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Article ; Online: Metreleptin worked in a diabetic woman with a history of hematopoietic stem cell transplantation (HSCT) during infancy: further support for the concept of 'HSCT-associated lipodystrophy'.

Adachi, Masanori / Muroya, Koji / Hanakawa, Junko / Asakura, Yumi

2020 Volume 68, Issue 4, Page(s) 399–407

Abstract: A 17-year-old woman with a history of childhood leukemia and hematopoietic stem cell transplantation (HSCT), preceded by total body irradiation, developed diabetes, dyslipidemia, fatty liver, and marked insulin resistance. Based on Dunnigan phenotype, ... ...

Abstract	A 17-year-old woman with a history of childhood leukemia and hematopoietic stem cell transplantation (HSCT), preceded by total body irradiation, developed diabetes, dyslipidemia, fatty liver, and marked insulin resistance. Based on Dunnigan phenotype, HSCT-associated lipodystrophy was suspected. Because of rapid deterioration of diabetes control, metreleptin was introduced at 23 years of age upon receipt of her caregiver's documented consent. This trial was initially planned as a prospective 18 month-long study, with regular assessments of the patient's physical activity, food intake, and body composition analysis. However, because an abrupt and transient attenuation of the metreleptin effect occurred 16 months after the treatment initiation, the entire course of 28 months is reported here. Over the period, her HbA1c decreased from 10.9% to 6.7% despite no significant increase of physical activity and with a stable food intake. Decreased levels of triglyceride and non-HDL cholesterol were found. Her liver function improved, indicating the amelioration of fatty liver. In addition, a 25% reduction in the subcutaneous fat area at umbilical level was found, accompanied by a decrease in fat percentage of both total-body and trunk. The formation of neutralizing antibodies to metreleptin may be responsible for the transient loss of efficacy, considering a sudden elevation in her serum leptin level. In conclusion, metreleptin is useful for the management of HSCT-associated lipodystrophy, supporting the concept that adipose tissue dysfunction is responsible for diverse post-HSCT metabolic aberrations.
MeSH term(s)	Adolescent ; Body Composition/drug effects ; Body Weight/drug effects ; Carbohydrate Metabolism/drug effects ; Diabetes Mellitus/blood ; Diabetes Mellitus/drug therapy ; Diabetes Mellitus/etiology ; Female ; Hematopoietic Stem Cell Transplantation/adverse effects ; Humans ; Leptin/administration & dosage ; Leptin/analogs & derivatives ; Leptin/blood ; Leptin/therapeutic use ; Lipodystrophy/blood ; Lipodystrophy/drug therapy ; Lipodystrophy/etiology ; Treatment Outcome ; Young Adult
Chemical Substances	Leptin ; metreleptin (TL60C27RLH)
Language	English
Publishing date	2020-11-21
Publishing country	Japan
Document type	Case Reports ; Journal Article
ZDB-ID	1151918-6
ISSN	1348-4540 ; 0918-8959
ISSN (online)	1348-4540
ISSN	0918-8959
DOI	10.1507/endocrj.EJ20-0325
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Uh III Zs.207: Show issues

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Article ; Online: Quantification of serum thyroid hormones using tandem mass spectrometry in patients with Down syndrome.

Iwano, Reiko / Toki, Machiko / Hanakawa, Junko / Asakura, Yumi / Adachi, Masanori / Tanaka, Yukichi / Muroya, Koji

Biomedical chromatography : BMC

2021 Volume 36, Issue 1, Page(s) e5249

Abstract: Thyroid dysfunction is common in patients with Down syndrome (DS), the most common chromosomal disorder. Thyroid hormones (THs) are important for normal growth, neurodevelopment, and metabolism, highlighting the importance of quantifying the levels in ... ...

Abstract	Thyroid dysfunction is common in patients with Down syndrome (DS), the most common chromosomal disorder. Thyroid hormones (THs) are important for normal growth, neurodevelopment, and metabolism, highlighting the importance of quantifying the levels in patients with DS. However, current methods possess cross-reactivity that results in inaccuracies in quantification. We aimed at developing a new analytical method for quantifying the total 3,3',5-triiodo-l-thyronine (TT3), total 3,3',5,5'-tetraiodo-l-thyronine (TT4), 3,3',5'-triiodo-l-thyronine, and reverse T3 (rT3) levels using LC-MS/MS. Repeatability and reproducibility with coefficient of variation values of 2-9 and 3-13%, respectively, were acceptable, suggesting that the assay was suitable for measuring serum THs. We measured the serum TH levels of patients with DS but without thyroid dysfunction (age, 3-20 years) and compared the levels to those of controls (patients with idiopathic short stature; age, 3-17 years). When TH levels were summarized by age group, the serum TT4 concentrations were not significantly different between the controls and patients with DS across all age groups. Meanwhile, the serum TT3 concentrations differed according to age. In addition, the serum rT3 concentrations were significantly higher in patients with DS than in controls, except for those in the 12-14 age group. We also calculated the T3/T4 and rT3/T4 ratios to elucidate the reason for the higher rT3 in patients with DS; however, no useful findings were obtained. Thus, further investigation is needed to clarify our findings.
MeSH term(s)	Adolescent ; Adult ; Child ; Child, Preschool ; Chromatography, Liquid/methods ; Down Syndrome ; Female ; Humans ; Limit of Detection ; Linear Models ; Male ; Reproducibility of Results ; Tandem Mass Spectrometry/methods ; Thyroid Hormones/blood ; Young Adult
Chemical Substances	Thyroid Hormones
Language	English
Publishing date	2021-10-19
Publishing country	England
Document type	Journal Article
ZDB-ID	632848-9
ISSN	1099-0801 ; 0269-3879
ISSN (online)	1099-0801
ISSN	0269-3879
DOI	10.1002/bmc.5249
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Zs.A 2166: Show issues

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Article ; Online: GWAS of thyroid dysgenesis identifies a risk locus at 2q33.3 linked to regulation of Wnt signaling.

Narumi, Satoshi / Opitz, Robert / Nagasaki, Keisuke / Muroya, Koji / Asakura, Yumi / Adachi, Masanori / Abe, Kiyomi / Sugisawa, Chiho / Kühnen, Peter / Ishii, Tomohiro / Nöthen, Markus M / Krude, Heiko / Hasegawa, Tomonobu

Human molecular genetics

2022 Volume 31, Issue 23, Page(s) 3967–3974

Abstract: Congenital hypothyroidism due to thyroid dysgenesis (TD), presented as thyroid aplasia, hypoplasia or ectopia, is one of the most prevalent rare diseases with an isolated organ malformation. The pathogenesis of TD is largely unknown, although a genetic ... ...

Abstract	Congenital hypothyroidism due to thyroid dysgenesis (TD), presented as thyroid aplasia, hypoplasia or ectopia, is one of the most prevalent rare diseases with an isolated organ malformation. The pathogenesis of TD is largely unknown, although a genetic predisposition has been suggested. We performed a genome-wide association study (GWAS) with 142 Japanese TD cases and 8380 controls and found a significant locus at 2q33.3 (top single nucleotide polymorphism, rs9789446: P = 4.4 × 10-12), which was replicated in a German patient cohort (P = 0.0056). A subgroup analysis showed that rs9789446 confers a risk for thyroid aplasia (per allele odds ratio = 3.17) and ectopia (3.12) but not for hypoplasia. Comprehensive epigenomic characterization of the 72-kb disease-associated region revealed that it was enriched for active enhancer signatures in human thyroid. Analysis of chromosome conformation capture data showed long-range chromatin interactions of this region with promoters of two genes, FZD5 and CCNYL1, mediating Wnt signaling. Moreover, rs9789446 was found to be a thyroid-specific quantitative trait locus, adding further evidence for a cis-regulatory function of this region in thyroid tissue. Specifically, because the risk rs9789446 allele is associated with increased thyroidal expression of FDZ5 and CCNYL1 and given the recent demonstration of perturbed early thyroid development following overactivation of Wnt signaling in zebrafish embryos, an enhanced Wnt signaling in risk allele carriers provides a biologically plausible TD mechanism. In conclusion, our work found the first risk locus for TD, exemplifying that in rare diseases with relatively low biological complexity, GWAS may provide mechanistic insights even with a small sample size.
MeSH term(s)	Animals ; Humans ; Genome-Wide Association Study ; Zebrafish/genetics ; Wnt Signaling Pathway/genetics ; Rare Diseases ; Thyroid Dysgenesis/genetics ; Genetic Predisposition to Disease
Language	English
Publishing date	2022-10-23
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	1108742-0
ISSN	1460-2083 ; 0964-6906
ISSN (online)	1460-2083
ISSN	0964-6906
DOI	10.1093/hmg/ddac093
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Zs.A 3469: Show issues

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Article ; Online: Spontaneous virilization around puberty in NR5A1-related 46,XY sex reversal: additional case and a literature review.

Adachi, Masanori / Hasegawa, Tomonobu / Tanaka, Yukichi / Asakura, Yumi / Hanakawa, Junko / Muroya, Koji

Endocrine journal

2018 Volume 65, Issue 12, Page(s) 1187–1192

Abstract: A heterozygous NR5A1 mutation is one of the most frequent causes of 46,XY DSD (disorders of sex development). We here reported a NR5A1-related 46,XY DSD patient, who first received endocrinological attention at 10 years of age for clitoromegaly. The ... ...

Abstract	A heterozygous NR5A1 mutation is one of the most frequent causes of 46,XY DSD (disorders of sex development). We here reported a NR5A1-related 46,XY DSD patient, who first received endocrinological attention at 10 years of age for clitoromegaly. The patient had been reared as a girl, and no signs of virilization had been detected before. On examination, her clitoris was 35 mm long and 10 mm wide, with Tanner 3° pubic hair. Urogenital sinus and labial fusion was absent, while her uterus was found to be severely hypoplastic. Her basal testosterone level was 94.8 ng/dL, suggesting the presence of functioning Leydig cells. Gonadal histology revealed bilateral dysplastic testes consisting of mostly Sertoli cell-only tubules and Leydig cell hyperplasia. Novel heterozygous Arg313Leu substitution in NR5A1 was identified in the patient. Literature search confirmed twelve other cases of this scenario, namely, severe under-virilization in utero followed by spontaneous virilization around puberty in NR5A1-related 46,XY DSD. Of interest, Leydig cell hyperplasia was documented in 6 out of 9 patients for whom testicular histology was available. To keep in mind about the possible restoration of Leydig cell function around puberty, even in patients without discernible in utero androgen effect, may be of clinical significance, because it will give a great impact on the judgement about sex assignment.
MeSH term(s)	Adult ; Female ; Gonadal Dysgenesis, 46,XY/blood ; Gonadal Dysgenesis, 46,XY/diagnostic imaging ; Gonadal Dysgenesis, 46,XY/genetics ; Humans ; Magnetic Resonance Imaging ; Steroidogenic Factor 1/genetics ; Testosterone/blood ; Uterus/diagnostic imaging ; Virilism/blood ; Virilism/diagnostic imaging ; Virilism/genetics
Chemical Substances	Steroidogenic Factor 1 ; Testosterone (3XMK78S47O)
Language	English
Publishing date	2018-09-15
Publishing country	Japan
Document type	Case Reports ; Journal Article ; Review
ZDB-ID	1151918-6
ISSN	1348-4540 ; 0918-8959
ISSN (online)	1348-4540
ISSN	0918-8959
DOI	10.1507/endocrj.EJ18-0218
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Article: Myhre syndrome: a rare craniofacial disorder.

Ishibashi, Naho / Sasaki, Yasunori / Asakura, Yumi

Cranio : the journal of craniomandibular practice

2014 Volume 32, Issue 4, Page(s) 300–306

Abstract: Aims: Myhre syndrome is a rare disorder characterized by abnormal growth of the skeleton, muscles, and joints. The relationship of this syndrome to craniofacial growth and development is unknown. To the authors' knowledge, this is the first Japanese ... ...

Abstract	Aims: Myhre syndrome is a rare disorder characterized by abnormal growth of the skeleton, muscles, and joints. The relationship of this syndrome to craniofacial growth and development is unknown. To the authors' knowledge, this is the first Japanese case ever studied. Methodology: At 10 years and 7 months of age, the patient was referred to the Department of Pediatric Dentistry in the authors' hospital, complaining of a dental problem. Results: The craniofacial region exhibited a long lower face, high and narrowed palate with submucous cleft palate, maxillary constriction, prognathism, open bite, and crowding of the dental arch. Some of these morphological disorders could be affected by the functional manifestations of muscular hypertrophy of the cheek region, muscle tenseness, or the low position of the tongue. General disorders of muscular hypertrophy, thickened bones, and limited joint mobility are consistent with craniofacial findings of muscle tension in the cheek region, thickened calvarium, and limitation of temporomandibular joint movement. The submucous cleft palate and crown deformation of the mandibular central incisor may be affected by dysfunctions of SMAD4 signaling. Conclusions: Craniofacial growth and development is affected by the general characteristics of Myhre syndrome, and could be important in its diagnosis.
Language	English
Publishing date	2014-10
Publishing country	England
Document type	Journal Article
ZDB-ID	632570-1
ISSN	2151-0903 ; 0886-9634
ISSN (online)	2151-0903
ISSN	0886-9634
DOI	10.1179/0886963413Z.00000000024
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Zs.A 2071: Show issues

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Article ; Online: Risks of Myocarditis and Pericarditis Following Vaccination with SARS-CoV-2 mRNA Vaccines in Japan: An Analysis of Spontaneous Reports of Suspected Adverse Events.

Kobayashi, Hidetaka / Fukuda, Sayoko / Matsukawa, Rina / Asakura, Yumi / Kanno, Yuri / Hatta, Tomohiro / Saito, Yurina / Shimizu, Yuki / Kawarasaki, Shuichi / Kihara, Mari / Kinoshita, Natsumi / Umeda, Hikari / Noda, Tatsuya / Imamura, Tomoaki / Nishioka, Yuichi / Yamaguchi, Toshihiro / Hayashi, Shuichiro / Iguchi, Toyotaka

Therapeutic innovation & regulatory science

2022 Volume 57, Issue 2, Page(s) 329–342

Abstract: Objective: To identify the risks of myocarditis or pericarditis after vaccination with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) mRNA vaccines in Japan.: Methods: We conducted an observed-to-expected analysis (OE analysis) of ... ...

Abstract	Objective: To identify the risks of myocarditis or pericarditis after vaccination with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) mRNA vaccines in Japan. Methods: We conducted an observed-to-expected analysis (OE analysis) of spontaneous reports of suspected adverse events from pharmaceutical companies, calculating rate ratios with myocarditis and pericarditis after the vaccination of the mRNA vaccines Comirnaty (BNT162b2) and Spikevax (mRNA-1273) and expected rate of myocarditis and pericarditis in the population before the COVID-19 pandemic. These reports dated from 17/2/2021 to 14/11/2021 and from 22/5/2021 to 14/11/2021 for Comirnaty and Spikevax, respectively. The observed-to-expected ratios (OE ratios) for each vaccine were estimated by age groups and sex. Results: We identified 281 and 195 cases of myocarditis or pericarditis for Comirnaty and Spikevax, respectively, which were administrated 163,059,502 and 31,768,352 doses for Comirnaty and Spikevax until the 14th of November 2021, respectively. The OE ratios were statistically significantly higher in adolescent and young adult males in their age of teens and twenties after the second dose in a two-dose series [Comirnaty in teens male: 6.15 (95% CI, 2.26-21.98), Comirnaty in twenties male: 2.86 (95% CI, 1.13-8.38), Spikevax in teens male: 41.59 (95% CI, 5.64-43,281.94), Spikevax in twenties male: 16.84 (95%CI, 6.77-57.49)]. Conclusions: Risks of myocarditis and pericarditis following SARS-CoV-2 mRNA vaccines in Japan seems to be significantly elevated for adolescent and young adult males.
MeSH term(s)	Adolescent ; Young Adult ; Male ; Humans ; COVID-19 Vaccines ; BNT162 Vaccine ; SARS-CoV-2 ; 2019-nCoV Vaccine mRNA-1273 ; Japan ; Myocarditis ; COVID-19 ; Pandemics ; Vaccination ; Pericarditis ; mRNA Vaccines
Chemical Substances	COVID-19 Vaccines ; BNT162 Vaccine ; 2019-nCoV Vaccine mRNA-1273 (EPK39PL4R4) ; mRNA Vaccines
Language	English
Publishing date	2022-10-30
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2708397-4
ISSN	2168-4804 ; 2168-4790
ISSN (online)	2168-4804
ISSN	2168-4790
DOI	10.1007/s43441-022-00466-1
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Article: The ratio of serum free triiodothyronine to free thyroxine in children: a retrospective database survey of healthy short individuals and patients with severe thyroid hypoplasia or central hypothyroidism.

Oto, Yuji / Muroya, Koji / Hanakawa, Junko / Asakura, Yumi / Adachi, Masanori

Thyroid research

2015 Volume 8, Page(s) 10

Abstract: Background: The ratio of serum free triiodothyronine (FT3) to free thyroxine (FT4) has been shown to be constant in healthy adults. However, this ratio has been found to be decreased in athyreotic adult patients on levothyroxine (L-T4) supplementation. ... ...

Abstract	Background: The ratio of serum free triiodothyronine (FT3) to free thyroxine (FT4) has been shown to be constant in healthy adults. However, this ratio has been found to be decreased in athyreotic adult patients on levothyroxine (L-T4) supplementation. In order to better evaluate thyroid-related pathologies in children as well as to establish a reference range, we investigated the FT3/FT4 ratio in a pediatric population. Furthermore, we evaluated this ratio in children with congenital hypothyroidism as well as those with central hypothyroidism. Methods: A reference range for the FT3/FT4 ratio was obtained from 129 Japanese children (3-17 y) with idiopathic short stature who were designated as the 'Control' group. Patients with congenital hypothyroidism due to athyreosis or severe thyroid hypoplasia (designated as 'A/Hypoplasia'), as well as patients with central hypothyroidism ('Central'), were recruited from the institutional database. For each group, the mean FT3/FT4 ratio was obtained. Results: In the Control group, the FT3/FT4 ratio was 3.03 ± 0.38 10(-2) pg/ng (mean ± standard deviation) with no age or gender differences. A/Hypoplasia patients showed a significantly decreased mean FT3/FT4 ratio (2.17 ± 0.33, P < 0.001) compared to Control patients, with decreased FT3 and elevated FT4 levels. The Central group also showed a significantly decreased FT3/FT4 ratio (2.55 ± 0.45, P < 0.001) compared to the Control group, with decreased FT3 and equivalent FT4 levels. Conclusions: The FT3/FT4 ratio appears to be constant between the ages of 3-17 y. Children on L-T4 due to congenital thyroid a/hypoplasia or central hypothyroidism have a decreased FT3/FT4 ratio compared to short normal children.
Language	English
Publishing date	2015-07-08
Publishing country	England
Document type	Journal Article
ZDB-ID	2454440-1
ISSN	1756-6614
ISSN	1756-6614
DOI	10.1186/s13044-015-0023-5
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Article ; Online: Previous Immune Checkpoint Inhibitor Treatment to Increase the Efficacy of Docetaxel and Ramucirumab Combination Chemotherapy.

Harada, Daijiro / Takata, Kenji / Mori, Shunta / Kozuki, Toshiyuki / Takechi, Yoshika / Moriki, Satoko / Asakura, Yumi / Ohno, Takayuki / Nogami, Naoyuki

Anticancer research

2019 Volume 39, Issue 9, Page(s) 4987–4993

Abstract: Background/aim: For immune checkpoint inhibitor (ICI)-pretreated patients, docetaxel and ramucirumab (DOC+RAM) combination therapy may be more effective compared to patients not receiving ICI treatment.: Patients and methods: From June 2013 to July ... ...

Abstract	Background/aim: For immune checkpoint inhibitor (ICI)-pretreated patients, docetaxel and ramucirumab (DOC+RAM) combination therapy may be more effective compared to patients not receiving ICI treatment. Patients and methods: From June 2013 to July 2018, 39 patients with advanced/recurrent non-small cell lung cancer underwent DOC+RAM therapy. We analyzed the efficacy and safety of DOC+RAM therapy based on the presence (pre-ICI+) or absence (pre-ICI-) of ICI pretreatment history. Results: Of the 39 patients treated with DOC+RAM, we identified 18 (46%) pre-ICI+ patients. Overall response rates for DOC+RAM concerning pre-ICI+ and pre-ICI- patients were 38.9% vs. 19.0%, respectively. Median progression-free survival (PFS) was 5.7 vs. 2.3 months [hazard ratio(HR)=0.36; 95% confidence interval (CI)=0.16-0.80]. Adverse events such as fever, myalgia, arthritis, pleural effusion, and pneumonitis tended to be increased in pre-ICI+ patients. Conclusion: Despite increased toxicity concerns, DOC+RAM therapy in pre-ICI+ patients showed a trend for tumor regression improvement and statistically significant prolongation of PFS.
MeSH term(s)	Aged ; Antibodies, Monoclonal/administration & dosage ; Antibodies, Monoclonal, Humanized ; Antineoplastic Agents, Immunological/administration & dosage ; Antineoplastic Combined Chemotherapy Protocols/adverse effects ; Antineoplastic Combined Chemotherapy Protocols/therapeutic use ; Biomarkers, Tumor ; Carcinoma, Non-Small-Cell Lung/diagnosis ; Carcinoma, Non-Small-Cell Lung/drug therapy ; Carcinoma, Non-Small-Cell Lung/immunology ; Carcinoma, Non-Small-Cell Lung/mortality ; Docetaxel/administration & dosage ; Drug Synergism ; Female ; Humans ; Immunomodulation/drug effects ; Lung Neoplasms/diagnosis ; Lung Neoplasms/drug therapy ; Lung Neoplasms/immunology ; Lung Neoplasms/mortality ; Male ; Middle Aged ; Neoplasm Staging ; Odds Ratio ; Proportional Hazards Models ; Retrospective Studies ; Treatment Outcome ; Ramucirumab
Chemical Substances	Antibodies, Monoclonal ; Antibodies, Monoclonal, Humanized ; Antineoplastic Agents, Immunological ; Biomarkers, Tumor ; Docetaxel (15H5577CQD)
Language	English
Publishing date	2019-09-10
Publishing country	Greece
Document type	Journal Article
ZDB-ID	604549-2
ISSN	1791-7530 ; 0250-7005
ISSN (online)	1791-7530
ISSN	0250-7005
DOI	10.21873/anticanres.13688
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Zs.A 1642: Show issues

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Article ; Online: Severe in utero under-virilization in a 46,XY patient with Silver-Russell syndrome with 11p15 loss of methylation.

Adachi, Masanori / Fukami, Maki / Kagami, Masayo / Sho, Noriko / Yamazaki, Yuichiro / Tanaka, Yukichi / Asakura, Yumi / Hanakawa, Junko / Muroya, Koji

Journal of pediatric endocrinology & metabolism : JPEM

2019 Volume 32, Issue 2, Page(s) 191–196

Abstract: Background Silver-Russell syndrome (SRS) is characterized by growth retardation and variable features including macrocephaly, body asymmetry, and genital manifestations such as cryptorchidism in 46,XY patients. Case presentation The patient was born at ... ...

Abstract	Background Silver-Russell syndrome (SRS) is characterized by growth retardation and variable features including macrocephaly, body asymmetry, and genital manifestations such as cryptorchidism in 46,XY patients. Case presentation The patient was born at 39 weeks with a birth weight of 1344 g. Subtle clitoromegaly warranted a thorough evaluation, which disclosed 46,XY karyotype, bilateral undescended testes, and a rudimentary uterus. Because of severe under-virilization, the patient was assigned as female. Failure to thrive, macrocephaly, and body asymmetry led to the diagnosis of SRS, confirmed by marked hypomethylation of H19/IGF2 intergenic differentially methylated region (IG-DMR). From age 9 years, progressive virilization occurred, which necessitated luteinizing hormone-releasing hormone analog (LHRHa) treatment. Gonadal resection at 15 years revealed immature testes with mostly Sertoli-cell-only tubules. Panel analysis for 46,XY-differences of sex development (DSD) failed to detect any pathogenic variants. Conclusions This is the second reported case of molecularly proven 46,XY SRS accompanied by severe under-virilization. SRS should be included in the differential diagnosis of 46,XY-DSD.
MeSH term(s)	Abnormalities, Multiple/classification ; Abnormalities, Multiple/genetics ; Chromosomes, Human, Pair 11 ; DNA Methylation ; Female ; Genitalia/abnormalities ; Genitalia/growth & development ; Gestational Age ; Humans ; Infant, Newborn ; Male ; Phenotype ; Pregnancy ; Prognosis ; Severity of Illness Index ; Silver-Russell Syndrome/genetics ; Silver-Russell Syndrome/pathology ; Virilism
Language	English
Publishing date	2019-01-24
Publishing country	Germany
Document type	Case Reports
ZDB-ID	1231070-0
ISSN	2191-0251 ; 0334-018X
ISSN (online)	2191-0251
ISSN	0334-018X
DOI	10.1515/jpem-2018-0464
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Zs.A 2258: Show issues

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Article: Classic Bartter syndrome complicated with profound growth hormone deficiency: a case report.

Adachi, Masanori / Tajima, Toshihiro / Muroya, Koji / Asakura, Yumi

Journal of medical case reports

2013 Volume 7, Page(s) 283

Abstract: Introduction: Classic Bartter syndrome is a salt-wasting tubulopathy caused by mutations in the CLCNKB (chloride channel Kb) gene. Although growth hormone deficiency has been suggested as a cause for persistent growth failure in patients with classic ... ...

Abstract	Introduction: Classic Bartter syndrome is a salt-wasting tubulopathy caused by mutations in the CLCNKB (chloride channel Kb) gene. Although growth hormone deficiency has been suggested as a cause for persistent growth failure in patients with classic Bartter syndrome, in our opinion the diagnoses of growth hormone deficiency has been unconvincing in some reports. Moreover, Gitelman syndrome seems to have been confused with Bartter syndrome in some cases in the literature. In the present work, we describe a new case with CLCNKB gene mutations and review the reported cases of classic Bartter syndrome associated with growth hormone deficiency. Case presentation: Our patient was a Japanese boy diagnosed as having classic Bartter syndrome at eight months of age. The diagnosis of Bartter syndrome was confirmed by CLCNKB gene analysis, which revealed compound heterozygous mutations with deletion of exons 1 to 3 (derived from his mother) and ΔL130 (derived from his father). His medical therapy consisted of potassium (K), sodium chloride, spironolactone, and anti-inflammatory agents; this regime was started at eight months of age. Our patient was very short (131.1cm, -4.9 standard deviation) at 14.3 years and showed profoundly impaired growth hormone responses to pharmacological stimulants: 0.15μg/L to insulin-induced hypoglycemia and 0.39μg/L to arginine. His growth response to growth hormone therapy was excellent. Conclusions: The present case strengthens the association between classic Bartter syndrome and growth hormone deficiency. We propose that growth hormone status should be considered while treating children with classic Bartter syndrome.
Language	English
Publishing date	2013-12-30
Publishing country	England
Document type	Journal Article
ZDB-ID	2269805-X
ISSN	1752-1947
ISSN	1752-1947
DOI	10.1186/1752-1947-7-283
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In stock of ZB MED Cologne/Königswinter

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In stock of ZB MED Cologne/Königswinter

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Order via subito

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In stock of ZB MED Cologne/Königswinter

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In stock of ZB MED Cologne/Königswinter

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More links

Kategorien

Order via subito