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Thyroid function, glycemic control, and diabetic nephropathy in patients with type 2 diabetes over 24 months: prospective observational study

Iwakura, Hiroshi ; Takagi, Tomoyuki ; Inaba, Hidefumi ; [et al.]

Springer Science and Business Media LLC ; 2023

In: BMC Endocrine Disorders Vol. 23, No. 1 ( 2023-07-10)

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In: BMC Endocrine Disorders, Springer Science and Business Media LLC, Vol. 23, No. 1 ( 2023-07-10)

Abstract: The higher prevalence of thyroid dysfunction in type 1 diabetes patients has been well established, whereas it is a matter of debate whether that is also observed in type 2 diabetes patients. This study was conducted to reveal whether higher prevalence of thyroid dysfunction is observed in patients with type 2 diabetes. Methods We examined thyroid functions and thyroid autoantibodies in 200 patients with type 2 diabetes and 225 controls, with 24 months follow up for those with type 2 diabetes. Results Serum free triiodothyronine (fT3) levels and fT3/free thyroxine (fT4) ratio were significantly lower, while fT4 levels were significantly higher in patients with type 2 diabetes. The number of patients with thyroid dysfunction or patients positive for thyroid autoantibodies were not different between the two groups. The fT3/fT4 ratio was positively and negatively correlated with serum c-peptide and HbA1c levels, respectively, suggesting that the difference can be attributable to insulin resistance and diabetic control. In the follow-up observation, we found no significant correlation between basal thyrotropin (TSH), fT3, fT4 or fT3/fT4 ratio with the amounts of changes of HbA1c levels at 12 or 24 months after the basal measurements. There was a negative relationship between TSH levels and eGFR at baseline measurements, but TSH levels did not seem to predict future decline of eGFR levels. No relationship was observed between urine albumin/ g‧cre levels and thyroid function. Conclusion Thyroid dysfunction and thyroid autoantibodies were not different in prevalence between patients with type 2 diabetes and controls, although in patients with type 2 diabetes, the fT3/fT4 ratio was decreased. Basal thyroid function did not predict future diabetes control or renal function within 24 months of follow-up.

Type of Medium: Online Resource

ISSN: 1472-6823

URL: Article

DOI: 10.1186/s12902-023-01393-4

Language: English

Publisher: Springer Science and Business Media LLC

Publication Date: 2023

detail.hit.zdb_id: 2091323-0

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2

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A family in which people with a heterozygous ABCC8 gene mutation (p.Lys1385Gln) have progressed from hyperinsulinemic hypoglycemia to hyperglycemia

Karatojima, Mai ; Furuta, Hiroto ; Matsutani, Norihiko ; [et al.]

Wiley ; 2020

In: Journal of Diabetes Vol. 12, No. 1 ( 2020-01), p. 21-24

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In: Journal of Diabetes, Wiley, Vol. 12, No. 1 ( 2020-01), p. 21-24

Abstract: Highlights Inactivating mutations of the ABCC8 gene usually cause hyperinsulinemic hypoglycemia. We report a family in which people with the inactivating mutation have progressed hyperinsulinemic hypoglycemia to hyperglycemia. Treatment with incretin‐related drugs might be a useful therapeutic approach to hyperglycemia in people with the inactivating mutation.

Type of Medium: Online Resource

ISSN: 1753-0393 , 1753-0407

URL: Issue

URL: Article

DOI: 10.1111/jdb.v12.1

DOI: 10.1111/1753-0407.12990

Language: English

Publisher: Wiley

Publication Date: 2020

detail.hit.zdb_id: 2485432-3

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3

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Identification of a variant associated with early‐onset diabetes in the intron of the insulin gene with exome sequencing

Matsuno, Shohei ; Furuta, Hiroto ; Kosaka, Kitaro ; [et al.]

Wiley ; 2019

In: Journal of Diabetes Investigation Vol. 10, No. 4 ( 2019-07), p. 947-950

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In: Journal of Diabetes Investigation, Wiley, Vol. 10, No. 4 ( 2019-07), p. 947-950

Abstract: Whole‐exome sequencing is a new technology. We used it to explore the gene responsible for early‐onset diabetes as a result of impaired insulin secretion in a family. In the INS gene, we identified the heterozygous c.188‐31G 〉 A mutation in the proband – a 43‐year‐old woman. The mutation was also identified in her two daughters with diabetes, but not in her son or her parents, all of whom did not have diabetes. The substitution was located 31 bp proximal to exon 3 in intron 2. It was predicted to create an ectopic splice site leading to inserting 29 nucleotides of intron 2 as an exonic sequence in the transcript. The mutation has been reported in White families, and the present case is the first report in an Asian person. The present results would help in understanding the role of the mutation in developing diabetes.

Type of Medium: Online Resource

ISSN: 2040-1116 , 2040-1124

URL: Issue

URL: Article

DOI: 10.1111/jdi.2019.10.issue-4

DOI: 10.1111/jdi.12974

Language: English

Publisher: Wiley

Publication Date: 2019

detail.hit.zdb_id: 2542077-X

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Neonatal diabetes caused by the heterozygous Pro1198Leu mutation in the ABCC 8 gene in a male infant: 6‐year clinical course

Uraki, Shinsuke ; Furuta, Hiroto ; Miyawaki, Masakazu ; [et al.]

Wiley ; 2020

In: Journal of Diabetes Investigation Vol. 11, No. 2 ( 2020-03), p. 502-505

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In: Journal of Diabetes Investigation, Wiley, Vol. 11, No. 2 ( 2020-03), p. 502-505

Abstract: Neonatal diabetes is a rare disease, often caused by a monogenic abnormality. A male infant patient developed diabetic ketoacidosis at 2 months‐of‐age due to the heterozygous ABCC 8 gene mutation (p.Pro1198Leu). After genetic diagnosis, insulin therapy was successfully transitioned to oral sulfonylurea therapy. For 〉 6 years, oral sulfonylurea therapy has been safe and effective, and the required amount of sulfonylureas has progressively decreased. The mutation was transmitted in an autosomal‐dominant fashion across three generations of his family, but the severity of diabetes varied among members from neonatal diabetes to mild diabetes. One family member had normal glucose tolerance despite having the mutation. This case presentation could help in the understanding of neonatal diabetes caused by the ABCC 8 gene mutation.

Type of Medium: Online Resource

ISSN: 2040-1116 , 2040-1124

URL: Issue

URL: Article

DOI: 10.1111/jdi.v11.2

DOI: 10.1111/jdi.13127

Language: English

Publisher: Wiley

Publication Date: 2020

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5

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The influence of thyroid autoimmunity on pregnancy outcome in infertile women: a prospective study

Inagaki, Yuko ; Takeshima, Ken ; Nishi, Masahiro ; [et al.]

Japan Endocrine Society ; 2020

In: Endocrine Journal Vol. 67, No. 8 ( 2020), p. 859-868

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In: Endocrine Journal, Japan Endocrine Society, Vol. 67, No. 8 ( 2020), p. 859-868

Type of Medium: Online Resource

ISSN: 0918-8959 , 1348-4540

URL: Article

DOI: 10.1507/endocrj.EJ19-0604

Language: English

Publisher: Japan Endocrine Society

Publication Date: 2020

detail.hit.zdb_id: 2133773-1

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6

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Identification of a compound heterozygous inactivating ABCC 8 gene mutation responsible for young‐onset diabetes with exome sequencing

Matsutani, Norihiko ; Furuta, Hiroto ; Matsuno, Shohei ; [et al.]

Wiley ; 2020

In: Journal of Diabetes Investigation Vol. 11, No. 2 ( 2020-03), p. 333-336

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In: Journal of Diabetes Investigation, Wiley, Vol. 11, No. 2 ( 2020-03), p. 333-336

Abstract: Activating mutations in the ABCC 8 gene cause diabetes and inactivating mutations usually cause hyperinsulinemic hypoglycemia in infancy. Patients with hypoglycemia in infancy due to a heterozygous inactivating mutation have been reported to occasionally progress to diabetes later in life. We explored the gene responsible for diabetes in two brothers, who were suspected to have diabetes at 15 and 18 years‐of‐age, respectively, with whole exome sequencing, and identified a compound heterozygous ABCC 8 gene mutation (p.Arg168Cys and p.Arg1421Cys). Although their father and mother were heterozygous carriers of the p.Arg168Cys and the p.Arg1421Cys mutation, respectively, neither parent had diabetes. These mutations have been reported to be responsible for hypoglycemia in infancy and function as an inactivating mutation. Our results suggest that the inactivating ABCC 8 gene mutation is also important in the etiology of diabetes.

Type of Medium: Online Resource

ISSN: 2040-1116 , 2040-1124

URL: Issue

URL: Article

DOI: 10.1111/jdi.v11.2

DOI: 10.1111/jdi.13138

Language: English

Publisher: Wiley

Publication Date: 2020

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7

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Autosomal Dominant Hypocalcemia With Atypical Urine Findings Accompanied by Novel CaSR Gene Mutation and VitD Deficiency

Tsuji, Tomoya ; Hiroyuki, Ariyasu ; Uraki, Shinsuke ; [et al.]

The Endocrine Society ; 2021

In: Journal of the Endocrine Society Vol. 5, No. 3 ( 2021-03-01)

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In: Journal of the Endocrine Society, The Endocrine Society, Vol. 5, No. 3 ( 2021-03-01)

Abstract: Autosomal dominant hypocalcemia (ADH) is caused by gain-of-function mutations of the calcium sensing receptor (CaSR). It is characterized by hypercalciuria in spite of hypocalcemia. Vitamin D deficiency increases calcium reabsorption in the distal tubules of the kidneys, resulting in hypocalciuria. Materials and methods A 38-year-old female proband had hypocalcemia, hypocalciuria, and vitamin D deficiency. Her father and brother also had hypocalcemia, but her mother was normocalcemic. We analyzed the CaSR gene abnormality in this family. Polymerase chain reaction (PCR) and sequence analysis were performed to explore the CaSR gene mutation. Mutagenesis, transfection, and functional analysis were performed on the discovered genetic abnormalities. Result PCR and sequence analysis revealed that the proband, her father, and brother had a novel heterozygous mutation of the CaSR genes that causes threonine to asparagine substitution at codon 186 (T186N). Using HEK293 cells transfected with wild-type or T186N CaSR complementary DNA, we assessed the intracellular Ca2+ concentration in response to changes in the extracellular Ca2+ concentration. The cells transfected mutant CaSR gene had higher activity than that of wild-type. Therefore, we determined our patient had ADH with a novel mutation of the CaSR gene and hypocalciuria resulting from a vitamin D deficiency. We administered vitamin D to the proband, which caused elevation of her urinary calcium level, a typical finding of ADH. Conclusion Vitamin D deficiency was suggested to potentially mask hypercalciuria in ADH. Hypocalcemia with vitamin D deficiency should be diagnosed with care.

Type of Medium: Online Resource

ISSN: 2472-1972

URL: Article

DOI: 10.1210/jendso/bvaa190

Language: English

Publisher: The Endocrine Society

Publication Date: 2021

detail.hit.zdb_id: 2881023-5

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8

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Identification of a mutation associated with early-onset diabetes in the intron of INS gene with whole-exome sequencing

Furuta, Hiroto ; Matsuno, Shohei ; Doi, Asako ; [et al.]

Elsevier BV ; 2016

In: Diabetes Research and Clinical Practice Vol. 120 ( 2016-10), p. S50-

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In: Diabetes Research and Clinical Practice, Elsevier BV, Vol. 120 ( 2016-10), p. S50-

Type of Medium: Online Resource

ISSN: 0168-8227

URL: Article

DOI: 10.1016/S0168-8227(16)31020-8

Language: English

Publisher: Elsevier BV

Publication Date: 2016

detail.hit.zdb_id: 2004910-9

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9

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Expression of unfolded protein response markers in the pheochromocytoma with Waardenburg syndrome: a case report

Morita, Shuhei ; Takeshima, Ken ; Ariyasu, Hiroyuki ; [et al.]

Springer Science and Business Media LLC ; 2020

In: BMC Endocrine Disorders Vol. 20, No. 1 ( 2020-12)

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In: BMC Endocrine Disorders, Springer Science and Business Media LLC, Vol. 20, No. 1 ( 2020-12)

Abstract: It is clinically emergent to further understand the pathological mechanism to advance therapeutic strategy for endocrine tumors. A high amount of secretory protein with tumorigenic triggers are thought to induce unfolded protein response in endoplasmic reticulum in endocrine tumors, but its evidence is limited. Case presentation A 40-year-old woman had an approximately 10-year history of intermittent headaches. After the incidental detection of a mass in her right adrenal gland by CT scan, she was admitted to our hospital. She had been diagnosed as type 1 Waardenburg syndrome with the symptoms of dystopia canthorum, blue iris, and left sensorineural hearing loss. Urinary catecholamine levels were markedly elevated. 123 I-MIBG scintigraphy showed uptake in the mass in her adrenal gland. After the adrenalectomy, her headaches disappeared and urinary catecholamine levels decreased to normal range within 2 weeks. Genome sequencing revealed germline mutation of c.A175T (p.Ile59Phe) in transcription factor PAX3 gene and somatic novel mutation of c.1893_1898del (p. Asp631_Leu633delinsGlu) in proto-oncogene RET in her pheochromocytoma. RNA expression levels of RET were increased 139 times in her pheochromocytoma compared with her normal adrenal gland. Those of unfolded protein response markers, Bip/GRP78, CHOP, ATF4, and ATF6, were also increased in the pheochromocytoma. Conclusion We report a rare case of pheochromocytoma with type 1 Waardenburg syndrome. This is the first case to show the activation of unfolded protein response in the pheochromocytoma with the novel somatic mutation in RET gene. Our findings may support that unfolded protein response is activated in endocrine tumors, which potentially could be a candidate of therapeutic target.

Type of Medium: Online Resource

ISSN: 1472-6823

URL: Article

DOI: 10.1186/s12902-020-00574-9

Language: English

Publisher: Springer Science and Business Media LLC

Publication Date: 2020

detail.hit.zdb_id: 2091323-0

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