Late Diagnosis of Turner Syndrome in Adulthood;a Case Study from the Endocrinology-Diabetology Nutrition Department of the National Hospital of Pikine Senegal

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.

Diabetes Ketoacidosis in Pregnancy: A Retrospective Study from the Teaching Hospital of Pikine

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.

Status Report on the Elimination of Mother-to-Child Transmission (EMCT) of HIV at the Pikine National Hospital Center (CHNP), Dakar/Senegal

Introduction: For several years, the fight against the human immunodeficiency virus (HIV) has been a major public health issue in Africa. Since 2012, Senegal has adopted WHO option B+, consisting of systematic triple therapy for HIV-positive pregnant women, combined with breastfeeding and antiretroviral (ARV) prophylaxis for exposed newborns. It is in this dynamic that we set ourselves the objectives of evaluating the rate of transmission of HIV from mother to child and taking stock of the monitoring of children born to HIV-positive mothers at the Pediatric Department of the CHN of Pikine located in the Dakar suburbs. Methodology: Thus, we conducted a descriptive and analytical cross-sectional cohort follow-up study from 11/25/2014 to 03/09/2022 including all children born to HIV-positive mothers followed at the Pikine CHN since the start of care. Results: We had collected 51 children exposed to HIV and followed in our structure. They were exposed to HIV1 in 92% of cases. The HIV status of the mothers was known before pregnancy in more than half of the cases. The couples were serodiscordant in 56% of cases. The mothers were in clinical stage 1 of the disease in 69.6% of cases and were already under treatment in 47% of cases. The most used treatment regimen was ATRIPLA with Tenofovir (TDF) + Emtracitabine (FTC) + Efavirenz (EFV) in 59% of cases. Compliance was good in the majority of cases. The CD4 count during pregnancy was low in 10.6% of cases. The pregnancy was well followed in only 36.2% of cases. The mothers had given birth in our structure in 91.4% of cases. The vaginal route was found in 72.5% of cases and delivery was carried out by a midwife in 69.4% of cases. The average birth weight was 2733 ± 564. The majority of newborns had received antiretroviral (ARV) prophylaxis after birth, half of them between 12 and 24 hours. The most used therapeutic protocol was Zidovudine (AZT) + Lamivudine (3TC) + Lopinavir/Ritonavir (LPV/r). Protected breastfeeding was the option chosen in 76.8% of cases. The PCR performed at 6 weeks was negative in more than half of the cases. Retroviral serology was carried out after 14 months in 43% of cases. We noted a single positive case with a negative initial PCR, representing an overall transmission rate of 1.96%. Conclusion: Senegal’s current policy targeting EMTCT of HIV is on good momentum with a fairly low transmission rate thanks to screening of pregnant women and prophylaxis with antiretrovirals (ARV) for HIV-positive mothers during pregnancy and for life. And children exposed from birth and during breastfeeding up to 6 weeks with regular monitoring.

Superior Mesenteric Artery Syndrome, a Rare Complication of Severe Malnutrition: Two Cases from a Subsaharian Endocrinology Department

Introduction: Superior mesenteric artery syndrome (SMAS), a rare diagnosis due to compression of the third duodenum between the superior mesenteric artery (SMA) and the aorta resulting in bowel obstruction, may lead to severe malnutrition. We report two cases of patients hospitalised in the Internal Medicine, Endocrinology, Diabetology, and Nutrition Department of the National Hospital Center (NHC) of Pikine. Observations: Patient 1: A 35-year-old female was referred for an aetiological diagnosis due to a rapid weight loss of 15 kilograms in one month, accompanied by persistent vomiting, following an appendectomy performed a month before admission. Upon clinical examination, she presented severe malnutrition (Buzby index of 76%), early post-prandial chronic vomiting, and a poor general condition. An abdominal CT scan revealed aortomesenteric clamp syndrome (AMCS) with an angulation between the aorta and the SMA of 13˚. The underlying cause in this patient was severe malnutrition. Fortunately, her condition improved with medical treatment. Patient 2: We report the case of a 30-year-old female hospitalized due to unusual weight-bearing post-prandial epigastric pain and intermittent vomiting over the past six months. Upon physical examination at admission, she exhibited severe malnutrition with a body mass index (BMI) of 14 kg/m2, a Buzby index of 71%, trophic disorders, and a stage IV general condition assessment according to the World Health Organization (WHO). An abdominal CT scan revealed AMCS with an angle between the aorta and the SMA of 22˚ and an aortomesenteric space of 4 mm. The outcome was poor with medical treatment failure and, unfortunately, the patient died before surgery. Conclusion: SMAS is rarely evoked in clinical practice despite the presence of contributing factors and suggestive clinical signs. The prognosis depends on management time.

Assessment of Five Years of Endoscopic Activity in a Maternity Hospital in the Suburbs of Dakar

Introduction: The practice of minimally invasive surgery in Senegal occupies more and more of a preponderant place in fields that previously did not allow it. Thus in our practice in gynecology we are witnessing an explosion of these operative indications especially for benign adnexal pathology. Patients and Method: The objective of this study was to evaluate the evolution of laparoscopic practice in terms of frequency, indication of duration and operative complications. For this reason, we have collected all the laparoscopic procedures carried out at the Gynecology and Obstetrics Department of the Pikine National Hospital since January 1st, 2012 over a period of 60 months. Endoscopic surgery accounted for 20.1% of all gynecological and breast procedures. There were 195 cases (14.9%) of laparoscopic surgery and 69 cases (5.2%) of operative hysteroscopy. The average age of our patients was 34 years with extremes of 15 and 67 years. The intervention was motivated by the exploration or management of infertility in 101 cases, or 57.1% of patients. Laparoscopy remained exploratory in 15.3% of cases (279 patients) with 55 cases of ovarian tumors presumed to be benign. The mean duration of diagnostic laparoscopy was 39 min with extremes of 20 to 150 min;while that of operative laparoscopy was 59 min with extremes of 20 to 250 min. It was noted that 4 cases of laparoconversion are 2.8% of all patients in our series. The postoperative course was 99.4% simple. Conclusion: In our practice and as in the developed countries, we are witnessing a considerable decline in the indications of laparotomy to the profile of laparoscopy, especially for benign adnexal pathology and infertility. An extension to the gynecological malignant pathology is the ultimate challenge.