Article
Endocrinology & Metabolism
Ling Hou, Ke Huang, Chunxiu Gong, Feihong Luo, Haiyan Wei, Liyang Liang, Hongwei Du, Jianping Zhang, Yan Zhong, Ruimin Chen, Xinran Chen, Jiayan Pan, Xianjiang Jin, Ting Zeng, Wei Liao, Deyun Liu, Dan Lan, Shunye Zhu, Zhiya Dong, Huamei Ma, Yu Yang, Feng Xiong, Ping Lu, Shengquan Cheng, Xuefan Gu, Runming Jin, Yu Liu, Jinzhun Wu, Xu Xu, Linqi Chen, Qin Dong, Hui Pan, Zhe Su, Lijun Liu, Xiaoming Luo, Shining Ni, Zhihong Chen, Yuhua Hu, Chunlin Wang, Jing Liu, Li Liu, Biao Lu, Xinli Wang, Yunfeng Wang, Fan Yang, Manyan Zhang, Lizhi Cao, GeLi Liu, Hui Yao, Yaqin Zhan, Mingjuan Dai, Guimei Li, Li Li, Yanjie Liu, Kan Wang, Yanfeng Xiao, Xingxing Zhang, Junhua Dong, Zaiyan Gu, Lirong Ying, Feng Huang, Yanling Liu, Zheng Liu, Jin Ye, Dongmei Zhao, Xu Hu, Zhihong Jiang, Kan Ye, Hong Zhu, Shaoke Chen, Xiaobo Chen, Naijun Wan, Zhuangjian Xu, Qingjin Yin, Hongxiao Zhang, Xiaodong Huang, Jianying Yin, Huifeng Zhang, Pin Li, Ping Yin, Junfen Fu, XiaoPing Luo
Summary: This study examined the effectiveness and safety of long-term polyethylene glycol recombinant human GH (PEG-rhGH) in pediatric growth hormone deficiency (GHD). The results showed that PEG-rhGH had favorable outcomes and was safe for treating children with GHD. The high-dose subgroup had better treatment outcomes compared to the low-dose subgroup, and a weekly dose of 0.2 mg/kg might have additional benefits.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2023)
Review
Endocrinology & Metabolism
Concetta Mastromauro, Cosimo Giannini, Francesco Chiarelli
Summary: Linear growth during childhood is the result of various factors, with the growth hormone-insulin-like growth factor axis playing a crucial role. Growth hormone insensitivity (GHI) is a significant disorder characterized by low IGF-1 levels, normal or elevated GH levels, and lack of IGF-1 response after GH administration. Recombinant IGF-1 preparations can be used for treatment.
FRONTIERS IN ENDOCRINOLOGY
(2023)
Review
Physiology
Jonathan A. Young, Shouan Zhu, Edward O. List, Silvana Duran-Ortiz, Yosri Slama, Darlene E. Berryman
Summary: Growth hormone has anabolic effects on muscle and bone, and also has metabolic effects in various tissues. It is closely associated with aging, with levels declining as individuals age. Although clinical data is inconclusive, animal models are essential in understanding the molecular mechanisms of growth hormone action.
FRONTIERS IN PHYSIOLOGY
(2022)
Article
Endocrinology & Metabolism
Rohan K. Henry, Bradley S. Miller
Summary: This article provides a practical approach to the management of pediatric growth hormone deficiency through 4 case-based presentations. Pediatric GHD has diverse etiology and clinical presentation, and timely intervention can improve growth and metabolic outcomes.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2023)
Article
Endocrinology & Metabolism
Lars Savendahl, Tadej Battelino, Michael Hojby Rasmussen, Meryl Brod, Sebastian Rohrich, Paul Saenger, Reiko Horikawa
Summary: This study aimed to assess the efficacy and safety of somapacitan in treating growth hormone deficiency (GHD) in children, as well as the burden of treatment. The results showed that weekly injections of somapacitan could reduce the burden for patients and their parents/guardians compared to daily GH injections.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2023)
Article
Medicine, General & Internal
Olga Gimenez-Palop, Laia Casamitjana, Raquel Corripio, Susanna Esteba-Castillo, Rocio Pareja, Nestor Albinana, Mercedes Rigla, Assumpta Caixas
Summary: In patients with Prader-Willi syndrome and obesity, plasma kisspeptin levels were higher compared to healthy subjects before treatment. After 12-month GH therapy, lean body mass increased, total fat mass decreased, and plasma kisspeptin levels decreased to normal levels, indicating improvements in body composition.
JOURNAL OF CLINICAL MEDICINE
(2021)
Article
Cell Biology
Gonul Catli, Wen Gao, Corinne Foley, Berk Ozyilmaz, Neslihan Edeer, Gulden Diniz, Monique Losekoot, Jaap van Doorn, Andrew Dauber, Bumin N. Dundar, Jan M. Wit, Vivian Hwa
Summary: STAT5B deficiency is a rare autosomal recessive disorder characterized by severe growth hormone insensitivity and immunodeficiency. However, we report an atypical case of STAT5B deficiency in a young female subject with growth impairment, hypergammaglobulinemia, and elevated B lymphocytes, but no pulmonary disease. The subject had a novel homozygous frame-shift STAT5B variant that resulted in reduced expression and loss-of-function. This suggests that an intact, functional STAT5B is necessary for normal growth and immune function.
MOLECULAR AND CELLULAR ENDOCRINOLOGY
(2023)
Editorial Material
Endocrinology & Metabolism
Gudmundur Johannsson, John J. Kopchick
Summary: This thematic review provides short reviews on growth hormone deficiency and insensitivity in children and adults, covering from basic science to clinical significance.
REVIEWS IN ENDOCRINE & METABOLIC DISORDERS
(2021)
Article
Cell Biology
Renata C. Scalco, Fernanda A. Correa, Naiara C. B. Dantas, Gabriela A. Vasques, Alexander A. L. Jorge
Summary: Hormone resistances associated with growth disorders primarily result from defects in hormone receptors or intracellular signal transduction proteins. The distinct phenotypes of different hormone resistances provide important insights into the role of each hormone and its signaling pathway. This review discusses the molecular and clinical aspects of the main hormone resistances related to short stature in humans.
MOLECULAR AND CELLULAR ENDOCRINOLOGY
(2021)
Article
Biochemistry & Molecular Biology
Estefania Landi, Liliana Karabatas, Tomas Rodriguez Gomez, Lucia Salatino, Paula Scaglia, Laura Ramirez, Ana Keselman, Debora Braslavsky, Nora Sanguineti, Patricia Pennisi, Rodolfo A. Rey, Ignacio Bergada, Hector G. Jasper, Horacio M. Domene, Paola Plazas, Sabina Domene
Summary: Growth hormone activates JAK2-STAT5b pathway, leading to the transcription of IGF1, IGFBP3, and IGFALS. Heterozygous dominant-negative STAT5B variants were found to cause milder growth deficit and immune dysfunction. In zebrafish, overexpression of these variants resulted in developmental malformations, indicating their pathogenicity.
HUMAN MOLECULAR GENETICS
(2023)
Article
Endocrinology & Metabolism
Vivian Hwa, Masanobu Fujimoto, Gaohui Zhu, Wen Gao, Corinne Foley, Meenasri Kumbaji, Ron G. Rosenfeld
Summary: Growth hormone insensitivity (GHI) syndrome is linked to monogenic defects in the growth hormone receptor (GHR) gene, causing growth failure. Recognition of other monogenic defects downstream of GHR has greatly expanded understanding of the primary causes of GHI and growth retardation.
REVIEWS IN ENDOCRINE & METABOLIC DISORDERS
(2021)
Article
Cell Biology
Vivian Hwa
Summary: Growth hormone promotes human postnatal growth by regulating IGF-I production through the GH receptor-JAK2-STAT5B signaling pathway. Mutations associated with STAT5B deficiency can cause GHI syndrome and immune dysfunction, potentially leading to fatal consequences. Somatic activating STAT5B mutations are linked to immune abnormalities but do not impact human linear growth.
MOLECULAR AND CELLULAR ENDOCRINOLOGY
(2021)
Article
Endocrinology & Metabolism
Cesar Luiz Boguszewski
Summary: Complications associated with active Cushing's disease may persist even after successful therapeutic remission, and the presence of growth hormone deficiency (GHD) after disease remission (GHD-CR) can worsen systemic complications caused by hypercortisolism. GHD-CR is more prevalent in women and is associated with younger age at onset of pituitary disease and diagnosis of GHD-CR, as well as higher rates of diabetes, hypertension, low bone mass, fractures, and poor quality of life.
Article
Endocrinology & Metabolism
Shengmin Yang, Xiaoan Ke, Hanting Liang, Ran Li, Huijuan Zhu
Summary: This study reported two cases of GHD with FH and explored the lipid profiles of GHD children and their response to rhGH treatment. It was found that GHD children had higher baseline LDL-C levels but these were significantly reduced after rhGH treatment. The co-occurrence of GHD and FH may worsen the hypercholesteremic condition in affected individuals.
FRONTIERS IN ENDOCRINOLOGY
(2021)
Review
Endocrinology & Metabolism
Michael B. Ranke
Summary: GH deficiency is a rare childhood disease with challenges in clinical diagnosis and treatment. Despite advances in treatment methods, many children still fail to achieve normal adult height.
FRONTIERS IN ENDOCRINOLOGY
(2021)