scholarly journals A novel nonsense variant (p.Arg1293Ter) of the immunoglobulin superfamily 1 (IGSF1) associated with congenital hypogonadotropic hypogonadism and central hypothyroidism

2022 ◽  
Author(s):  
Toshihiro Tajima ◽  
Makiko Oguma
Keyword(s):  
Hypogonadotropic Hypogonadism ◽  
Immunoglobulin Superfamily ◽  
Central Hypothyroidism ◽  
Congenital Hypogonadotropic Hypogonadism

Study of CHD7 gene in KAL 1-negative patients previously diagnosed with congenital hypogonadotropic hypogonadism that develop new pituitary deficiencies

2017 ◽  
Author(s):  
Beatriz Lecumberri ◽  
Francisco Javier Rodriguez ◽  
Oscar Moreno ◽  
Manuel de Santiago ◽  
Manuel Nistal ◽  
...  
Keyword(s):  
Hypogonadotropic Hypogonadism ◽  
Congenital Hypogonadotropic Hypogonadism ◽  
Chd7 Gene

scholarly journals NDNF variants are rare in patients with congenital hypogonadotropic hypogonadism

2021 ◽  
Vol 8 (1) ◽  
Author(s):  
Satoshi Tamaoka ◽  
Erina Suzuki ◽  
Atsushi Hattori ◽  
Tsutomu Ogata ◽  
Maki Fukami ◽  
...  
Keyword(s):  
Splice Site ◽  
Genetic Heterogeneity ◽  
Hypogonadotropic Hypogonadism ◽  
Causative Gene ◽  
Synonymous Substitutions ◽  
Congenital Hypogonadotropic Hypogonadism ◽  
Site Recognition

AbstractAlthough NDNF was recently reported as a novel causative gene for congenital hypogonadotropic hypogonadism (CHH), this conclusion has yet to be validated. In this study, we sequenced NDNF in 61 Japanese CHH patients. No variants, except for nine synonymous substitutions that appear to have no effect on splice-site recognition, were identified in NDNF coding exons or flanking intronic sequences. These results indicate the rarity of NDNF variants in CHH patients and highlight the genetic heterogeneity of CHH.

scholarly journals Neuron-Derived Neurotrophic Factor Is Mutated in Congenital Hypogonadotropic Hypogonadism

2020 ◽  
Vol 106 (1) ◽  
pp. 58-70 ◽  
Author(s):  
Andrea Messina ◽  
Kristiina Pulli ◽  
Sara Santini ◽  
James Acierno ◽  
Johanna Känsäkoski ◽  
...  
Keyword(s):  
Neurotrophic Factor ◽  
Hypogonadotropic Hypogonadism ◽  
Congenital Hypogonadotropic Hypogonadism

Compromised Volumetric Bone Density and Microarchitecture in men with Congenital Hypogonadotropic Hypogonadism

2021 ◽  
Author(s):  
Agnès Ostertag ◽  
Georgios E Papadakis ◽  
Corinne Collet ◽  
Severine Trabado ◽  
Luigi Maione ◽  
...  
Keyword(s):  
Bone Markers ◽  
Bone Structure ◽  
Hypogonadotropic Hypogonadism ◽  
Quantitative Computed Tomography ◽  
Hormonal Treatment ◽  
Mineral Density ◽  
Trabecular Microarchitecture ◽  
Trabecular Thickness ◽  
Congenital Hypogonadotropic Hypogonadism

Abstract Context Men with Congenital Hypogonadotropic Hypogonadism (CHH) and Kallmann syndrome (KS) have both low circulating testosterone and estradiol levels. Whether bone structure is affected remains unknown. Objective To characterize bone geometry, volumetric density and microarchitecture in CHH/KS. Design Cross-sectional study. Setting One tertiary academic French center. Patients and Controls 51 genotyped CHH/KS patients and 40 healthy volunteers were included. Ninety-eight percent of CHH/KS men had received testosterone and/or combined gonadotropins. Intervention(s) High-resolution Peripheral Quantitative Computed Tomography (HR-pQCT), Dual X-ray absorptiometry (DXA) and measurement of serum bone markers. Main Outcome Volumetric bone mineral density (vBMD), cortical and trabecular microarchitecture. Results CHH and controls did not differ for age, BMI, vitamin D and PTH levels. Despite long-term hormonal treatment (10.8 ± 6.8 years), DXA showed lower areal BMD in CHH/KS at lumbar spine, total hip, femoral neck and distal radius. Consistent with persistently higher serum bone markers, HR-pQCT revealed lower cortical and trabecular vBMD as well as cortical thickness at the tibia and the radius. CHH/KS men had altered trabecular microarchitecture with a predominant decrease of trabecular thickness. Moreover, CHH/KS men exhibited lower cortical bone area, whereas total and trabecular areas were higher only at the tibia. Earlier treatment onset (before the age of 19 years) conferred a significant advantage for trabecular bone volume/tissue volume and trabecular vBMD at the tibia. Conclusion Both vBMD and bone microarchitecture remain impaired in CHH/KS men despite long-term hormonal treatment. Treatment initiation during adolescence is associated with enhanced trabecular outcomes, highlighting the importance of early diagnosis.

scholarly journals Clinical and genetic features of 64 young male paediatric patients with congenital hypogonadotropic hypogonadism

2017 ◽  
Vol 87 (6) ◽  
pp. 757-766 ◽  
Author(s):  
Yi Wang ◽  
Chunxiu Gong ◽  
Miao Qin ◽  
Ying Liu ◽  
Yuanyuan Tian
Keyword(s):  
Hypogonadotropic Hypogonadism ◽  
Young Male ◽  
Congenital Hypogonadotropic Hypogonadism ◽  
Paediatric Patients ◽  
Genetic Features

Neonatal gonadotropin therapy in male congenital hypogonadotropic hypogonadism

2011 ◽  
Vol 8 (3) ◽  
pp. 172-182 ◽  
Author(s):  
Claire Bouvattier ◽  
Luigi Maione ◽  
Jérôme Bouligand ◽  
Catherine Dodé ◽  
Anne Guiochon-Mantel ◽  
...  
Keyword(s):  
Hypogonadotropic Hypogonadism ◽  
Congenital Hypogonadotropic Hypogonadism ◽  
Gonadotropin Therapy
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