Growth Hormone Disorders: Insights into Causation, Diagnosis, and Treatment

A special issue of Journal of Clinical Medicine (ISSN 2077-0383). This special issue belongs to the section "Endocrinology & Metabolism".

Deadline for manuscript submissions: closed (10 May 2023) | Viewed by 9387

Special Issue Editors


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Guest Editor
1. Marseille Medical Genetics, U1251, Aix Marseille University, INSERM,13005 Marseille, France
2. Department of Endocrinology, Assistance Publique-Hôpitaux de Marseille (AP-HM), Hôpital de la Conception, Centre de Référence des Maladies rares Hypophysaires HYPO, 13005 Marseille, France
Interests: endocrinology; pituitary adenoma; acromegaly

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Guest Editor
IRCCS Ospedale Policlinico San Martino, 16132, Gonova, Italy
Interests: pituitary; diabetes insipidus; SIADH; salt intake; secondary hypertension
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Special Issue Information

Dear Colleagues,

More than 60 years after Growth hormone (GH) was isolated from the human pituitary gland (1956), disorders related to this hormone represent major issues for the (neuro)endocrine community. Over the past years, a vast body of research and substantial progresses, have been conducted in the diagnosis procedures, the molecular profiling, the therapeutic strategies or even the dedicated follow-up of Acromegaly, a condition known to be almost exclusively due to a GH-secreting pituitary neuroendocrine tumor. Likewise, outlines of the causes, the diagnosis and, eventually, the treatment of GH deficiency, especially in the adult population, have evolved. Long-term exposition to GH replacement therapy is currently in the scope of many high-quality studies, conducted in the sake of patient’s safety and quality-of-life.

Finally, GH disorders define a group of diseases in which a lot of expectations are pending, regarding the development of innovative technological tools that will undoubtedly optimize the management of patients, in the modern era of personalized medicine. 

With this dedicated issue entitled “Growth Hormone Disorders: Insights into Causation, Diagnosis, and Treatment”, we kindly invite you to submit your work, and share your experience on this passionating topic.

Dr. Thomas Cuny
Dr. Federico Gatto
Guest Editor

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Keywords

  • growth hormone
  • acromegaly
  • AIP
  • somatostatin
  • pegvisomant
  • GPR101
  • gigantism
  • pituitary
  • GHRH

Published Papers (4 papers)

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Research

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12 pages, 1711 KiB  
Article
Resistance to Somatostatin Analogs in Italian Acromegaly Patients: The MISS Study
by Alessandro Maria Berton, Nunzia Prencipe, Luca Bertero, Marco Baldi, Chiara Bima, Marina Corsico, Antonio Bianchi, Giovanna Mantovani, Francesco Ferraù, Paola Sartorato, Irene Gagliardi, Ezio Ghigo and Silvia Grottoli
J. Clin. Med. 2023, 12(1), 25; https://doi.org/10.3390/jcm12010025 - 20 Dec 2022
Cited by 6 | Viewed by 1651
Abstract
Approximately 60% of acromegaly patients are not adequately controlled by first-generation somatostatin receptor ligands. This multicenter retrospective study aimed to identify the most relevant biomarkers specific for the Italian acromegaly population. Resistant patients were enrolled consecutively based on time of neurosurgery, while responders [...] Read more.
Approximately 60% of acromegaly patients are not adequately controlled by first-generation somatostatin receptor ligands. This multicenter retrospective study aimed to identify the most relevant biomarkers specific for the Italian acromegaly population. Resistant patients were enrolled consecutively based on time of neurosurgery, while responders were collected in a 1:2 ratio. Clinical characteristics and T2-intensity on MRI scans at diagnosis were retrospectively re-evaluated. Histological analyses of CAM5.2 granulation patterns and SSTR2 expression were centrally performed. Sixty-three resistant patients and thirty-three responders were enrolled. A low-grade SSTR2 expression was the most relevant predictor of resistance identified (OR 4.58, p = 0.013), even considering CAM5.2 immunohistochemistry (OR 2.65, p = 0.047). T2-iso/hyperintense pattern on MRI was also associated with a 3.3-fold greater probability of poor response to medical treatment (p = 0.027), as well as a young age at diagnosis (OR 0.96, p = 0.035). In those patients treated only after neurosurgery due to persistent GH-hypersecretion (51, 53.1%) the absence of any appreciable adenomatous remnant on postoperative MRI was associated with a negligible risk of resistance (OR 0.04, p = 0.003). In the Italian acromegaly population, a low-grade SSTR2 expression seems to be the most relevant predictor of resistance to first-generation somatostatin receptor ligands, followed by a SG/intermediate cytokeratin pattern and a T2-iso/hyperintense MRI signal. Full article
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13 pages, 867 KiB  
Article
Trabecular Bone Score as a Reliable Measure of Lumbar Spine Bone Microarchitecture in Acromegalic Patients
by Elena Nazzari, Andrea Casabella, Sabrina Paolino, Claudia Campana, Giuliana Corica, Federica Nista, Angelo Milioto, Alberto Tagliafico, Manuela Albertelli, Mara Boschetti, Marcello Bagnasco, Maurizio Cutolo, Diego Ferone and Federico Gatto
J. Clin. Med. 2022, 11(21), 6374; https://doi.org/10.3390/jcm11216374 - 28 Oct 2022
Cited by 5 | Viewed by 1947
Abstract
Although GH and IGF-1 excess has a controversial impact on bone mineral density (BMD), acromegalic patients display variable degrees of bone structure impairment. In this study, we aim to investigate the usefulness of trabecular bone score (TBS), compared to BMD, in identifying acromegalic [...] Read more.
Although GH and IGF-1 excess has a controversial impact on bone mineral density (BMD), acromegalic patients display variable degrees of bone structure impairment. In this study, we aim to investigate the usefulness of trabecular bone score (TBS), compared to BMD, in identifying acromegalic patients with impaired lumbar spine trabecular microarchitecture. Forty-four acromegalic patients were investigated for disease control, metabolic and gonadal status, bone metabolism parameters, and the presence of vertebral fractures (VFs). Patients and matched healthy controls underwent BMD and TBS examination. Mean TBS values were lower in patients than in controls (p < 0.001), without significant differences in mean lumbar and femoral BMD. TBS values were significantly higher in controlled patients compared to the uncontrolled ones (p = 0.012). No significant differences were found in bone markers with respect to disease control. Mean TBS or lumbar BMD did not significantly differ in patients with or without VFs (prevalence 11.4%). TBS and BMD levels were lower in hypogonadal patients compared to the eugonadal ones (p = 0.030 and p < 0.001, respectively). In conclusion, TBS values are significantly lower in patients than in controls, confirming the presence of impaired lumbar spine trabecular bone in acromegaly. Both uncontrolled disease and hypogonadism contribute to TBS deterioration in acromegaly. Full article
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12 pages, 644 KiB  
Article
Temple Syndrome: Clinical Findings, Body Composition and Cognition in 15 Patients
by Alicia F. Juriaans, Gerthe F. Kerkhof, Eva F. Mahabier, Theo C. J. Sas, Nitash Zwaveling-Soonawala, Robbert N. H. Touwslager, Joost Rotteveel and Anita C. S. Hokken-Koelega
J. Clin. Med. 2022, 11(21), 6289; https://doi.org/10.3390/jcm11216289 - 25 Oct 2022
Cited by 6 | Viewed by 3516
Abstract
Background: Temple syndrome (TS14) is an imprinting disorder caused by a maternal uniparental disomy of chromosome 14 (UPD(14)mat), paternal deletion of 14q32 or an isolated methylation defect of the MEG3-DMR. Studies on phenotypical characteristics in TS14 are scarce and patients with TS14 often [...] Read more.
Background: Temple syndrome (TS14) is an imprinting disorder caused by a maternal uniparental disomy of chromosome 14 (UPD(14)mat), paternal deletion of 14q32 or an isolated methylation defect of the MEG3-DMR. Studies on phenotypical characteristics in TS14 are scarce and patients with TS14 often experience delay in diagnosis, which has adverse effects on their health. TS14 is often characterized as either Prader–Willi-like, Silver–Russell-like or as a Silver–Russell spectrum disorder. Methods: This study describes 15 patients with TS14 who visited the Dutch Reference Center for Prader–Willi-like from December 2018 to January 2022. Results: Eight patients had UPD(14)mat and seven a methylation defect. The most common symptoms were intra-uterine growth retardation (IUGR) (100%), hypotonia (100%), precocious puberty (89%), small for gestational age (SGA) birth (67%), tube feeding after birth (53%) and psycho-behavioral problems (53%). Median (interquartile range (IQR)) IQ was 91.5 (84.25; 100.0), whilst many patients were enrolled in special education (54%). The median (IQR) fat mass % (FM%) SDS was 2.53 (2.26; 2.90) and lean body mass (LBM) SDS −2.03 (−3.22; −1.28). There were no significant differences in clinical characteristics between patients with a UPD(14)mat and a methylation defect. Conclusions: Our patients share a distinct phenotype consisting of IUGR, SGA birth, precocious puberty, hypotonia, tube feeding after birth, psycho-behavioral problems and abnormal body composition with a high FM% and low LBM. Whilst similarities with Prader–Willi syndrome (PWS) and Silver–Russell syndrome (SRS) exist, TS14 is a discernible syndrome, deserving a tailored clinical approach. Testing for TS14 should be considered in patients with a PWS or SRS phenotype in infancy if PWS/SRS testing is negative. Full article
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Review

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15 pages, 617 KiB  
Review
Long-Term Safety of Growth Hormone Deficiency Treatment in Cancer and Sellar Tumors Adult Survivors: Is There a Role of GH Therapy on the Neoplastic Risk?
by Carolina Di Somma, Elisabetta Scarano, Rossana Arianna, Fiammetta Romano, Mariarosaria Lavorgna, Domenico Serpico and Annamaria Colao
J. Clin. Med. 2023, 12(2), 662; https://doi.org/10.3390/jcm12020662 - 13 Jan 2023
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Abstract
Experimental studies support the hypothesis that GH/IGF-1 status may influence neoplastic tissue growth. Epidemiological studies suggest a link between GH/IGF-1 status and cancer risk. However, several studies regarding GH replacement safety in childhood cancer survivors do not show a prevalence excess of de [...] Read more.
Experimental studies support the hypothesis that GH/IGF-1 status may influence neoplastic tissue growth. Epidemiological studies suggest a link between GH/IGF-1 status and cancer risk. However, several studies regarding GH replacement safety in childhood cancer survivors do not show a prevalence excess of de novo cancers, and several reports on children and adults treated with GH have not shown an increase in observed cancer risk in these patients. The aim of this review is to provide an at-a-glance overview and the state of the art of long-term effects of GH replacement on neoplastic risk in adults with growth hormone deficiency who have survived cancer and sellar tumors. Full article
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