Pharmacogenomics applied to recombinant human growth hormone responses in children with short stature

Stevens, Adam; Perchard, Reena; Garner, Terence; Clayton, Peter E.; Murray, Philip

doi:10.1007/s11154-021-09637-1

Cited by 5 publications

(1 citation statement)

References 71 publications

(35 reference statements)

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“…Prediction models for various growth phases and diagnoses have been developed ( 145 , 146 ) and are also available in the form of a software medical device ( 147 ). Prediction models will be developed further with the emerging field of pharmacogenomics ( 148 , 149 ). Their applicability will expand with the growing importance of new electronic (self-)learning tools in medicine and in terms of optimizing cost-effective treatment.…”

Section: Prepubertal Growth Phasementioning

confidence: 99%

Short and Long-Term Effects of Growth Hormone in Children and Adolescents With GH Deficiency

Ranke

2021

Front. Endocrinol.

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The syndrome of impaired GH secretion (GH deficiency) in childhood and adolescence had been identified at the end of the 19th century. Its non-acquired variant (naGHD) is, at childhood onset, a rare syndrome of multiple etiologies, predominantly characterized by severe and permanent growth failure culminating in short stature. It is still difficult to diagnose GHD and, in particular, to ascertain impaired GH secretion in comparison to levels in normally-growing children. The debate on what constitutes an optimal diagnostic process continues. Treatment of the GH deficit via replacement with cadaveric pituitary human GH (pit-hGH) had first been demonstrated in 1958, and opened an era of therapeutic possibilities, albeit for a limited number of patients. In 1985, the era of recombinant hGH (r-hGH) began: unlimited supply meant that substantial long-term experience could be gained, with greater focus on efficacy, safety and costs. However, even today, the results of current treatment regimes indicate that there is still a substantial fraction of children who do not achieve adult height within the normal range. Renewed evaluation of height outcomes in childhood-onset naGHD is required for a better understanding of the underlying causes, whereby the role of various factors - diagnostics, treatment modalities, mode of treatment evaluation - during the important phases of child growth - infancy, childhood and puberty - are further explored.

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Section: Prepubertal Growth Phasementioning

confidence: 99%

Short and Long-Term Effects of Growth Hormone in Children and Adolescents With GH Deficiency

Ranke

2021

Front. Endocrinol.

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Molecular diagnosis for growth hormone deficiency in Chinese children and adolescents and evaluation of impact of rare genetic variants on treatment efficacy of growth hormone

Yang

et al. 2022

Clinica Chimica Acta

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Use of ‘omics for endometrial timing: the cycle moves on

Aplin

Stevens

2022

Human Reproduction

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For some years, the prospect of precise and personalized timing of the endometrial cycle for optimal embryo replacement has been held out as a potential solution to low implantation rates. It is envisaged that a receptive state can be defined and reached at a predictable time, and embryo replacement performed in synchrony. In the last century, morphological changes characteristic of the mid secretory phase were defined in precisely timed cycles in women of proven fertility, but when deviations from this standardized schedule occur, their significance for implantation has remained uncertain. ‘Omics technologies have been widely advocated for staging the endometrial cycle and defining a set of biochemical requirements for implantation, but after two decades of research, improvements to pregnancy rates have not followed, and there is a striking lack of agreement regarding the molecular characterization of the receptive state. Some of the rationale underlying these problems is now emerging with the application of higher-level computational and biological methodology. Here, we consider the challenges of defining an endometrial phenotype that can support implantation and continuing pregnancy. Receptivity may be an emergent trait depending on contributions from multiple proteins that have low pathway connectivity. We recommend that authors choose language which rigorously avoids the implication that protocols for molecular staging of the mid secretory phase inherently identify a state of receptivity to the implanting blastocyst.

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Pharmacogenomics applied to recombinant human growth hormone responses in children with short stature

Cited by 5 publications

References 71 publications

Short and Long-Term Effects of Growth Hormone in Children and Adolescents With GH Deficiency

Short and Long-Term Effects of Growth Hormone in Children and Adolescents With GH Deficiency

Molecular diagnosis for growth hormone deficiency in Chinese children and adolescents and evaluation of impact of rare genetic variants on treatment efficacy of growth hormone

Use of ‘omics for endometrial timing: the cycle moves on

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