Caudal regression syndrome in a fetus of a glucokinase‐maturity‐onset diabetes of the young pregnancy

Taylor, Rebecca A; Mackie, Adam; Mogra, Ritu; Pinner, Jason; Rajendran, Saissan; Ross, Glynis P.

doi:10.1111/dme.13844

Cited by 9 publications

(5 citation statements)

References 12 publications

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“…a 30% risk increase per 1% (11 mmol/mol) increase in HbA 1c above 6.3% (45 mmol/mol), if one refers to data obtained in women with pregestational diabetes ( 2 ). One case of caudal regression syndrome was reported, and the potential benefit of systematic peri-conceptual folic acid supplementation in women with known GCK -MODY has been suggested (as actually recommended in the general population) ( 43 ). A pulmonary valve stenosis was reported in a child born to a GCK -MODY mother, whose early pregnancy HbA 1c was 6.5% (48 mmol/mol) ( 44 ).…”

Section: Risks Associated With Pregnancy In Women With Gck ...mentioning

confidence: 99%

Pregnancy in Women With Monogenic Diabetes due to Pathogenic Variants of the Glucokinase Gene: Lessons and Challenges

et al. 2022

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Heterozygous loss-of-function variants of the glucokinase (GCK) gene are responsible for a subtype of maturity-onset diabetes of the young (MODY). GCK-MODY is characterized by a mild hyperglycemia, mainly due to a higher blood glucose threshold for insulin secretion, and an up-regulated glucose counterregulation. GCK-MODY patients are asymptomatic, are not exposed to diabetes long-term complications, and do not require treatment. The diagnosis of GCK-MODY is made on the discovery of hyperglycemia by systematic screening, or by family screening. The situation is peculiar in GCK-MODY women during pregnancy for three reasons: 1. the degree of maternal hyperglycemia is sufficient to induce pregnancy adverse outcomes, as in pregestational or gestational diabetes; 2. the probability that a fetus inherits the maternal mutation is 50% and; 3. fetal insulin secretion is a major stimulus of fetal growth. Consequently, when the fetus has not inherited the maternal mutation, maternal hyperglycemia will trigger increased fetal insulin secretion and growth, with a high risk of macrosomia. By contrast, when the fetus has inherited the maternal mutation, its insulin secretion is set at the same threshold as the mother’s, and no fetal growth excess will occur. Thus, treatment of maternal hyperglycemia is necessary only in the former situation, and will lead to a risk of fetal growth restriction in the latter. It has been recommended that the management of diabetes in GCK-MODY pregnant women should be guided by assessment of fetal growth by serial ultrasounds, and institution of insulin therapy when the abdominal circumference is ≥ 75th percentile, considered as a surrogate for the fetal genotype. This strategy has not been validated in women with in GCK-MODY. Recently, the feasibility of non-invasive fetal genotyping has been demonstrated, that will improve the care of these women. Several challenges persist, including the identification of women with GCK-MODY before or early in pregnancy, and the modalities of insulin therapy. Yet, retrospective observational studies have shown that fetal genotype, not maternal treatment with insulin, is the main determinant of fetal growth and of the risk of macrosomia. Thus, further studies are needed to specify the management of GCK-MODY pregnant women during pregnancy.

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Section: Risks Associated With Pregnancy In Women With Gck ...mentioning

confidence: 99%

Pregnancy in Women With Monogenic Diabetes due to Pathogenic Variants of the Glucokinase Gene: Lessons and Challenges

et al. 2022

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“…Было принято решение о прерывании беременности. Признавая возможность «случайного» развития СКР, авторы отметили, что гипергликемия матери может повышать риски формирования врожденных пороков развития, в том числе СКР [44].…”

Section: Endocrinologyunclassified

Maturity-Onset Diabetes of the Young and the Structure of Gestational Diabetes Mellitus

Belyaeva¹,

Ovsyannikova²,

Rymar³

2021

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Objective of the Review: To systematise the information on MODY (Maturity-Onset Diabetes of the Young) during pregnancy. Key Points. MODY in pregnant patients should be distinguished from typical gestational diabetes mellitus, since these conditions require early pregnancy management. The article discusses combined criteria for differential diagnosis of types of diabetes mellitus in pregnancy and indications for molecular genetic testing. We describe clinical cases demonstrating the dependence of pregnancy outcomes on whether the foetus inherits the mutation or not. Also, the article describes the outlooks of non-invasive diagnosis of mutation status of the foetus and possible modification of therapy depending on the result. Conclusion. Diagnosis and therapy of MODY is a burning issue since there are no algorithms and the clinical experience is quite sparse. Keywords: MODY, gestational diabetes mellitus, GCK-MODY, HNF1A-MODY.

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“…Maternal diabetes mellitus can induce CRS. 1 CRS is complicated with neurodevelopmental disorders of vesico-rectal functions and the lower extremities. Of those, intractable urinary incontinence due to neurogenic intrinsic sphincter deficiency necessitates the life-long use of diapers, and, thus, a woman with CRS may have psychosocial problems in sexual intercourse ability.…”

Section: Introductionmentioning

confidence: 99%

“…Caudal regression syndrome (CRS) is a rare congenital malformation, which is characterized by abnormal development of the lower end of the spine. Maternal diabetes mellitus can induce CRS 1 . CRS is complicated with neurodevelopmental disorders of vesico‐rectal functions and the lower extremities.…”

Section: Introductionmentioning

confidence: 99%

Pregnancy in a patient with caudal regression syndrome following continent bladder reconstruction

Shigenobu

Nagayama

Manaka

et al. 2022

J of Obstet and Gynaecol

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Caudal regression syndrome (CRS) is rare congenital malformation, which is characterized by abnormal development of the lower end of the spine and complicated with neurodevelopmental disorders of vesicorectal functions and the lower extremities. We report the case of a woman with CRS who became pregnant and gave birth following continent bladder reconstruction (CBR) for intractable urinary incontinence. A 25-year-old primigravida woman with CRS became pregnant naturally and was referred to our department. She had undergone CBR in our institute at 14 years old. Emergency cesarean section (CS) was performed at 30 + 5 weeks of gestation due to severe preeclampsia. This is the first report of a woman with CRS who became pregnant and gave birth following CBR. A multidisciplinary team is needed to manage pregnant women with CRS following CBR. Collaboration with a urologist is especially important for managing pregnancy and performing CS. The CBR is performed for the purpose of improving quality of life by gaining urinary continence and may increase sexual behavior in women with CRS, and so obstetricians may encounter pregnancies more frequently in the future.

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Caudal regression syndrome in a fetus of a glucokinase‐maturity‐onset diabetes of the young pregnancy

Cited by 9 publications

References 12 publications

Pregnancy in Women With Monogenic Diabetes due to Pathogenic Variants of the Glucokinase Gene: Lessons and Challenges

Pregnancy in Women With Monogenic Diabetes due to Pathogenic Variants of the Glucokinase Gene: Lessons and Challenges

Maturity-Onset Diabetes of the Young and the Structure of Gestational Diabetes Mellitus

Pregnancy in a patient with caudal regression syndrome following continent bladder reconstruction

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