Congenital Adrenal Hyperplasia: Diagnostic Features in a Limited Resource Country, Senegal

Niang, Babacar; Ly, Fatou; Bâ, Aïssatou; Mbaye, A.; Boiro, Djibril; Faye, P.M.; Dieng, Y. J.; Sow, Amadou; Thiongane, Aliou; Ba, I. D.; Thiam, Lamine; Fall, Amadou Lamine; Ndiaye, Oumar

doi:10.4236/ojped.2020.101013

Cited by 4 publications

(3 citation statements)

References 20 publications

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“…Congenital adrenal hyperplasia (CAH) (81.48% of XX DSD and 37.70% of all cases) was the primary etiology in our study. This is similar to findings in other studies [20,21,22]. This high frequency of CAH, in a context of absence of systematic neonatal screening and late diagnosis, requires particular attention because of the potentially serious and life-threatening consequences during the first days of life.…”

Section: Predictive Factors Of Genetic Sexsupporting

confidence: 88%

Clinical Presentation and Etiologic Diagnosis of Disorders of Sex Development in Children in Senegal

Niang,

Ly,

Keita

et al. 2024

AJPR

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Introduction: Disorders of Sex Development (DSD) refer to situations where chromosomal, gonadal or anatomical sex is atypical. We aimed to describe the baseline characteristics on clinical and etiological diagnosis of DSD in Senegalese children. Methods: This retrospective cohort study over a period of 8 years (2015-2022) included all children aged 0 to 18 years followed for DSD at the pediatric endocrinology department of NCHAR in Dakar. Sociodemographic clinical, paraclinical (genetics, imaging, hormonal) parameters were collected and analyzed with Epi Info 7.2. The description was made using position and dispersion parameters and illustrations in the form of appropriate tables and graphs. Bivariate analysis was used for associations between variables, with an alpha error risk of 5% and a CI of 95%. All ethical rules have been respected. Results: We included 102 DSD cases. Only 61 patients (59.80%) had a genetic diagnosis. Mean age at diagnosis was 31.2 ± 46.6 months. Rearing sex of child was male in 35 cases (57.38%) and female in 22 cases (36.06%) and undetermined in 4 cases (6.56%). Based on karyotype analysis, 31(50.82%) of children had 46,XY DSD, 27 (44.26%) had 46,XX DSD and three (4.92%) children with sex chromosome DSD. Etiologies were dominated by congenital adrenal hyperplasia (81.48%) and androgen insensitivity (38.71%) in 46,XX and 46,XY DSD respectively. External masculinization score > 4, palpation of a gonad, a phallus length > 2.5, a single urogenital orifice as well as ultrasound sex were associated with the XY karyotype. Conclusion: Health care professional and medical students should be trained for early diagnosis. A national guideline should be developed for diagnosis and management of DSD during and beyond the pediatric age group, and adapted to evidence and available resources. This can only be achieved if the management of DSD is supported by universal health insurance.

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Section: Predictive Factors Of Genetic Sexsupporting

confidence: 88%

Clinical Presentation and Etiologic Diagnosis of Disorders of Sex Development in Children in Senegal

Niang,

Ly,

Keita

et al. 2024

AJPR

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“…In Tunisia, Charfeddine et al [ 57 ] determined the genetic defect CYP21A2 in 50 Tunisian patients with the clinical diagnosis of 21-hydroxylase deficiency, with CYP21A2 mutations being identified in 87% of the alleles, whereas the most common point mutation was the pseudogene specific variant p.Q318X (26%). In a retrospective study on 43 patients with a disorder of sexual development (DSD) and 38 with adrenal insufficiency, Niang et al [ 58 ] reported that 32 had CAH, representing 74.4% and 84.2% of the causes of DSD and adrenal insufficiency, respectively. Of these 32, 27 (84.4%) were girls and 5(15.6%) were boys.…”

Section: Resultsmentioning

confidence: 99%

Characteristics and Challenges of Primary Adrenal Insufficiency in Africa: A Review of the Literature

Mofokeng

Beshyah

Ross

2022

International Journal of Endocrinology

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Backgrounds. Africa comprises 54 countries with varying degrees of economic development. As with other healthcare systems, rare diseases such as adrenal insufficiency are neglected and poorly documented. Objectives. We wished to explore primary adrenal insufficiency (PAI) in Africa, its prevalence, aetiology, genetics, presentation, diagnosis, and treatment and to determine the unmet needs in clinical care, education, and research. Materials and Methods. A narrative nonsystematic review of the literature was undertaken. We searched two online databases (PubMed and Google scholar) using the search terms “Addison’s disease/PAI, primary adrenal insufficiency coupled with “Africa,” “country names,” and “genetic disorders.” A total of 184 PAI records were reviewed. The exclusion of abstracts, conference proceedings, single case reports, and duplicate studies covering the same subject matter yielded 124 articles, of which 97 informed the final manuscript. Results. A wide range of aetiology of PAI was encountered, but their true prevalence is unknown. Aetiology varied with region and age of presentation as reflected by predominantly TB, HIV, and infective causes occurring in sub-Saharan Africa and more congenital forms described in North Africa associated with consanguinity. In Africa, the diagnostic criteria for PAI do not universally accord with conventional criteria, and there is a heavy reliance on clinical suspicion and biochemistry, including random cortisol of <400 nmol/L, rather than the tetracosactide test where stimulated cortisol <500–550 nmol/L confirms the diagnosis. Conclusions. A high index of suspicion is warranted to diagnose PAI in resource-limited settings, especially where tetracosactide tests are not universally available.

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“…Salt-wasting is characterized by salt loss, hyponatremia, hyperkalemia, dehydration, shock, and ambiguous genitalia. The varying degree of clitoris enlargement, posterior labial fusion in females, and pseudo-precocious puberty in males are the typical symptom of the simple virilizing (SV) type [3]. Genital ambiguity in CAH is caused by 21-hydroxylase deficiency and leads to difficulties in sex assignment after delivery, potentially complex reconstructive genital surgery, and parental distress [4].…”

Section: Introductionmentioning

confidence: 99%

Internal and External Behavior Outcomes in Children with Congenital Adrenal Hyperplasia: A Systematic Review

Deakandi¹,

Ni’mah²,

Rusdiana³

et al. 2023

International Journal of Scientific Advances

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Introduction: Congenital adrenal hyperplasia (CAH) is autosomal recessive disorders that disrupt adrenal steroidogenesis. Congenital adrenal hyperplasia (CAH) has been shown to potentially affect psychological adjustment. However, the behavior effect on glucocorticoid treatment in CAH patient remain unclear. The aim of this systematic review was to assess the internal and external behavior problems in CAH children due to glucocorticoid treatment. Methods: The systematic review was carried out using the PRISMA framework and the search strategy was based on the population, intervention, control, and outcome (PICO) model. The relevant article was search from Cochrane, Google Scholar, PubMed, Science Direct, Springer Link, Wiley Online Library Databases from February and March 2022. Results: Six studies were included in this review. The primary domain identified are internal and external behavior from the CBCL questionnaire. Three studies compared the external and internal behavior of CAH children with glucocorticoid treatment to healthy control, two studies post-natal, and one study during prenatal. Three other studies compared CAH with glucocorticoid treatment and the CAH control group. Conclusion: Children with CAH had better behavioral outcomes, especially in internal behavior in glucocorticoid-exposed children.

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Congenital Adrenal Hyperplasia: Diagnostic Features in a Limited Resource Country, Senegal

Cited by 4 publications

References 20 publications

Clinical Presentation and Etiologic Diagnosis of Disorders of Sex Development in Children in Senegal

Clinical Presentation and Etiologic Diagnosis of Disorders of Sex Development in Children in Senegal

Characteristics and Challenges of Primary Adrenal Insufficiency in Africa: A Review of the Literature

Internal and External Behavior Outcomes in Children with Congenital Adrenal Hyperplasia: A Systematic Review

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