Challenges in Management of Ovotesticular Differences in Sex Development in Resource-Limited Settings.

Differences in sex development (DSD) are congenital conditions in which the development of chromosomal, gonadal, or anatomical sex is atypical. Ovotesticular DSD is the rarest variant of DSD where both ovarian and testicular tissues co-exist in an individual. Ambiguous genitalia may be a glaring indicator of DSD, but multiple genital anomalies should also raise a suspicion of DSD. This is a case report of a 15-year-6-month-old boy who presented during infancy with multiple genital anomalies requiring surgery. The diagnosis of ovotesticular DSD was missed until later in adolescence when he presented with progressive bilateral breast enlargement. Work-up revealed a 46, XX karyotype and dysgenetic testes, but functional ovarian tissue. The patient wanted to consider switching to a female gender but was constrained by psychosocial factors. Maintenance of a masculine phenotype was done using testosterone injections due to the relatively high cost of testosterone patches. Conclusion. Multiple genital anomalies should raise the suspicion of DSD, and prompt referral to an endocrinologist should be done before urogenital surgery and gender assignment are carried out.

Assessment of knowledge and socioeconomic status of caregivers of children with malnutrition at a district hospital in Ghana.

Background: Malnutrition is a significant public health problem and is a major cause of morbidity and mortality in children. Aims: To assess knowledge and socioeconomic status of caregivers of children under 5 years with malnutrition at a district hospital in Ghana. Methods: Case Report forms were used to gather data in a cross-sectional study which was carried out among 189 caregivers and their children aged from zero to fifty-nine months at the Out-Patient Department clinic. Results: Most (80.95%) children had marasmus. Sixty-two point four-two percent had severe wasting, while 35.45% had mild stunting. The rest, 21.69% had moderate stunting; while only 2.12% severe stunting. Almost all caregivers (94.71%) had heard of exclusive breast feeding as a good feeding practice but only 58.20% practiced it. Most caregivers (68.26%) had no education or only up to basic level, p=0.035. The average number of children per family was 4.8 per household (SD: 1.69) with majority of them (64.55%) having 4-6 children per family and 13.23% of them had more than 7 children per family, p=0.009. More than a third (37.04%) of the caregivers earned less than a hundred Ghana cedis (GhC 100 [US$ 19] per month and 50.26% of them earned between GhC 101 (US$ 19) and GhC 500 (US$ 96) per month. Conclusion: Lower level of caregivers' education and large family size were risk factors for developing malnutrition among children.

Spinal muscular atrophy in Ghanaian children confirmed by molecular genetic testing: a case series.

Spinal muscular atrophy (SMA) is an autosomal recessive inherited motor neuron disease characterized by progressive muscle weakness due to degeneration and loss of the anterior horn cells in the spinal cord and the brain stem nuclei from foetal life through infancy and childhood. SMA is prevalent in Ghanaian children, though not widely reported. Cases are likely missed or misdiagnosed due to lack of expertise and investigations. Newborn screening is not currently available in Ghana. The management remains supportive as newly approved genetic modifications therapies are currently not available. We present a retrospective folder review of children attending a tertiary pediatric neurology clinic who were diagnosed with SMA and confirmed by molecular genetic testing. Between January 2018 and August 2021, five (5) children from three families had molecular genetic tests confirming their diagnosis of SMA. Three (3) children had SMA I phenotype while 2 had SMA III phenotype. Two (2) of the 3 children with SMA I died from respiratory complications. The last surviving child with SMA I was diagnosed through newborn screening program overseas and received gene modification therapy. Careful history and physical examination remain the best approach to diagnosis as confirmatory genetic testing and supplemental investigations are not readily available. The current management of the children with SMA in Ghana include respiratory care, physiotherapy, and genetic counselling. Genetic modification therapies are currently not available.

SARS-COV-2 antibody responses to AZD1222 vaccination in West Africa.

Real-world data on vaccine-elicited neutralising antibody responses for two-dose AZD1222 in African populations are limited. We assessed baseline SARS-CoV-2 seroprevalence and levels of protective neutralizing antibodies prior to vaccination rollout using binding antibodies analysis coupled with pseudotyped virus neutralisation assays in two cohorts from West Africa: Nigerian healthcare workers (n = 140) and a Ghanaian community cohort (n = 527) pre and post vaccination. We found 44 and 28% of pre-vaccination participants showed IgG anti-N positivity, increasing to 59 and 39% respectively with anti-receptor binding domain (RBD) IgG-specific antibodies. Previous IgG anti-N positivity significantly increased post two-dose neutralizing antibody titres in both populations. Serological evidence of breakthrough infection was observed in 8/49 (16%). Neutralising antibodies were observed to wane in both populations, especially in anti-N negative participants with an observed waning rate of 20% highlighting the need for a combination of additional markers to characterise previous infection. We conclude that AZD1222 is immunogenic in two independent West African cohorts with high background seroprevalence and incidence of breakthrough infection in 2021. Waning titres post second dose indicates the need for booster dosing after AZD1222 in the African setting despite hybrid immunity from previous infection.

Pericardiectomy for constrictive pericarditis in a resource constraint setting.

INTRODUCTION: Constrictive pericarditis is the endpoint of the natural history of acute pericarditis of different aetiologies where a chronic inflammatory process results in a thickened, fibrotic and inelastic pericardium with consequent impairment of diastolic function and systemic congestion. AIM: To evaluate the clinical features, diagnosis, surgical management and outcome of patients with constrictive pericarditis as managed in a local setting of a tertiary hospital in Ghana. MATERIAL AND METHODS: A retrospective review of the medical records of patients who had undergone pericardiectomy for constrictive pericarditis at a teaching hospital. RESULTS: Ten patients underwent pericardiectomy for the period of study. There were 8 (80%) males and 2 (20%) females. The mean age was 20.4 ±17.2 years. Six of the patients 6 (60%) were in NYHA class III. Preoperative diagnostics included chest X-ray, echocardiography, and computed tomography scan. The surgical approach for the pericardiectomy was median sternotomy. The mean operative time was 159.9 ±43.0 min. The mean postoperative days spent before being discharged was 6.9 ±2.3 days. Nine (90%) of the patients were in NYHA class I after a mean follow-up of 19.3 ±16.7 months. One patient died 6 weeks after surgery with heart failure and one patient was lost to follow-up. CONCLUSIONS: Surgical pericardiectomy via median sternotomy is still the standard modality of treatment for constrictive pericarditis with excellent results even in resource constraint settings.

Timing of initiation of breastfeeding and its determinants at a tertiary hospital in Ghana: a cross-sectional study.

BACKGROUND: Early initiation of breastfeeding (EIBF), breastfeeding within first hour after birth, is known to have major benefits for both the mother and newborn. EIBF rates, however, tends to vary between and within countries. This study set out to determine the prevalence of EIBF at the Komfo Anokye Teaching Hospital (KATH), Kumasi, Ghana, and to evaluate the determinants of EIBF and time to initiation of breastfeeding. METHODS: A cross-sectional study was conducted at the KATH postnatal wards between August and October 2014. Three hundred and eighty-two mothers delivering at KATH were recruited and data on time to initiation of breastfeeding, antenatal, delivery and immediate postnatal periods were collected. Data analyses using both binary and ordinal logistic regressions with stepwise elimination were used to determine the relationship between EIBF and time to initiation of breastfeeding on one side, and the maternal, pregnancy, delivery and neonatal associated factors. RESULTS: EIBF was done in 39.4% (95%CI: 34.3-44.5) of the newborns with breastfeeding initiated between 1 to 6 h for 19.7%, 6 to 11 h in 4.8%, 11 to 16 h in 4.8% and after 16 h in 28.5% of the deliveries. A higher number of antenatal care visits (AOR = 1.14, 95%CI: 1.04-1.25, p = 0.006), delivery by caesarean section (AOR = 0.07, 95%CI: 0.01-0.79, p = 0.031) and infant rooming-in with mother (AOR: 31.67, 95%CI: 5.59-179.43, p <  0.001) were significantly and independently associated with EIBF. Factors independently associated with longer time to initiation of breastfeeding were older maternal age (AOR = 1.04, 95%CI: 1.00-1.09, p = 0.039), Akan ethnicity (AOR = 1.92, 95%CI: 1.14-3.22, p = 0.014), first-born child (AOR = 2.06, 95%CI: 1.18-3.58, p = 0.011), mother rooming-in with newborn (AOR = 0.01. 95%CI: 0.00-0.02, p <  0.001), increasing fifth minute APGAR score (AOR = 0.73, 95%CI: 0.58-0.93, p = 0.010) and using prelacteals (AOR = 2.42, 95%CI: 1.34-4.40, p = 0.004). CONCLUSIONS: The low EIBF rate and prolonged time to initiation of breastfeeding at a major tertiary health facility is a major concern. Key interventions will need to be implemented at KATH and possibly other tertiary healthcare facilities in Ghana and beyond to improve EIBF rate and time to breastfeeding.

Incidence of disorders of sexual development in neonates in Ghana: prospective study.

OBJECTIVE: The incidence of disorders of sexual development (DSD) is unknown in sub-Saharan Africa. We describe the characteristics and incidence of DSD in a cohort of infants born in Ghana. DESIGN: Trained research assistants performed systematic genital examination at birth. All infants with suspected abnormal genitalia were further examined by a paediatric endocrinologist. SETTING: Komfo Anokye Teaching Hospital, Kumasi, Ghana. PATIENTS: Consecutive infants born in a single centre over a 1-year period (May 2014 to April 2015). MAIN OUTCOME MEASURES: Incidence of DSD. Micropenis was defined as a stretched length <2.1 cm and clitoromegaly as a clitoral length >8.6 mm. RESULTS: We examined 9255 infants (93% of all live births) within 72 hours of birth. Twenty-six neonates had a DSD. Nineteen infants had DSD without genital ambiguity: isolated micropenis (n=2), hypospadias (n=7), cryptorchidism (n=4) and clitoromegaly (n=6). Seven infants had DSD with ambiguity: clitoromegaly with a uterus on ultrasound and elevated 17-hydoxyprogesterone, suggesting XX DSD due to congenital adrenal hyperplasia (CAH)(n=4) and micropenis, hypospadias and gonads in a bifid scrotum or in the inguinal region, consistent with XY DSD (n=3). CONCLUSION: The incidence of atypical genitalia was 28/10,000 (95% CI 17/10 000 to 39/10 000) live births. The incidence of CAH was 4.3/10 000 (95% CI 1.2/10 000 to 11.1/10 000) and was strongly associated with consanguinity.

Insights from the WHO and National Lists of Essential Medicines: Focus on Pediatric Diabetes Care in Africa.

BACKGROUND: Access to essential medicines in pediatric endocrinology and diabetes is limited in resource-limited countries. The World Health Organization (WHO) maintains two non-binding lists of essential medicines (EMLs) which are often used as a template for developing national EMLs. METHODS: We compared a previously published master list of medicines for pediatric endocrinology and diabetes with the WHO EMLs and national EMLs for countries within the WHO African region. To better understand actual access to medicines by patients, we focused on diabetes and surveyed pediatric endocrinologists from 5 countries and assessed availability and true cost for insulin and glucagon. RESULTS: Most medicines that are essential in pediatric endocrinology and diabetes were included in the national EMLs. However, essential medicines, such as fludrocortisone, were present in less than 30% of the national EMLs despite being recommended by the WHO. Pediatric endocrinologists from the 5 focus countries reported significant variation in terms of availability and public access to insulin, as well as differences between urban and rural areas. Except for Botswana, glucagon was rarely available. There was no significant relationship between Gross National Income and the number of medicines included in the national EMLs. CONCLUSIONS: Governments in resource-limited countries could take further steps to improve EMLs and access to medicines such as improved collaboration between health authorities, the pharmaceutical industry, patient groups, health professionals, and capacity-building programs such as Paediatric Endocrinology Training Centres for Africa.

Clinical profile of diabetes at diagnosis among children and adolescents at an endocrine clinic in Ghana.

AIM: To determine the clinical features of diabetes in children and adolescents in Ghana. METHODS: Retrospective review of clinical features of all children and adolescents with new-onset diabetes seen at the paediatric endocrinology clinic of Komfo Anokye Teaching Hospital in Kumasi, from February 2012 to Auguest 2016. RESULTS: One hundred and six subjects presented with diabetes. Ninety (84.9%) were diagnosed by clinical features and family history as type 1, and 16 (15.1%) type 2. For type 1 subjects, age range at diagnosis was 0.9-19.9 year (y), peak age of onset 12-13 year, and 3.3% were < 5 year, 21.1% 5- < 10 year, 45.6% 10- < 15 year and 30.0% 15- < 20 year. Seventy-one point one percent were female. Common clinical features were polyuria (100%), polydipsia (98.9%), and weight loss (82.2%). Mean BMI SD was -0.54, range -3.84 to 2.47. 60.0% presented in diabetic ketoacidosis (DKA). Nine had infections at onset (skin, abscess, leg ulcer). Mean ± SD HbA1c at diagnosis was 12.7% ± 1.9% (115 ± 21 mmol/mol). Four have since died: Hypoglycaemia (2), recurrent DKA (1), osteosarcoma (1). Two other type 1 cases died of DKA at presentation in emergency before being seen by the paediatric endocrinologist. Crude mortality rate including these 2 cases was 32.2/1000 patient years. Type 2 cases were 81% female, age of onset 9-19 year. Mean BMI SD was 1.49, range -0.87 to 2.61. Forty-three point eight percent presented in DKA. All type 2 cases had acanthosis nigricans. Overall, 9.8% did not have home refrigeration, most using clay pot evaporative cooling for insulin storage. CONCLUSION: Type 1 occurs with a female preponderance and high DKA rates. Type 2 also occurs. Typology based on clinical features is difficult. Community and professional awareness is warranted.

Anogenital Distance in Term Newborns in Kumasi, Ghana.

BACKGROUND: Anogenital distance (AGD) is a simple noninvasive measure of foetal androgen exposure. This study was done to generate normative data on AGD in Ghanaian newborns. METHODS: AGD was measured in 644 male and 612 female term newborns; including the distance between the anterior base of the penis and the centre of the anus, the posterior base of the penis and the centre of the anus, and the posterior base of the scrotum and the centre of the anus (ASD) in males and the distance from the anus to the fourchette (AF) and from the anus to the base of the clitoris in females. Other anthropometric and parental socio-demographic indices were also documented. RESULTS: AGD was sexually dimorphic; with a mean ± SD ASD and AF of 25.5 ± 5.1 and 13.6 ± 2.7 mm, respectively. There was a significant correlation between AGD and birth weight, birth length, and occipitofrontal circumference (p < 0.05). ASD was significantly longer (p < 0.001) in newborns (83/644; 12.9%) of mothers who had ingested herbs during pregnancy. CONCLUSION: AGD was approximately twice as long in males compared to females and can serve as a useful indicator of androgen exposure. Measurements of AGD also need to factor in anthropometric parameters, which are important correlates of AGD.

Clitoral size in term newborns in Kumasi, Ghana.

BACKGROUND: Data on normative clitoral sizes in newborns is relatively sparse and racial/ethnic differences have also been reported. This study was performed to establish norms for clitoral size in term Ghanaian female newborns. METHODS: This was a cross-sectional study of all apparently well full-term newborns of postnatal age < 48 h and birth weight between 2.5 and 4.0 kg delivered at Komfo Anokye Teaching Hospital between May and September, 2014. Anthropometric and genital parameters were documented for study subjects as well as parental socio-demographic indices. RESULTS: In 612 newborn females studied, the mean (±SD) clitoral length (MCL) and the mean (±SD) clitoral width (MCW) were 4.13 ± 1.6 mm and 4.21 ± 1.1 mm, respectively. MCL was inversely related to birth weight (r = -0.62; p < 0.001 ) while MCW was inversely related to both gestational age (r = -0.1; p = 0.02 ) and birth weight (r = -0.54; p < 0.001 ). Babies with a clitoris that was completely covered by the labia majora had relatively lower clitoral sizes (p < 0.001) than those who had a partially covered or prominent clitoris. Neither MCL nor MCW differed significantly by birth length or maternal tribe. CONCLUSIONS: Clitoral size varies with birth weight and gestational age. Babies with a completely covered clitoris are unlikely to warrant detailed clitoral measurements for clitoromegaly.

Normative penile anthropometry in term newborns in Kumasi, Ghana: a cross-sectional prospective study.

BACKGROUND: Genital measurements are a useful adjunct in the early detection of various endocrine conditions including hypopituitarism and disorders of sexual differentiation. Standards for genital sizes have been published but racial/ethnic differences exist. This study was done to establish norms for genital sizes in term Ghanaian male newborns. METHODS: This was a cross-sectional study of all apparently well full-term newborns of postnatal age < 48 h and birth weight between 2.5 and 4.0 kg delivered at Komfo Anokye Teaching Hospital within the study period. Anthropometric and genital parameters were documented for study subjects as well as parental socio-demographic indices. RESULTS: A total of 644 male newborns were recruited between May and September 2014. The mean penile length (MPL) was 3.3 ± 0.5 cm and the mean penile width (MPW) was 1.05 ± 0.1 cm. An inverse relationship was found between maternal age and MPL (correlation coefficient -0.062, 95% CI -0.121 to -0.002; p = 0.04). MPL was also significantly different (p = 0.04) by mode of delivery, with babies delivered by caesarean section having the lowest MPL. MPL correlated positively with both gestational age (p = 0.04) and birth length (p < 0.001), while MPW correlated proportionally with birth weight and length (p < 0.001 for both). CONCLUSIONS: Using the conventional definition of micropenis as stretched penile length (SPL) < 2.5 standard deviation (SD) below the mean and macropenis as an SPL > 2.5 SD, a Ghanaian term newborn may warrant investigation if he has an MPL < 2.1 cm or > 4.4 cm.

The outcome of a test-treat package versus routine outpatient care for Ghanaian children with fever: a pragmatic randomized control trial.

BACKGROUND: Over-diagnosis of malaria among African children results in mismanagement of non-malaria infections. Limited laboratory capacity makes it difficult to implement policies that recommend pre-treatment confirmation of infections so a new approach with a package for on-the-spot management of fevers was evaluated. METHODS: Febrile children presenting to outpatient clinic were randomized to receive either a 'test-treat' package (history with clinical examination; point-of-care tests; choice of artesunate-amodiaquine, co-amoxiclav and/or paracetamol) or routine outpatient care in a secondary health care facility in Kumasi, Ghana. A diagnosis of malaria, bacterial, viral or mixed malarial and bacterial infections was made using pre-defined criteria. Outcome was resolution of all symptoms including fever on day 7. RESULTS: The median age of the patients was 37.5 months (IQR: 19 to 66 months), with 56.7% being males. Compared to routine care the test-treat package resulted in less diagnoses of malaria, (37.2% vs 46.2%, p = 0.190) and mixed malaria and bacterial infections (14.0% vs 53.8%, p < 0.001) but more diagnoses of viral (33.1% vs 0.0%, p < 0.001) and bacterial infections only (15.7% vs 0.0%, p < 0.001). Less anti-malarials (51.2% vs 100.0%, p < 0.001) and antibiotics (29.7% vs 48.7%, p < 0.001), were prescribed in the test-treat group on completion of study, more test-treat package patients were clinically well (99.2% vs 80.7%, p < 0.001) and febrile (0.8% vs 10.1%, p = 0.001) and less were admitted for inpatient care (0.0% vs 8.4% p = 0.001) compared to the routine care group. CONCLUSION: Test-treat package improves the effectiveness of outpatient diagnosis and treatment of children with fever and reduces inappropriate prescribing of anti-malarials and antibiotics. The package provides clinicians with the option for immediate diagnosis and treatment of non-malaria fevers. The test-treat package now needs to be evaluated in other settings including primary health care facilities.

Abnormal blood glucose as a prognostic factor for adverse clinical outcome in children admitted to the paediatric emergency unit at komfo anokye teaching hospital, kumasi, ghana.

Dysglycaemia (hyper- or hypoglycaemia) in critically ill children has been associated with poor outcome. We compared the clinical outcomes in children admitted to Pediatric Emergency Unit (PEU) at Komfo Anokye Teaching Hospital (KATH) for acute medical conditions and presenting with euglycaemia or dysglycaemia. This is a prospective case matching cohort study. Eight hundred subjects aged between 3 and 144 months were screened out of whom 430 (215 with euglycaemia and 215 with dysglycaemia) were enrolled. The median age was 24 months (range: 3-144 months). In the dysglycaemia group, 28 (13%) subjects had hypoglycemia and 187 (87%) had hyperglycemia. Overall, there were 128 complications in 116 subjects. The number of subjects with complications was significantly higher in dysglycaemia group (n = 99, 46%) compared to euglycaemia group (n = 17, 8%) (P < 0.001). Forty subjects died out of whom 30 had dysglycaemia (P = 0.001). Subjects with dysglycaemia were 3 times (95% CI: 1.5-6.0) more likely to die and 4.8 times (95% CI: 3.1-7.5) more likely to develop complications (P = 0.001). Dysglycaemia is associated with increased morbidity and mortality in children with acute medical conditions and should lead to intensive management of the underlying condition.