scholarly journals Hormonal changes throughout puberty in congenital hypogonadotropic hypogonadism and Pump indication

2020 ◽  
Author(s):  
Xiaoya Ren ◽  
Yuanyuan Tian ◽  
Guoshuang Feng ◽  
Yi Wang ◽  
Beibei Zhang ◽  
...  
Keyword(s):  
Operating Characteristic ◽  
Hypogonadotropic Hypogonadism ◽  
Hormonal Changes ◽  
Normal Children ◽  
Pump Therapy ◽  
Hpg Axis ◽  
Congenital Hypogonadotropic Hypogonadism ◽  
Testis Volume ◽  
Lhrh Therapy ◽  
Time Point

Abstract Background It is difficult to capture the exact time of pubertal initiation in normal children, including the detailed patterns of physical development, the cut-off values of hormone changing at pubertal initiation and maturation. Method Patients diagnosed with CHH were included in to prospectively investigate the hormones changes by GnRH pulsed pump therapy. We investigate testis volume and the hormones of HPG axis at basal and LHRH stimulated at 0 and the end of week 1, 4, and 12. Receiver operating characteristic (ROC) curve was plotted to determine the cut-off values of pubertal hormones.Results: Twenty-four CHH patients received pulse LHRH therapy were rolled in this study. ①stimulated FSH reached peak and LH increased significantly at week4. At this time point we workup the cut-off hormones values for pubertal initiation by ROC. They are: basal LH 1.32 IU/L, LH/FSH 0.34, the stimulated LH 4.45 IU/L and LH/FSH 0.54 for initiation. ②Basal INH-b elevated at week1, followed by T at week4, then AMH decreased at week12 coupled with testicle and penis growth. ③the pituitary response of CHH is normal when LH in the range of 1.81-3.17 IU/L and the LH / FSH in the range of 0.57-0.87. Conclusion ① we got the cut-off values of puberty initiation: basal LH 1.32 IU/L, stimulated LH 4.45 and LH/FSH 0.54 signed HPG axis activated. ②we got the cut-off hormones values of normal pituitary response: stimulated LH in the range of 1.81-3.17 IU/L and LH / FSH in the range of 0.57-0.87.

scholarly journals Congenital hypogonadotropic hypogonadism: from clinical characteristics to genetic aspects

2021 ◽  
Vol 5 (3) ◽  
pp. 97-105
Author(s):  
Ahreum Kwon ◽  
Ho-Seong Kim
Keyword(s):  
Clinical Characteristics ◽  
Pubertal Development ◽  
Hypogonadotropic Hypogonadism ◽  
Reproductive Function ◽  
Delayed Puberty ◽  
Activation Process ◽  
Hpg Axis ◽  
Congenital Hypogonadotropic Hypogonadism ◽  
Sexual Characteristics ◽  
Main Component

Congenital hypogonadotropic hypogonadism (CHH) is a rare disorder caused by a deficiency in gonadotropin-releasing hormone (GnRH). CHH is characterized by delayed puberty and/or infertility; this is because GnRH is the main component of the hypothalamic-pituitary-gonadal (HPG) axis, which is a key factor in pubertal development and reproductive function completion. However, since the development of sexual characteristics and reproduction begins in the prenatal period and is very complex and delicate, the clinical characteristics and involved genes are very diverse. In particular, the HPG axis is activated three times in a lifetime, and the symptoms and biochemical findings of CHH vary by period. In addition, related genes also vary according to the formation and activation process of the HPG axis. In this review, the clinical characteristics and treatment of CHH according to HPG axis activation and different developmental periods are reviewed, and the related genes are summarized according to their pathological mechanisms.

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.

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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