Introduction: Turner syndrome is a rare genetic disorder characterised by the presence of one X chromosome and the absence of part or all of an X or Y chromosome and patients may experience delayed puberty and inferti...Introduction: Turner syndrome is a rare genetic disorder characterised by the presence of one X chromosome and the absence of part or all of an X or Y chromosome and patients may experience delayed puberty and infertility. Our study aimed to evaluate the diagnostic delay in our practice and analyze the impact of this diagnostic delay on the effectiveness of patient management. Patients and Methods: Turner syndrome patients were identified from the endocrinology-diabetology nutrition department Database We examined the records of patients in whom the karyotype analysis favoured Turner syndrome. Results: We have selected 5 patients’ records of female patients with Turner syndrome. The mean age was 25, ranging from 19 to 29 years. Primary amenorrhea and characteristic dysmorphic features were observed in all patients. One married patient, who sought consultation for infertility, expressed a desire for pregnancy. Short stature was identified in 3 patients. Primary hypothyroidism and hypertension were respectively found in 1 and 2 patients. Gonadal dysgenesis was noted in 100% of cases. Karyotype analysis revealed monosomy X in 2 patients and mosaic patterns in others. All patients received estrogen-progestin treatment. Antihypertensive therapy was initiated for 2 patients. One patient is on L-thyroxine. In the short term, treatment led to the onset of menstruation after the initial months. Evaluation of treatment efficacy on internal genital organs is yet to be performed. Due to uncertain benefits at this age, growth hormone therapy was not considered for our patients. We provided counseling on assisted reproductive options for couples desiring to conceive. In our study, all patients were placed on estrogen-progestin therapy, and the response appeared favorable. Conclusion: In our practice, the diagnosis of Turner syndrome occurs very late in adulthood, at an age when growth hormone treatment is nearly ineffective. Treatment typically revolves around estrogen-progestin therapy, along with managing other comorbidities such as hypertension and primary hypothyroidism.展开更多
Introduction: Diabetic ketoacidosis (DKA) in pregnancy is rare but associated with maternal and foetal morbidity and mortality. The objectives of this study were to evaluate the epidemiological, diagnostic, and progno...Introduction: Diabetic ketoacidosis (DKA) in pregnancy is rare but associated with maternal and foetal morbidity and mortality. The objectives of this study were to evaluate the epidemiological, diagnostic, and prognostic characteristics of DKA in pregnant women in Dakar hospitals and to study the predictive factors of its occurrence. Methods: This retrospective study was conducted from January 2013 to January 2021 in the Internal Medicine/ Endocrinology-Diabetology-Nutrition and Gynaecology-Obstetrics departments of the National University Hospital Centre in Pikine, Senegal. Medical files of all pregnant women hospitalised for DKA during this period were collected. Results: A total of 10 patients were included in the study. Average age was 30.9 years. Two patients with unplanned pregnancies had pre-gestational diabetes mellitus (pre-GDM) and did not have regular diabetic follow-up. Among the 8 patients with GDM, risk factors for GDM were found in 7 women, and three had a history of GDM. Blood glucose levels were >1.02 and >11 g/L for these two groups, respectively. None of the women had been systematically screened for GDM between 24 and 28 gestational weeks. Signs of ketosis were present: 6 patients had Kussmaul dyspnea and one patient had a Glasgow Coma Score of 10/15. The precipitating factor was infection in three patients. Two patients had pre-eclampsia. The evolution of DKA was favourable in all patients. For pregnancy outcomes: 4 cases of intrauterine foetal death were recorded, 2 women carried their pregnancy to term, a woman gives birth prematurely and 3 patients were lost to follow-up. Conclusion: DKA during pregnancy is rare in Dakar hospitals but health risk increases with the lack of screening for GDM in pregnant women, follow-up in a specialised environment, and pregnancy planning in diabetic patients. The obstetrical prognosis is poor for GDM patients, with a high rate of foetal death in utero.展开更多
文摘Introduction: Turner syndrome is a rare genetic disorder characterised by the presence of one X chromosome and the absence of part or all of an X or Y chromosome and patients may experience delayed puberty and infertility. Our study aimed to evaluate the diagnostic delay in our practice and analyze the impact of this diagnostic delay on the effectiveness of patient management. Patients and Methods: Turner syndrome patients were identified from the endocrinology-diabetology nutrition department Database We examined the records of patients in whom the karyotype analysis favoured Turner syndrome. Results: We have selected 5 patients’ records of female patients with Turner syndrome. The mean age was 25, ranging from 19 to 29 years. Primary amenorrhea and characteristic dysmorphic features were observed in all patients. One married patient, who sought consultation for infertility, expressed a desire for pregnancy. Short stature was identified in 3 patients. Primary hypothyroidism and hypertension were respectively found in 1 and 2 patients. Gonadal dysgenesis was noted in 100% of cases. Karyotype analysis revealed monosomy X in 2 patients and mosaic patterns in others. All patients received estrogen-progestin treatment. Antihypertensive therapy was initiated for 2 patients. One patient is on L-thyroxine. In the short term, treatment led to the onset of menstruation after the initial months. Evaluation of treatment efficacy on internal genital organs is yet to be performed. Due to uncertain benefits at this age, growth hormone therapy was not considered for our patients. We provided counseling on assisted reproductive options for couples desiring to conceive. In our study, all patients were placed on estrogen-progestin therapy, and the response appeared favorable. Conclusion: In our practice, the diagnosis of Turner syndrome occurs very late in adulthood, at an age when growth hormone treatment is nearly ineffective. Treatment typically revolves around estrogen-progestin therapy, along with managing other comorbidities such as hypertension and primary hypothyroidism.
文摘Introduction: Diabetic ketoacidosis (DKA) in pregnancy is rare but associated with maternal and foetal morbidity and mortality. The objectives of this study were to evaluate the epidemiological, diagnostic, and prognostic characteristics of DKA in pregnant women in Dakar hospitals and to study the predictive factors of its occurrence. Methods: This retrospective study was conducted from January 2013 to January 2021 in the Internal Medicine/ Endocrinology-Diabetology-Nutrition and Gynaecology-Obstetrics departments of the National University Hospital Centre in Pikine, Senegal. Medical files of all pregnant women hospitalised for DKA during this period were collected. Results: A total of 10 patients were included in the study. Average age was 30.9 years. Two patients with unplanned pregnancies had pre-gestational diabetes mellitus (pre-GDM) and did not have regular diabetic follow-up. Among the 8 patients with GDM, risk factors for GDM were found in 7 women, and three had a history of GDM. Blood glucose levels were >1.02 and >11 g/L for these two groups, respectively. None of the women had been systematically screened for GDM between 24 and 28 gestational weeks. Signs of ketosis were present: 6 patients had Kussmaul dyspnea and one patient had a Glasgow Coma Score of 10/15. The precipitating factor was infection in three patients. Two patients had pre-eclampsia. The evolution of DKA was favourable in all patients. For pregnancy outcomes: 4 cases of intrauterine foetal death were recorded, 2 women carried their pregnancy to term, a woman gives birth prematurely and 3 patients were lost to follow-up. Conclusion: DKA during pregnancy is rare in Dakar hospitals but health risk increases with the lack of screening for GDM in pregnant women, follow-up in a specialised environment, and pregnancy planning in diabetic patients. The obstetrical prognosis is poor for GDM patients, with a high rate of foetal death in utero.
