ABSTRACT
Background. 'Maturity-Onset Diabetes of the Young' (MODY) or monogenic diabetes accounts for approximately 1-2% of diabetes and is frequently misdiagnosed as type 1 or type 2 diabetes. Here we report a case of a 19-year-old pregnant woman with a MODY 3 diabetes expecting a child to a father with MODY 2 diabetes. Possible inheritance scenarios are described and the implications of these scenarios on the pregnancy and infant are discussed. In addition, the pregnancy was complicated by drastically falling insulin requirements in the mother in the 3rd trimester as well as preterm labour and delivery at 33+4 weeks of gestation.
ABSTRACT
Vitamin D status and associated metabolism during pregnancy and lactation have been assessed in only a limited number of longitudinal studies, all from the northern hemisphere, with no infant data concurrently reported. Therefore, we aimed to describe longitudinal maternal and infant 25-hydroxy vitamin D (25OHD) and parathyroid hormone (PTH) status during pregnancy and up to 5 months postnatal age, in New Zealand women and their infants living at 45° S latitude. Between September 2011 and June 2013, 126 pregnant women intending to exclusively breastfeed for at least 20 weeks were recruited. Longitudinal data were collected at three time-points spanning pregnancy, and following birth and at 20 weeks postpartum. Vitamin D deficiency (25OHD < 50 nmol/L) was common, found at one or more time-points in 65% and 76% of mothers and their infants, respectively. Mean cord 25OHD was 41 nmol/L, and three infants exhibited secondary hyperparathyroidism by postnatal week 20. Maternal late pregnancy 25OHD (gestation 32-38 weeks) was closely correlated with infant cord 25OHD, r² = 0.87 (95% CI (Confidence interval) 0.8-0.91), while no correlation was seen between early pregnancy (<20 weeks gestation) maternal and cord 25OHD, r² = 0.06 (95% CI -0.16-0.28). Among other variables, pregnancy 25OHD status, and therefore infant status at birth, were influenced by season of conception. In conclusion, vitamin D deficiency in women and their infants is very common during pregnancy and lactation in New Zealand at 45° S. These data raise questions regarding the applicability of current pregnancy and lactation policy at this latitude, particularly recommendations relating to first trimester maternal vitamin D screening and targeted supplementation for those "at risk".
Subject(s)
Lactation , Parathyroid Hormone/blood , Pregnancy/blood , Vitamin D/analogs & derivatives , Diet , Dietary Supplements , Dose-Response Relationship, Drug , Female , Humans , Infant , Longitudinal Studies , Mothers , New Zealand , Postpartum Period/blood , Postpartum Period/drug effects , Seasons , Vitamin D/blood , Vitamin D Deficiency/blood , Vitamin D Deficiency/diagnosisABSTRACT
The term "Maturity-Onset Diabetes of the Young" (MODY) was first described in 1976 and is currently referred to as monogenic diabetes. There are 14 known entities accounting for 1-2% of diabetes and they are frequently misdiagnosed as either type 1 or type 2 diabetes. MODY-5 is an entity of monogenic diabetes that is associated with genitourinary malformations and should be considered by obstetricians in pregnant women with a screen positive for diabetes, genitourinary malformations, and fetal renal anomalies. Correct diagnosis of monogenic diabetes has implications on managing patients and their families. We are reporting a case of a 21-year-old pregnant woman with a bicornuate uterus, fetal renal anomalies, and a family history of diabetes that were suggestive of a MODY-5 diabetes.
Subject(s)
Fetal Diseases/drug therapy , Fetal Therapies , Goiter/drug therapy , Hypothyroidism/drug therapy , Pregnancy Complications , Thyrotoxicosis , Triiodothyronine/therapeutic use , Antithyroid Agents/therapeutic use , Carbimazole/therapeutic use , Female , Fetal Diseases/diagnosis , Fetal Diseases/etiology , Goiter/diagnosis , Goiter/etiology , Graves Disease , Humans , Hypothyroidism/diagnosis , Hypothyroidism/etiology , Infant, Newborn , Male , Pregnancy , Pregnancy Complications/diagnosis , Pregnancy Complications/drug therapy , Thyrotoxicosis/diagnosis , Thyrotoxicosis/drug therapy , Thyrotoxicosis/etiologyABSTRACT
OBJECTIVE: The purpose of this study was to review the outcome of conservatively managed cervical intraepithelial neoplasia (CIN) 2 in women <25 years old. STUDY DESIGN: This was a retrospective review that included women who were <25 years old with biopsy proven CIN2 between 2005 and 2009. Analysis was performed that compared women who had immediate treatment with women whose treatment was deferred >4 months. The primary outcome measure was spontaneous regression of CIN2. Secondary outcomes were treatment rates and loss to follow-up evaluation. RESULTS: Of the 452 women who were identified, 256 women (57%) received immediate treatment; 157 women (35%) met the definition for conservative management, and 39 women (9%) had unknown subsequent management. Of the 157 women who were managed conservatively, 98 women (62%) showed spontaneous regression, with a median of 8 months observation. No conservatively managed women progressed to cancer. CONCLUSION: Based on the 62% regression rate in this study, routine treatment may not be necessary for all women with CIN2 who are <25 years old.
