Compromised Volumetric Bone Density and Microarchitecture in Men With Congenital Hypogonadotropic Hypogonadism

Ostertag, Agnès; Papadakis, Georgios E; Collet, Corinne; Trabado, Séverine; Maione, Luigi; Pitteloud, Nelly; Bouligand, Jérôme; Vernejoul, M. C. De; Cohen‐Solal, Martine; Young, Jacques

doi:10.1210/clinem/dgab169

Cited by 9 publications

(2 citation statements)

References 44 publications

(56 reference statements)

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“…Men with CHH exhibited decreased trabecular thickness and lower cortical bone area despite long-term hormonal treatment. Early treatment during adolescence may enhance trabecular outcomes, highlighting the importance of early diagnosis and interval ( 17 ). Therefore, this study aimed to evaluate the relationship between genotypes and phenotypes in pediatric CHH, thus providing more evidence for early diagnosis and intervention.…”

Section: Introductionmentioning

confidence: 99%

Correlation Analysis of Genotypes and Phenotypes in Chinese Male Pediatric Patients With Congenital Hypogonadotropic Hypogonadism

et al. 2022

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Congenital hypogonadotropic hypogonadism (CHH) can be divided into Kallmann syndrome (KS) and normosmic HH (nHH). The clinical and genetic characteristics of CHH have been studied in adults, but less in pre-adults. The medical records of patients with CHH in our gonad disease database from 2008 to 2020 were evaluated. In total, 125 patients aged 0 to 18 years were enrolled in our study. KS patients had a higher incidence of micropenis compared with nHH (86.2% vs. 65.8%, p=0.009), and 7 patients (5.6%) had hypospadias. Among the 39 patients with traceable family history, delayed puberty, KS/nHH, and olfactory abnormalities accounted for 56.4%, 17.9%, and 15.4%, respectively. In total, 65 patients completed the hCG prolongation test after undergoing the standard hCG test, and the testosterone levels of 24 patients (22.9%) were still lower than 100 ng/dL. In 77 patients, 25 CHH-related genes were identified, including digenic and trigenic mutations in 23 and 3 patients, respectively. The proportion of oligogenic mutations was significantly higher than that in our previous study (27.7% vs. 9.8%). The most common pathogenic genes were FGFR1, PROKR2, CHD7 and ANOS1. The incidence rate of the genes named above was 21.3%, 18.1%, 12.8% and 11.7%, respectively; all were higher than those in adults (<10%). Most mutations in CHH probands were private, except for W178S in PROKR2, V560I in ANOS1, H63D in HS6ST1, and P191L and S671L in IL17RD. By analyzing family history and genes, we found that both PROKR2 and KISS1R may also be shared between constitutional delay of growth and puberty (CDGP) and CHH. L173R of PROKR2 accounts for 40% of the CHH population in Europe and the United States; W178S of PROKR2 accounts for 58.8% of Chinese CHH patients. Micropenis and cryptorchidism are important cues for CHH in children. They are more common in pediatric patients than in adult patients. It is not rare of Leydig cell dysfunction (dual CHH), neither of oligogenic mutations diagnosed CHH in children. Both PROKR2 and KISS1R maybe the potential shared pathogenic genes of CDGP and CHH, and W178S in PROKR2 may be a founder mutation in Chinese CHH patients.

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“…For example, in [19], significant variations in structural composition of trabeculae were found among patients with adolescent idiopathic scoliosis (AIS) and agematched congenital scoliosis (CS). Other studies interested in trabecular conformation are related to the treatment of congenital and acquired craniofacial deformities [20], congenital hypogonadotropic hypogonadism (CHH), Kallmann syndrome (KS) [21], and telomere dysfunction [22].…”

Section: Introductionmentioning

confidence: 99%

Assessment of Quality in Osteoporotic Human Trabecular Bone and Its Relationship to Mechanical Properties

et al. 2021

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We propose an experimental technique for the estimation of quality parameters of post-mortem human bone samples with signs of osteoporosis. Since we were interested in characterizing bone microstructure by evaluating porosity, trabecular thickness, and space, we obtained reference values of those parameters for some of our samples through micro-computerized tomography (micro-CT). Nevertheless, as such technology is not widely available, here we used a 2D imaging approximation of those quality parameters. We based our estimation on simple digital microscopy and calibrated to ensure a percentage of similarity higher than 95% in comparison to those values achieved through micro-CT. Additionally, we subjected our samples to mechanical testing to obtain a complete characterization of our samples and to provide a preliminary assessment of the possible relationship between clinical tests of bone mineral density (BMD) and bone quality parameters. Our results show that BMD may have very low specificity in the assessment of the authentic microstructure of bone, then a broader analysis of quality parameters is required to enhance the reliability of future osteoporosis diagnosis technologies.

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Compromised Volumetric Bone Density and Microarchitecture in Men With Congenital Hypogonadotropic Hypogonadism

Cited by 9 publications

References 44 publications

Correlation Analysis of Genotypes and Phenotypes in Chinese Male Pediatric Patients With Congenital Hypogonadotropic Hypogonadism

Assessment of Quality in Osteoporotic Human Trabecular Bone and Its Relationship to Mechanical Properties

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