermatogenesis. To quantify treatment practices and efficacy, we systematically reviewed all studies investigating gonadotropins for achievement of pubertal outcomes in males with hypogonadotropic hypogonadism. DESIGN: Systematic review and meta-analysis...
December 21, 2023: European Journal of Endocrinology
https://read.qxmd.com/read/38112850/diagnosing-and-treating-anterior-pituitary-hormone-deficiency-in-pediatric-patients
#28
REVIEW
Rodolfo A Rey, Ignacio Bergadá, María Gabriela Ballerini, Débora Braslavsky, Ana Chiesa, Analía Freire, Romina P Grinspon, Ana Keselman, Andrea Arcari
Hypopituitarism, or the failure to secrete hormones produced by the anterior pituitary (adenohypophysis) and/or to release hormones from the posterior pituitary (neurohypophysis), can be congenital or acquired. When more than one pituitary hormone axis is impaired, the condition is known as combined pituitary hormone deficiency (CPHD). The deficiency may be primarily due to a hypothalamic or to a pituitary disorder, or concomitantly both, and has a negative impact on target organ function. This review focuses on the pathophysiology, diagnosis and management of anterior pituitary hormone deficiency in the pediatric age...
December 19, 2023: Reviews in Endocrine & Metabolic Disorders
https://read.qxmd.com/read/38098601/identification-of-a-valuable-gene-network-for-the-diagnosis-and-treatment-of-non-obstructive-azoospermia-in-silico-analyses-experimental-research
#29
JOURNAL ARTICLE
Mohammad Reza Zabihi, Narges Norouzkhani, Samad Karkhah, Mohammad Akhoondian
INTRODUCTION: Non-obstructive azoospermia (NOA) is an etiology of infertility in men. NOA may have various classifications; however, hypogonadotropic hypogonadism can be regarded as a class of NOA associated with genetic factors. Former studies have shown that noncoding RNA (ncRNA) plays an essential role in NOA incidence, but few studies have been performed on the NOA-related ncRNA interaction network. In the current study, genes, NOA-related microRNA (miRNA), and circular RNA (circRNA) were found by bioinformatics methods to offer a new perspective on NOA treatment...
December 2023: Annals of Medicine and Surgery
https://read.qxmd.com/read/38096238/exome-sequencing-in-16-patients-with-pituitary-stalk-interruption-syndrome-a-monocentric-study
#30
JOURNAL ARTICLE
Raja Brauner, Joelle Bignon-Topalovic, Anu Bashamboo, Ken McElreavey
Pituitary stalk interruption syndrome (PSIS) is a rare disorder characterized by an absent or ectopic posterior pituitary, absent or interrupted pituitary stalk and anterior pituitary hypoplasia on magnetic resonance imaging (MRI), as well in some cases a range of heterogeneous somatic anomalies. The triad can be incomplete. Here, we performed exome sequencing on 16 sporadic patients, aged 0.4 to 13.7 years diagnosed with isolated or complex PSIS. Growth hormone deficiency was isolated in 10 cases, or associated with thyrotropin deficiency in 6 others (isolated (2 cases), associated with adrenocorticotropin deficiency (1 case), gonadotropins deficiency (1 case), or multiple deficiencies (2 cases))...
2023: PloS One
https://read.qxmd.com/read/38095806/fertility-issues-in-hypopituitarism
#31
REVIEW
Julie Chen, Julia J Chang, Esther H Chung, Ruth B Lathi, Lusine Aghajanova, Laurence Katznelson
Women with hypopituitarism have lower fertility rates and worse pregnancy outcomes than women with normal pituitary function. These disparities exist despite the use of assisted reproductive technologies and hormone replacement. In women with hypogonadotropic hypogonadism, administration of exogenous gonadotropins can be used to successfully induce ovulation. Growth hormone replacement in the setting of growth hormone deficiency has been suggested to potentiate reproductive function, but its routine use in hypopituitary women remains unclear and warrants further study...
December 14, 2023: Reviews in Endocrine & Metabolic Disorders
https://read.qxmd.com/read/38077755/epiphysiolysis-in-a-22-year-old-patient-with-congenital-hypogonadotropic-hypogonadism-case-report
#32
JOURNAL ARTICLE
Alexandre Pedro Nicolini, Claudio Takashi Kuga
Epiphysiolysis is a relatively common disease in the adolescent population (9-16 years); however, it is rare in the adult population. It is characterized by non-traumatic proximal femur slipping. When it occurs in this population it is associated with some disease that slows sexual development and physis closure, such as endocrine diseases or brain tumors. The aim of the present study is to report a case of epiphysiolysis in a 22-year-old patient with hypogonadotropic hypogonadism. There are only 63 cases reported in the world literature on epiphysiolysis in the adult population...
December 2023: Revista Brasileira de Ortopedia
https://read.qxmd.com/read/38075942/patient-with-adrenal-insufficiency-due-to-a-de-novo-mutation-in-the-nr0b1-gene
#33
JOURNAL ARTICLE
Daniel Bravo Nieto, Alba S García Fernández, Noelia Díaz Troyano, Marina Giralt Arnaiz, Andrea Arias García, Paula Fernández Álvarez, Ariadna Campos Martorell, Roser Ferrer Costa, María Clemente León
OBJECTIVES: Congenital X-linked adrenal hypoplasia is a rare disease with a known genetic basis characterized by adrenal insufficiency, hypogonadotropic hypogonadism, and a wide variety of clinical manifestations. CASE PRESENTATION: We present the case of a 26-day old male newborn with symptoms consistent with adrenal insufficiency, hyponatremia, and hyperkalemia. Following NaCl and fludrocortisone supplementation, the patient remained clinically stable. 17-OH-progesterone testing excluded congenital adrenal hyperplasia...
June 2023: Adv Lab Med
https://read.qxmd.com/read/38063330/spermatogonial-depletion-and-a-spermatogenesis-defect-in-the-dp-16-1yey-mouse-model-of-down-syndrome
#34
JOURNAL ARTICLE
Rodolphe Dard, Anastasia Tutunaru, Malek Bouassida, Aissatu Balde Camara, Estelle Parizot, Nadim Kassis, Joanne Fortemps, Céline Cierniewski, Chrystèle Racine, Nathalie di Clemente, Francois Vialard, Nathalie Janel
Down syndrome (DS), or Trisomy 21, is the most common chromosomal disorder in humans. Men with DS are infertile. The DYRK1A gene on Hsa21 is involved in several features of DS. Overexpression of the homolog dyrk1A disrupts primordial germ cell migration in zebrafish, and overexpression of Dyrk1A impairs gonadotropic axis function and the early stages of spermatogenesis in the mouse. Other genes on Hsa21 might be involved in the pathogenesis of infertility in DS. We investigated the Dp(16)1Yey mouse model of DS, which features segmental duplication of chromosome Mmu16 (orthologous to a large part of Hsa21 and carrying Dyrk1A and 112 other genes)...
December 1, 2023: Reproduction
https://read.qxmd.com/read/38050071/clinical-and-genetic-spectrum-of-rnf216-related-disorder-a-new-case-and-literature-review
#35
JOURNAL ARTICLE
Chujun Wu, Zaiqiang Zhang
BACKGROUND: Cases of RNF216 -related disorder have been reported sporadically. However, the clinical and genetic spectrum of this disorder has not been fully studied. METHODS: We identified an individual with a novel causative RNF216 variant in our institution and reviewed all individuals with causative RNF216 variants in previous reports. The clinical and genetic features of all the described individuals were analysed and summarised. RESULTS: Twenty-four individuals from 17 families with causative RNF216 variants were identified...
November 27, 2023: Journal of Medical Genetics
https://read.qxmd.com/read/38006605/hypothalamic-pituitary-dysfunction-in-sturge-weber-syndrome-case-report-and-review-of-the-literature
#36
JOURNAL ARTICLE
Somar A Hadid, Laila Noor, Tamar Baer, Ronald I Jacobson, Erika Brutsaert
OBJECTIVES: Sturge-Weber syndrome (SWS) is a rare neurocutaneous disorder that is characterized by a segmental dermatomal facial port-wine stain birthmark and is frequently accompanied by ipsilateral brain and eye abnormalities. We present a case of a patient with SWS who exhibited hypogonadotropic hypogonadism, growth hormone (GH) deficiency, and central hypothyroidism at the age of 20 despite the absence of radiographic findings in the pituitary and hypothalamus...
November 27, 2023: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://read.qxmd.com/read/37997801/outcomes-and-experiences-of-adults-with-congenital-hypogonadism-can-inform-improvements-in-the-management-of-delayed-puberty
#37
REVIEW
Sasha R Howard, Richard Quinton
Patients with congenital hypogonadism will encounter many health care professionals during their lives managing their health needs; from antenatal and infantile periods, through childhood and adolescence, into adult life and then old age. The pubertal transition from childhood to adult life raises particular challenges for diagnosis, therapy and psychological support, and patients encounter many pitfalls. Many patients with congenital hypogonadism and delayed or absent puberty are only diagnosed and treated after long diagnostic journeys, and their management across different centres and countries is not well standardised...
January 29, 2024: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://read.qxmd.com/read/37988663/investigation-of-the-molecular-genetic-causes-of-non-syndromic-primary-ovarian-%C3%A4-nsufficiency-by-next-generation-sequencing-analysis
#38
JOURNAL ARTICLE
Eren Er, Semih Aşıkovalı, Hatice Özışık, Elif Sağsak, Damla GÖkşen, Hüseyin Onay, Füsun Saygılı, Şükran Darcan, Samim Özen
OBJECTIVE: The aim of this study is to investigate the molecular genetic causes of non-syndromic primary ovarian insufficiency (POI) cases with the gene panel basedon next generation sequencing analysis and to establish the relationship between genotype and phenotype. MATERIALS AND METHODS: Twenty three cases aged 14-40 years followed up with POI were included. Patients with a karyotype of 46, XX, primary or secondary amenorrhea before the age of 40, with elevated FSH (>40 IU/mL) and low AMH levels (<0...
November 17, 2023: Archives of Endocrinology and Metabolism
https://read.qxmd.com/read/37977846/a-novel-mutation-in-rnf216-gene-in-an-indian-case-with-gordon-holmes-syndrome
#39
JOURNAL ARTICLE
Arjun Bal Kallupurakkal, Rajesh Verma, Rajarshi Chakraborty
Early-onset cerebellar ataxia has a broad range of challenging differential diagnoses. Identification of hypogonadism can assist in narrowing down differential diagnosis in the presentation of progressive ataxia. Gordon Holmes syndrome as described by Sir Gordon Holmes in 1908 consists of ataxia with hypogonadism. It is due to mutation in RNF216 and OTUD4 genes which encode for enzymes in the ubiquitin-proteasome system. In this case report, we describe a 30-year-old male presenting with insidious-onset progressive ataxia with hypogonadotropic hypogonadism, cataract, pan-cerebellar atrophy with bilateral cerebral white matter hyperintensities and a positive homozygous mutation for RNF216 making the diagnosis of Gordon Holmes syndrome...
November 17, 2023: BMJ Case Reports
https://read.qxmd.com/read/37974060/case-report-neuropsychological-assessment-in-a-patient-with-4h-leukodystrophy
#40
JOURNAL ARTICLE
Aya Haneda, Jennifer K Hoots, Hannah A Hagy, Maureen Lacy
Objective: POLR3-HLD or 4H leukodystrophy is an autosomal recessive disorder characterized by hypomyelination, hypodontia, and hypogonadotropic hypogonadism, and caused by variants in POLR3A , POLR3B , POLR1C , or POLR3K genes. Neurological and non-neurological clinical features and disease severity vary. While previous studies reference variable cognition, this is the first report of 4H detailing a comprehensive neuropsychological assessment. Method: The current study presents a 20-year-old, English-speaking, right-handed, non-Hispanic White female with 12 years of education with genetically confirmed 4H POLR3B -related leukodystrophy without hormonal replacement treatment...
November 16, 2023: Clinical Neuropsychologist
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