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.

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.

Corticosteroid-Induced Adrenal Insufficiency in Africa: Report of Nine Cases at the Internal Medicine/Endocrinology-Diabetology Department of Pikine NHC

Introduction: Prolonged corticosteroid therapy is labeled as the main cause of corticotropic adrenal insufficiency. However, the current frequency of this complication remains unknown. The objective of our study was to assess its epidemiologic, diagnostic, therapeutic, and evolutionary aspects of our practice. Methodology: A 60-month retrospective study was performed from May 2014 to April 2020 in the Pikine National Hospital Centre. Data were obtained from the medical records of patients with corticosteroid-induced adrenal insufficiency. Epidemiologic, diagnostic, therapeutic, and evolutionary parameters, and data related to corticotherapy were recorded. Patients with basal plasma cortisol levels <50 ng/ml or a plasma cortisol level less than double of the basal cortisolaemia one H after administration of synachtene 250 were included. Results: Medical records were obtained from nine patients, comprising six women and three men. The mean age of the patients was 48 years. Long-term corticosteroid therapy was used for self-medication in six patients and artificial bleaching in the remaining three patients. Betamethasone was the most commonly used drug in four patients, followed by clobetasol in three patients. Corticotropic insufficiency was revealed as a result of acute decompensation in five patients. All patients presented with a pseudo-cushingoid pattern. Diagnosis of corticotropic adrenal insufficiency was confirmed by measuring basal plasma cortisol levels of <50 ng/ml in seven patients. A standard Synachtene test was performed on two patients. All patients benefited from hydrocortisone supplementation. In the short-term, the outcome was unremarkable for all patients. Medium and long-term progression could be assessed in only three patients. Two patients showed persistent suppression with a 6- and 9-month follow-up. One patient was readmitted after one month due to an adrenal crisis following voluntary discontinuation of hydrocortisone treatment. Conclusion: Post-corticosteroid therapy adrenal insufficiency remains a concern in our practice and is favoured by the non-compliance of providing rules by pharmacies and the parallel drug market.

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.

Diagnosis of Male Hypogonadism: Experience of a Subsaharan African Endocrinology Department: Transversal Study from January 1st, 2020 to July 31st, 2022

Introduction: Hypogonadism should be suspected in a man who has symptoms and signs of testosterone deficiency. Clinical manifestations depend on the severity and duration of testosterone deficiency, whether the testicular deficit is concerning only androgen synthesis, spermatogenesis, or both. The objective of our study was to evaluate the clinical and aetiological characteristics of male hypogonadism in Dakar’s suburb. Patients and methods: We conducted a transversal study from January 1st, 2020 to July 31st, 2022. We included all male patients aged at least 14 years old with hypogonadism confirmed by a low level of early-morning free testosterone based on two different dosages. For all patients included, sociodemographic and diagnostic parameters were collected by using a pre-established registration form. Results: In total, 20 patients were selected. The average age was 36.3 years old [14 - 62 years old]. Half of the patients were overweight. Five patients had an abdominal circumference greater than 94 cm (37 inches). The other comorbidities found in our patients were type 2 diabetes (n = 1), hypertension (n = 1) and primary hypercholesterolemia in 2 patients. The functional signs reported by the patients were: couple’s infertility in 17 patients, decreased libido in 14 patients, erectile dysfunction in 13 patients, premature ejaculation in 2 patients and anejaculation in 4 patients. The physical examination revealed a bilateral testicular atrophy in 17 patients and a unilateral testicular atrophy in 2 patients;no patient had varicocele or urethral meatus abnormalities. Ten patients presented a micropenis. A eunuchoid morphotype was present in 6 patients and a short stature was noted in 2 patients. It was peripheral hypogonadism (HH) in 18 patients and hypogonadotropic hypogonadism (Hh) in 2 patients. The hypogonadotropic hypogonadism was isolated in both cases. The testicular echography confirmed testicular atrophy and showed cryptorchidism in 5 patients. The pituitary MRI performed in 2 patients with Hh showed an aspect of empty sella turcica in one patient and was normal in the second patient. Conclusion: In our practice, the diagnosis of male hypogonadism is most often made in adulthood. The most usual clinical presentation is failure of pubertal sexual development associated or not with a eunuchoid morphotype. The anomalies of spermatogenesis are found in most patients. Infertility is the primary motive for consultation.

Screening of Peripheral Artery Disease by Systematic Measurement of Ankle-Brachial Index among Diabetic Patients in Dakar

Introduction: The peripheral artery disease (PAD) is one of the chronic and frightening vascular complications of the diabetes whose tracking can be done by the Ankle-Brachial Index (ABI) measurement. We conducted in this context a study which consisted in measuring the ABI among hospitalized diabetic patients at Teaching Hospital of Pikine in Dakar, over 18 months’ duration. The aim was to determine the prevalence and evaluate factors correlated to the presence of the PAD. Patients and Method: This cross-sectional descriptive study interested the whole of diabetic patients hospitalized in Internal Medicine/Endocrinology Department, from January 2013 to June 2014. We carried out a complete clinical examination associated with ABI measurement by a Doppler probe for each included patient after having collected the clinical and paraclinical data. Results: Our population of study comprised 209 diabetic patients with a female predominance (126, 60.3%). The sex-ratio man/woman was 0.6. The median age of the population of study was 54 ± 2 years. In our series, 157 (75.1%) patients discovered their diabetes with the waning of an affection while the 52 (24.9%) other patients discovered their diabetes at the time of a systematic assessment. The PAD appeared by an intermittent claudication among 38 patients (18.2%). The ABI was normal for 126 patients (60.3%). The ABI was low for 51 patients (24.4%), unilateral in 3.8% of cases and bilateral in 20.6% of cases. The ABI was high among 32 patients (15.3%), unilateral in 7.2% of cases and bilateral in 8.1% of cases. The ABI extremes values were 0.11 and 2. In the population of study, 46 patients (22%) had a well-compensated PAD. The PAD was low compensated for 3 patients (1.4%) and severe for 2 patients (1%). The ABI was more frequent and significantly among women than men, with 32 cases (25.4%) against 19 (22.9%) cases (p = 0.021). The proportion of low ABI was more important among patients whose diabetes had evolved for more than 5 years (42.3% of cases) with a peak of frequency in the duration of 6 - 10 years (47.7% of cases). Conclusion: The PAD global prevalence among hospitalized diabetic patients appeared high with 24.4% patients presenting low ABI. Its early diagnosis among subjects at risk as for our study population allowed identifying asymptomatic subjects having another cardiovascular damage. Thus, the screening of obstructive arteriopathy of lower limb PAD by the measurement of ABI should be applied to all diabetic patients for a better assessment of atherosclerotic complication.

Severity of the Rheumatoid Arthritis in Sub-Saharan Africa:Study of 403 Senegalese Observations

Introduction: We assess the severity of the rheumatoid arthritis in a Senegalese African black population. Patients and methods: It is a retrospective study achieved in the service of Internal Medicine of Aristide Le Dantec teaching hospital of Dakar between January 2005 and December 2016 in patients suffering from rheumatoid arthritis. We specified for every patient the predictive data of severity of the rheumatoid arthritis. Results: Four hundred and three patients have been gathered (39 men and 364 women), with the mean age of 45.8 years. An active tobacco addiction was noticed in 10 patients. The diagnostic delay was on average of 72 months. Characteristic articular deformations were noticed in 215 patients (53.3%). They were correlated to male (p = 0.038), to age (p = 0.001) and to the activity of the rheumatoid arthritis (p = 0.0445). Systemic manifestations have been observed in 213 cases (52.9%), particularly anemia (50.8%). They were correlated to the anti-CCP antibodies (p = 0.047). The ESR was increased at the first hour in 84.4% of cases (median: 43 mm;extreme: 1and 160). CRP was elevated in 63.71% of cases (median of 12 mg/l;extreme: 1 and 384). The rheumatoid factor was positive in 57.6% of the cases. The anti-CCP antibodies were present in 89.2% of the cases. Articular erosions were objectified in all cases. A DAS 28 superior to 5.1 was noticed in 71% of cases. Conclusion: The rheumatoid arthritis was severe in our study.

Management of Multiple Endocrine Neoplasia Type 2A (MEN 2A): Diagnostic and Therapeutic Concerns with the First Documented Senegalese Family

Introduction: Multiple endocrine neoplasia (MEN) type 2A is a multiglandular tumor condition inherited in an autosomal dominant manner. It is related to proto-oncogene RET mutation whose analysis is the best technique for family screening. It features in a variable way medullary thyroid cancer (MTC), primary hyperparathyroidism (HPT) and pheochromocytoma. The revealing manifestations of these tumors are often neglected for a long time and the screening should be systematic particularly in a known family context. Methods: After a family tree establishment of a MEN 2A index case, a family survey allowed to diagnose other cases in the family by means of biological, radiological and/or genetic examinations. Results: We report a family form of MEN 2A in a family of three households. In this family 13 people (index case included) were probed out of 34 members. The average age of our patients was 43.54. The sex ratio men/women was 0.85. The simultaneous diagnosis of a primary HPT and a MTC was carried out in our index case and constituted the circumstance of discovery of MEN 2A. The time limit of MEN 2A diagnosis on the other family members was on average 7.7 years. A MTC was recorded in 7 patients. It was asymptomatic in overall cases. A pheochromocytoma was present in only one patient. Primary HPT was found in four patients. Renal lithiasis with recurrent unilateral or bilateral nephritic colic attacks was the main manifestation. Besides the index case, 11 patients had a genetic testing. In 7 patients, a mutation on proto-oncogene RET located on the codon 634 was noted. A surgical care was carried out on 6 patients. We recorded three patients lost to follow-up. A patient died before surgery. In the index case, biological and radiological monitoring found a locoregional residual disease that indicated surgical revision and radiotherapy. Prophylactic thyroidectomy was not performed in any case driven by lack of compliance and/or low income. Conclusion: The discovery of a MEN 2A case imposes genetic survey allowing the screening of other cases in the family and the establishment of a preventive strategy.

Unusual Causes of Adenopathy in a Tropical Environment: About 3 Observations

Introduction: The discovery of peripheral lymphadenopathy is a frequent reason for consultation and hospitalization in Internal Medicine. The aim of this article is to review through three cases the etiologies of chronic lymphadenopathy rarely reported in a tropical environment. Observations: The first patient is a 62-year-old man who has been infected with HIV-1 for 14 years and who had a multicenter form of Castleman disease. The diagnosis was confirmed after 3 histological lymph nodes. The progression was favorable under Etoposide-based chemotherapy. The second observation is about a 38-year-old woman with a 2-month chronic febrile adenopathy without improvement after anti-tuberculosis treatment. The diagnosis of Kikuchi Fujimoto disease, in its necrotizing form, was confirmed in histology. The evolution was made favorable by the corticosteroid therapy. The third observation is about a 63-year-old woman with an enlargement of groups of lymph nodes, liver, and spleen. This tumoral syndrome was associated to an exudative ascites and a Systemic Inflammatory Response Syndrome (SIRS). The initial diagnosis was a multifocal tuberculosis based on a set of evidence (exudative lymphocytic ascites, epidemiological context and a positive Quantiferon TB test). The first ganglionic histology was not contributory. It was the second ganglionic histology that indicated the diagnosis of lymph node plasmocytoma revealing a myeloma. The patient died of septic shock. Conclusion: In tropical environment, the etiologies of chronic lymphadenopathy are not limited to tuberculosis and malignant haemopathies. Carrying out ganglionic histology is an absolute necessity.

Assessment of the Podiatric Risk on Diabetics in Dakar Hospital Area: Cross-Sectional Study in Regard to 142 Patients

The prevention of diabetic foot goes through a systematic podiatric assessment of diabetic patients permitting to identify the foot at risk. Then, we realized a study in the Internal Medicine Department at Pikine Teaching Hospital in Dakar with the assessment of foot risk on admitted diabetic patients as our main objective. Methods: It was about a prospective cross-sectional, descriptive and analytic study done on 18 months period. Results: Overall, 142 patients were gathered. The average age was 56.22 years and the sex-ratio was 0.67. 87.2% of the patients were running type 2 diabetes. The capillary blood glucose and glycated hemoglobin were respectively around 3.24 g/L and 9%. High Blood Pressure was found in 62% of cases. The type of footwear most used by our patients was sandals (96.3%). Also, 30.6% of patients walked barefoot. Prior ulceration and/or amputation were noted in 30% of cases. During the foot examination, a lesion was found in 15.5% of patients. Loss of monofilament sensitivity was about 66.7%. The Ankle-Brachial Index (ABI) less than 0.9 was recorded in 34% of patients and at least a quarter of patients were posteriorly tibial pulselessness. The gradation of the foot risk according to the International Working Group of the Diabetic Foot (IWGDF) was established as follow: grade 0 (58%), grade 1 (9.8%), grade 2 (14.3%), grade 3 (17.3%). The presence of neuropathy (OR 12. 162 [3.368 - 43.923];p = 0.000), plantar keratosis (OR 2.87 [1.119 - 7.399];p = 0.024) and the absence of pulse perception (OR 9.00 [3.205 - 25.414];p = 0.000) were significant associated factors of foot injury occurrence on our patients. Conclusion: The prevention of diabetic foot in emerging countries is accessible by a systematic clinical examination of all diabetic feet and the awareness of adapted footwear.