Sotos syndrome with marked overgrowth in three Japanese patients with heterozygous likely pathogenic NSD1 variants: case reports with review of literature
We report three Japanese patients with Sotos syndrome accompanied by marked overgrowth, i.e., a 2 8/12-year-old boy with a height of 105.2 cm (+4.4 SD) (patient 1), the mother of patient 1 with a height of 180.8 cm (+4.1 SD) (patient 2), and a 12 10/12-year-old girl with a height of 189.4 cm (+6.3 SD) (patient 3). In addition to the marked overgrowth (tall stature), patients 1-3 exhibited Sotos syndrome-compatible macrocephaly and characteristic features, whereas intellectual and developmental disabilities remained at a borderline level in patient 1 and were apparently absent from patients 2 and 3. Thus, whole exome sequen...
Source: Endocrine Journal - November 21, 2023 Category: Endocrinology Authors: Yohei Masunaga Hiroyuki Ono Yasuko Fujisawa Kiyosu Taniguchi Hirotomo Saitsu Tsutomu Ogata Source Type: research
Prevention of transgenerational transmission of disease susceptibility through perinatal intervention
Endocr J. 2023 Nov 22. doi: 10.1507/endocrj.EJ23-0381. Online ahead of print.ABSTRACTThe observational findings of Barker's original epidemiological studies were generalized as the Barker hypothesis and extended as the Developmental Origins of Health and Disease (DOHaD) theory. Barker et al. proposed that low birthweight (LBW) was associated with the occurrence of various noncommunicable diseases (NCDs) later in life. In other words, LBW itself is associated with the development of NCDs. This led to the DOHaD theory which proposed that an organism may have a specific period of developmental plasticity that is highly sensit...
Source: Endocrine Journal - November 21, 2023 Category: Endocrinology Authors: Takahiro Nemoto Norimasa Sagawa Source Type: research
Sotos syndrome with marked overgrowth in three Japanese patients with heterozygous likely pathogenic NSD1 variants: case reports with review of literature
We report three Japanese patients with Sotos syndrome accompanied by marked overgrowth, i.e., a 2 8/12-year-old boy with a height of 105.2 cm (+4.4 SD) (patient 1), the mother of patient 1 with a height of 180.8 cm (+4.1 SD) (patient 2), and a 12 10/12-year-old girl with a height of 189.4 cm (+6.3 SD) (patient 3). In addition to the marked overgrowth (tall stature), patients 1-3 exhibited Sotos syndrome-compatible macrocephaly and characteristic features, whereas intellectual and developmental disabilities remained at a borderline level in patient 1 and were apparently absent from patients 2 and 3. Thus, whole exome sequen...
Source: Endocrine Journal - November 21, 2023 Category: Endocrinology Authors: Yohei Masunaga Hiroyuki Ono Yasuko Fujisawa Kiyosu Taniguchi Hirotomo Saitsu Tsutomu Ogata Source Type: research
Prevention of transgenerational transmission of disease susceptibility through perinatal intervention
Endocr J. 2023 Nov 22. doi: 10.1507/endocrj.EJ23-0381. Online ahead of print.ABSTRACTThe observational findings of Barker's original epidemiological studies were generalized as the Barker hypothesis and extended as the Developmental Origins of Health and Disease (DOHaD) theory. Barker et al. proposed that low birthweight (LBW) was associated with the occurrence of various noncommunicable diseases (NCDs) later in life. In other words, LBW itself is associated with the development of NCDs. This led to the DOHaD theory which proposed that an organism may have a specific period of developmental plasticity that is highly sensit...
Source: Endocrine Journal - November 21, 2023 Category: Endocrinology Authors: Takahiro Nemoto Norimasa Sagawa Source Type: research
Sotos syndrome with marked overgrowth in three Japanese patients with heterozygous likely pathogenic NSD1 variants: case reports with review of literature
We report three Japanese patients with Sotos syndrome accompanied by marked overgrowth, i.e., a 2 8/12-year-old boy with a height of 105.2 cm (+4.4 SD) (patient 1), the mother of patient 1 with a height of 180.8 cm (+4.1 SD) (patient 2), and a 12 10/12-year-old girl with a height of 189.4 cm (+6.3 SD) (patient 3). In addition to the marked overgrowth (tall stature), patients 1-3 exhibited Sotos syndrome-compatible macrocephaly and characteristic features, whereas intellectual and developmental disabilities remained at a borderline level in patient 1 and were apparently absent from patients 2 and 3. Thus, whole exome sequen...
Source: Endocrine Journal - November 21, 2023 Category: Endocrinology Authors: Yohei Masunaga Hiroyuki Ono Yasuko Fujisawa Kiyosu Taniguchi Hirotomo Saitsu Tsutomu Ogata Source Type: research
Prevention of transgenerational transmission of disease susceptibility through perinatal intervention
Endocr J. 2023 Nov 22. doi: 10.1507/endocrj.EJ23-0381. Online ahead of print.ABSTRACTThe observational findings of Barker's original epidemiological studies were generalized as the Barker hypothesis and extended as the Developmental Origins of Health and Disease (DOHaD) theory. Barker et al. proposed that low birthweight (LBW) was associated with the occurrence of various noncommunicable diseases (NCDs) later in life. In other words, LBW itself is associated with the development of NCDs. This led to the DOHaD theory which proposed that an organism may have a specific period of developmental plasticity that is highly sensit...
Source: Endocrine Journal - November 21, 2023 Category: Endocrinology Authors: Takahiro Nemoto Norimasa Sagawa Source Type: research
A more accurate relationship between serum androgen and metabolism among healthy, nonobese, reproductive-age women based on liquid chromatography-tandem mass spectrometry
This study explored a more precise association between androgens and glycolipid metabolism in healthy women of different ages. Body mass index (BMI), waist circumference (WC), and waist-to-hip ratio were used as body fat indicators. High-density lipoprotein (HDL), low-density lipoprotein, triglycerides, and total cholesterol were used as lipid markers. Fasting blood glucose (FBG), fasting insulin, and the homeostatic model assessment of insulin resistance were used to assess insulin resistance and glucose metabolism. Liquid chromatography-tandem mass spectrometry was used to measure androgen indicators, including testoster...
Source: Endocrine Journal - November 19, 2023 Category: Endocrinology Authors: Sha Ye Yepei Huang Yi Lu Xiaoyan Li Meiling Ye Hongyu Lu Junhua Shi Jian Huang Hong Cai Source Type: research
Composite paraganglioma-ganglioneuroma with atypical catecholamine profile and phenylethanolamine N-methyltransferase expression: a case report and literature review
We present the case of a 46-year-old woman with an atypical catecholamine profile who was preoperatively diagnosed with pheochromocytoma. However, postoperative pathology revealed that the patient had an extra-adrenal paraganglioma accompanied by a ganglioneuroma, which led to the diagnosis of a composite tumor. Interestingly, PNMT is expressed in both paragangliomas and ganglioneuromas. In addition, we reviewed reported composite paragangliomas and compared their clinical features with those of composite pheochromocytomas. We also discuss various aspects of the etiology of composite paragangliomas and the mechanism by whi...
Source: Endocrine Journal - November 12, 2023 Category: Endocrinology Authors: Yuriko Sasaki Maki Kanzawa Masaaki Yamamoto Keitaro Kanie Hironori Bando Kei Yoshino Yushi Hirota Katsumi Shigemura Masato Fujisawa Wataru Ogawa Hidenori Fukuoka Source Type: research
