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 Table of Contents  
ORIGINAL RESEARCH REPORT
Year : 2016  |  Volume : 13  |  Issue : 4  |  Page : 178-186

Congenital adrenal hyperplasia at the Lagos University Teaching Hospital: A 10-year review


1 Department of Paediatrics, College of Medicine, University of Lagos, Lagos University Teaching Hospital, Lagos, Nigeria
2 Department of Paediatric Endocrinology Training Centre for West Africa, Lagos University Teaching Hospital, Idi-Araba, Lagos, Nigeria

Date of Web Publication14-Oct-2016

Correspondence Address:
Elizabeth Eberechi Oyenusi
Department of Paediatrics, College of Medicine, University of Lagos, Lagos University Teaching Hospital, Lagos
Nigeria
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/2468-6859.192291

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  Abstract 

Introduction: Congenital adrenal hyperplasia (CAH) encompasses a group of autosomal recessive disorders, each of which involves a deficiency of an enzyme involved in the synthesis of cortisol, aldosterone, or both. More than 90% of CAH are caused by 21-hydroxylase deficiency (21HD), found in 1:10,000 to 1:15,000 live births. Early diagnosis of CAH is important because newborn babies with salt-losing forms of CAH die within days or weeks if not treated. In a resource-constrained setting, lack of awareness, poor health facilities, inadequate laboratory support, and expensive and erratic availability of drugs make most children with CAH vulnerable. Objectives: To describe characteristics of the children with CAH attending the Pediatric Endocrinology Clinic of Lagos University Teaching Hospital over a 10 years period. Subjects and Methods: Case records of patients with CAH attending the clinic from February 2005 to January 2015 were reviewed and data extracted from them for further statistical analysis using Microsoft Excel 2010. Results: Twenty eight patients (14 males and 14 females) were seen constituting 34% of the patients with ambiguous genitalia. The median (range) age of the patients was 7 (0.33-  21) years, and the median (range) age at presentation was 3 (0.01-15) years. These include within the neonatal period (25.0%), before 1 year (17.9%), before 5 years (25.0%), and beyond 5 years (32.1%). Modes of presentation included ambiguous genitalia, precocious puberty, salt loss, and discovery on screening because of an affected sibling. Presumed enzyme deficiencies are 21 hydroxylase (78.5% of which 18.2% salt-losing), 11-beta-hydroxylase (14.3%), 17α-hydroxylase (3.6%), and P450 oxidoreductase (3.6%), respectively. Six patients (21.4%) had associated hypertension. Other comorbidities include Blount's disease and pelvi-ureteric junction obstruction. Three male patients were also managed for subsequent associated central precocious puberty. Two siblings were affected in 3 nonconsanguineous families. One patient had contracted HIV/Acquired Immune Deficiency Syndrome from blood transfusion after clitoridectomy. Challenges in management include unavailability and unaffordability of investigations and drugs for treatment. Conclusions: CAH is an important cause of ambiguous genitalia and precocious puberty. Careful examination of the newborn genitalia is important, and a high index of suspicion maintained for salt-losing forms. Increased awareness should be created nationwide for prompt diagnosis and referral when applicable. Treatment is life-long and expensive.

Keywords: Children, congenital adrenal hyperplasia, deficiencies of 21-hydroxylase, 11β-hydroxylase, 17α-hydroxylase, P450-oxidoreductase enzymes


How to cite this article:
Oyenusi EE, Oduwole AO, Okorie OO, Adekoya AO, Nwaogu NT, Asafo-Agyei SB. Congenital adrenal hyperplasia at the Lagos University Teaching Hospital: A 10-year review. J Clin Sci 2016;13:178-86

How to cite this URL:
Oyenusi EE, Oduwole AO, Okorie OO, Adekoya AO, Nwaogu NT, Asafo-Agyei SB. Congenital adrenal hyperplasia at the Lagos University Teaching Hospital: A 10-year review. J Clin Sci [serial online] 2016 [cited 2019 Oct 15];13:178-86. Available from: http://www.jcsjournal.org/text.asp?2016/13/4/178/192291


  Introduction Top


Congenital adrenal hyperplasia (CAH) encompasses a group of autosomal recessive disorders, each of which involves a deficiency of an enzyme involved in the synthesis of cortisol, aldosterone, or both. [1] The deficiencies of these enzymes and a consequent defect in cortisol biosynthesis leads to a compensatory increase in pituitary production of adrenocorticotrophic hormone (corticotrophin) and hypothalamic production of corticotrophin-releasing hormone owing to a lack of the usual negative feedback by cortisol. [1],[2] The increased production of corticotrophin results in overproduction of androgens from excessive stimulation of the adrenal glands which lead to female virilization and male precocious puberty. [1],[2]

More than 90% of CAH are caused by 21-hydroxylase deficiency (21HD), found in 1:10,000-1:15,000 live births. [1],[2] This enzyme catalyzes the conversion of 17-hydroxyprogesterone (17-OHP) to 11-deoxycortisol and conversion of progesterone to deoxycorticosterone (DOC). [1],[2] The deficiency due to this enzyme activity is clinically divided into three phenotypes: Salt wasting, simple virilizing, and nonclassic. [1],[2] Other enzymes include 11 β-hydroxylase which converts DOC to corticosterone and converts 11-deoxycortisol to cortisol; 17α-hydroxylase which converts pregnenolone to 17-hydroxy pregnenolone and converts progesterone to 17-OHP. [1],[2] Other enzyme deficiencies occur rarely. [1],[2]

In ideal settings with optimal laboratory and imaging resources, the diagnosis of CAH depends on the demonstration of the inadequate production of cortisol, aldosterone, or both in the presence of accumulation of excess concentrations of precursor hormones, as follows. [2],[3],[4]

21-hydroxylase deficiency

High serum concentration of 17-OHP and urinary pregnanetriol (metabolite of 17-OHP) in the presence of clinical features suggestive of the disease and elevated 24 h urinary 17-ketosteroid levels.

Salt-wasting forms of congenital adrenal hyperplasia

Low serum aldosterone concentrations, hyponatremia, hyperkalemia, and elevated plasma renin activity (PRA), indicating hypovolemia.

11-beta-hydroxylase deficiency

Excess serum concentrations of 11-deoxycortisol and DOC, or an elevation in the ratio of 24 h urinary tetrahydro compound S (metabolite of 11-deoxycortisol) to tetrahydro compound F (metabolite of cortisol) and elevation of 24 h urinary 17-ketosteroid levels.

Computed tomography scanning of the adrenal gland, pelvic ultrasonography, urogenitography, bone age X-rays, karyotype, and genetic mutation analysis may also be needed as indicated for confirming diagnosis. However, in settings with minimal laboratory and imaging resources, being that each enzyme deficiency produces characteristic clinical features, a carefully taken medical history, a thorough examination and laboratory investigations such as electrolytes, ultrasonographic imaging, and radiological investigations lead to probable diagnosis in order to institute early management since all treatment of all forms of CAH consists of replacement doses of glucocorticoid hormones using hydrocortisone preferably. [4]

Early diagnosis of CAH is important because newborn babies with salt-losing forms of CAH die within days or weeks if not treated. [2],[3],[4],[5] CAH is the most common cause of ambiguous genitalia and may result in affected girls being wrongly sex-assigned and raised as males. [4] Furthermore, when the diagnosis is not made early in the non-salt losing (simple virilizing) forms, it can cause precocious puberty in boys, virilization in girls, and a short final adult height in both sexes. [2],[3],[4],[5]

Management of many pediatric endocrine disorders including CAH is quite challenging, especially in developing countries. [6],[7],[8] Lack of awareness and inadequate laboratory and imaging facilities for diagnosis result in late presentation, misdiagnosis and sometimes poor outcomes in children with CAH. [6],[7],[8] Newborn screening for CAH is recommended and is available in many developed countries. [5] Unfortunately, newborn screening for CAH is not yet available in Nigeria. This may be due to the fact that in most tropical developing countries of Africa, endocrine disorders are ranked low in terms of priority by healthcare planners and administrators, resulting in meager allocation of resources to this sub-specialty within the health sub-sector. [7]

Hence, this study sought to report the characteristics of the children who are being managed for CAH at the Lagos University Teaching Hospital and to highlight the challenges encountered in the management of patients in a resource-constrained setting like ours.


  Subjects and methods Top


The case records of all the patients diagnosed with CAH in the clinic from February 2005 to January 2015 were reviewed. Information such as present age, sex, age at presentation, socio-economic status (Oyedeji's [9] classification based on the educational attainments and occupations of parents or their substitutes) was obtained. Other information obtained also included presenting features, family history of similar conditions, associated comorbidities, investigation results, presumed enzyme deficiency, treatment given, and challenges with management. The measured blood pressures of the patients were interpreted using reference percentile charts in relation to the height centiles.

The patients were diagnosed with CAH based on clinical features, serum levels of precursors and metabolites, radiological investigations such as bone age and pelvic ultrasonography in an experienced hand, serum electrolytes, urea and creatinine, karyotype (in few patients). [4] Classification of likely enzyme deficiencies was defined as:

  • Females with 21HD, simple virilizing: Clitoromegaly without palpable gonads, normal blood pressure readings, normal serum sodium, and potassium values, increased serum levels of (17-OHP) and testosterone, low serum cortisol, female internal organs ± XX karyotype
  • Females with 21HD, salt wasting: Clitoromegaly without palpable gonads, normal blood pressure readings, hyponatremia, hyperkalemia, increased serum levels of 17-OHP and testosterone, low serum cortisol, female internal organs ± XX karyotype
  • Males with 21HD, simple virilizing: Peripheral precious puberty, normal blood pressure readings, normal serum sodium, and potassium values, increased serum levels of 17-OHP and testosterone, low serum cortisol, and palpable prepubertal sized testes
  • Males with 21HD, salt wasting: Clinical features of salt loss, hyponatremia, hyperkalemia, increased serum levels of 17-OHP and testosterone, low serum cortisol, and palpable prepubertal sized testes
  • Females with 11 βHD: Clitoromegaly without palpable gonads, hypertension, hypokalemia, marginally increased serum levels of 17-OHP, increased testosterone, low serum cortisol, female internal organs ± XX karyotype
  • Males with 11 βHD: Peripheral precious puberty, hypertension, hypokalemia, marginally increased serum levels of 17-OHP, increased levels of testosterone, low serum cortisol, and palpable prepubertal sized testes
  • Male with 17α-HD (17α-HD): Undervirilization of a karyotypic male, hypertension, hypokalemia, low cortisol levels, low testosterone levels, failure to develop pubertal signs at 15 years of age, absent female internal organs and both testes in the inguinal canal
  • Male with P450 oxidoreductase deficiency (P450 ORD): Clinical and laboratory features of partial 21HD and 17α-HD/17, 20 lyase; bilateral undescended testes, hypospadias, severe hypertension, markedly elevated serum levels of 17-OHP, and absent female internal organs with XY karyotype.


The Health Research and Ethics Committee of the Lagos University Teaching Hospital approved the study and waived the requirement for informed consent. Data retrieved were analyzed with Microsoft Excel 2010 and presented as counts, frequencies, and percentages while continuous data were expressed as median with minimum and maximum values.


  Results Top


Twenty eight patients were seen (14 males and 14 females), and they constituted 34% of the 82 patients who were seen with ambiguous genitalia during the study period. The median (range) age of the patients was 7 (0.33-21) years.

[Table 1] shows the demographic and clinical characteristics in combination with investigations of patients suggestive of 21HD. Eighteen patients (81.8%) with presumed 21HD showed features of the simple virilizing type while four patients (18.2%) had associated salt loss. All the patients were placed on hydrocortisone therapy with the addition of fludrocortisone (when available) to the patients with salt wasting. In the group of patients presented in [Table 1], three families (patients no 9 and 10; 14 and 15, 19 and 20) had two siblings affected with CAH. The attention of the parents was drawn to the second sibling after counseling sessions with them on presenting features and the pathophysiology of CAH. There was no history of parental consanguinity in these families and all the other patients in the study. Associated comorbidities were Blount's disease in patient no 1 and Acquired Immune Deficiency Syndrome in patient no 9 following transfusion after clidorectomy done in a private health facility before presentation. Three male patients (patients no 2, 4 and 21) were being managed for associated central precocious puberty (CPP) with gonadotrophin-releasing hormone agonist (GnRHa), out of which patient no 4 has reached the age of puberty necessitating discontinuation of the therapy. The GnRHa used was leuprolide 3.75 mg (1 vial) monthly or 7.5 mg (2 vials) monthly according to the age-dependent dose required.
Table 1: Demographic and clinical characteristics in combination with investigations of patients suggestive of 21-hydroxylase deficiency

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The demographic and clinical characteristics in combination with investigations of patients suggestive of hypertensive forms of CAH (11β-HD, 17α-HD P450 ORD) are shown in [Table 2]. Four patients presented with features suggestive of 11β-HD out of which three of them required the addition of an antihypertensive (amlodipine) to the hydrocortisone therapy they were given until resolution of hypertension. In addition, patient no 3 also required addition of spironolactone (a potassium sparing diuretic) to treat hypertension because of persistent hypokalemia. The co-morbidity encountered in this group of patients was a diagnosis of pelvi-ureteric junction obstruction in patient no 1 at the age of 6 years. He had an open Anderson-Hynes left pyeloplasty done by the urologist and is stable on follow-up. The table also showed the characteristics of the male (patient no 5) with presumed 17α-HD who presented at 15 years of age with the absence of pubertal signs initially being raised as a female. Examination revealed hypertension in association with ambiguous external genitalia. Serum investigation results showed low cortisol, testosterone levels, and 17-OHP levels, respectively, with hypokalemia. Pelvic ultrasonography showed absent female internal organs and both testes in the inguinal canal. Karyotype was XY confirming a male chromosomal sex. Patient no 6 was presumed to have P450 ORD because his clinical features were suggestive of combined partial combined17α-hydroxylase/17, 20 lyase, and 21-hydroxylase deficiencies. The patient presented with ambiguous external genitalia. Severe hypertension was detected on thorough examination. The patient already had karyotype (XY) done on presentation, being from a high socioeconomic status and also covered by medical insurance. His serum investigation results showed markedly elevated serum 17-OHP levels, normal serum cortisol, testosterone, and electrolyte levels. Pelvic ultrasonography showed absent female internal organs, a right pelvic kidney and both testes in the inguinal canal. He was placed on hydrocortisone and amlodipine, which was discontinued after two months on resolution of hypertension. He has had the first stage repair of the hypospadias and awaiting further surgery for the undescended testes.
Table 2: Demographic and clinical characteristics in combination with investigations of patients suggestive of 11-beta-hydroxylase deficiency, 17α-hydroxylase deficiency and P450 oxidoreductase deficiency

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Blood glucose levels, serum urea, and creatinine were normal in all the patients. All the patients who presented with precious puberty showed advanced skeletal age on X-rays of the left hand and wrist.

A summary of the age group at the presentation of all the patients is shown in [Table 3]. The median (range) age at presentation was 3 (0.01-15) years. Twelve patients (42.9% of the total patients) presented within the 1 st year of life and out of these, seven (58.3%) during the neonatal period constituting 25% of all the patients.
Table 3: Summary of age group at presentation of all the patients

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The socioeconomic status of all the patients depicted in [Table 1] and [Table 2] showed that about 61% were from a low socio-economic background. The investigations required to measure the metabolites and precursors to make a definite diagnosis of CAH are quite expensive and not always available. Available investigations presently are serum cortisol (₦5300 [$26.5]), serum 17-OHP (₦6660 {$33.3}), serum total testosterone (₦6280 {$31.4}), PRA (₦28150 {$140.8}). The cost of karyotyping is ₦97,000 ($485). Among the seven patients who had karyotype done, only one patient was able to do the investigation within the first 2 months of presentation, the other six patients did the karyotype within a period ranging from 6 months to 2 years. The patients are also on life-long oral hydrocortisone therapy ranging from 12 to 18 mg/m 2 /day which are usually doubled or tripled during periods of stress. Hydrocortisone tablets are not readily available but when they are found, cost ₦200 ($1) and from patients' experiences, the very few pharmacy stores who import hydrocortisone tablets do not sell in small quantities, and the patient has to procure a pack of 100 (₦20,000, $200) at a time. Fludrocortisone tablets are rarely available and most times imported on request. Four female patients, [patients no 6, 7, 9 with presumed 21HD in [Table 1] and patient no 3 with presumed 11β-HD in [Table 2] had clitoroplasty. The cost of surgery is also enormous with the associated risks. Problems with gender assignment, informing close relations and neighbors and social stigmatization were also encountered especially with the female patients with clitoromegaly. Investigations and treatment for the patients with CPP was also exorbitant for the affected patients. Treatment with GnRHa agonist (leuprolide) costs about ₦27000 ($135) for a vial monthly and ₦54000 ($270) for the patient who needed two vials.

[Figure 1] is a photograph of a 4-year-old male with 21HD presenting with precocious genital development.
Figure 1: Four-year-old male with 21-hydroxylase deficiency presenting with precocious genital development

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[Figure 2] is a photograph of a 1-month old female child with 21HD presenting with clitoromegaly.
Figure 2: One-month-old female with presumed 21-hydroxylase deficiency presenting with clitoromegaly

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  Discussion Top


CAH is the most common adrenal disorder in childhood and has been documented to be the single most common cause of ambiguous genitalia in the newborn. [10] This was also reflected in this present study in which CAH accounted for a significant number of children with genital ambiguity. Various studies have also documented this pattern where CAH accounted for between 27.5 and 60% of cases of ambiguous genitalia. [11],[12],[13]

There is an almost equal male to female ratio in our study as has been noted by many reports in literature [1],[14] except a study from Benin, Nigeria, [6] where the patients were predominantly females. This could be because the report was from a surgical department where many female patients may present to seek consultation for possible feminizing surgeries.

The age at presentation varies in those settings where routine newborn screening for CAH is not available. It is heartening to note that a significant proportion of the patients in the index study presented early (as early as within 24 h of birth) as also noted in other studies from Great Britain [14] and Asia. [13],[15] Nevertheless, most of our patients who presented early were females most probably because of virilization of the external genitalia unlike the other studies [13],[14],[15] where many male infants also presented early because of salt-losing crisis. Possible reasons could be the deaths of babies with salt-losing forms of CAH due to lack of diagnosis or misdiagnosis as other neonatal conditions such as neonatal sepsis which is prevalent in Nigeria. [16]

However, the age of presentation in the present study is at variance with a previous Nigerian study from Benin [6] which showed late presentations (earliest was at 2 years of age). Various factors may account for this. This may due to the level of awareness of health care workers and parents in the different settings. It may be associated with a more metropolitan nature of the city of the current study compared with the study from Benin. Another possible reason may be the social challenge faced by parents at school entry (kindergarten or playgroups) especially with regards to teachers and caregivers in the school raising questions about the abnormal genitalia which may be visualized during use of toilet facilities. This compels the parents to seek help at this particular point in time especially for feminizing surgery.

The most common presumed enzyme deficiency in this study was 21HD as has been reported in literature and many previous studies. [1],[13],[14],[15] However, the proportion of salt-losing cases though comparable to the Great Britain study was lower than the commonly documented prevalence rate of 66-75%, [2],[17] as also documented in other Asian studies. [13],[15] Lower numbers of patients presenting in the neonatal period in the current study may be due to many deliveries still being attended to by unskilled attendants, low level of awareness by trained health workers, and lack of newborn screening for CAH. Nonetheless, it must be emphasized that a high index of suspicion must be maintained for the salt-losing form of CAH especially in boys (who are unlikely to be diagnosed on account of genital virilization) to avoid a potentially life-threatening crisis within the neonatal period.

Steroid 11β-HD is the second most common cause of CAH. [18] This was also noted in the index study. It has been reported to account for between 5 and 8% of cases of CAH. [18],[19] However, the percentage of cases was higher than commonly reported. This may be due to the smaller sample size of our patients compared to the other studies. However, this is contrary to a report from a previous Nigerian study [6] where 11β-HD was the most common enzyme deficiency observed. It is also interesting to note also that isolated case reports on CAH from various parts of Nigeria have been on 11β-HD with hypertension. [8],[20],[21] It is not immediately obvious whether CAH with 11β-HD may be more common in various parts of the country or it may just be that the attention of the health care professionals was drawn to the patients because of hypertension and/or associated complications such as heart failure that occurred in one of the cases. [8] More prospective studies are needed to elucidate whether certain enzyme deficiencies are more predominant in various parts of Nigeria.

A patient with features suggestive of 17α-HD, characterized by undervirilization and associated hypertension [3],[4] was also encountered in the current study. The patient with features suggestive of P450 oxidoreductase deficiency had features of combined 17α-hydroxylase/17, 20 lyase, and 21-hydroxylase deficiencies. This is because POR is an electron donor enzyme to 17α-hydroxylase/17, 20 lyase and 21-hydroxylase enzymes. Therefore mutations in POR will result in such features. [22] It may be associated with skeletal malformations in the  Antley-Bixler syndrome More Details and in some cases with normal skeletal development [22] as and normal cortisol levels depending on the severity of the enzyme deficiencies as was seen in our patient.

There was hypertension at presentation in the patients with presumed 11 β-hydroxylase, 17α-hydroxylase, and POR deficiencies, respectively. This has been documented in many other studies and case reports. [3],[18],[19],[20],[21],[22] Hypertension in the patients with these enzyme deficiencies is caused by overproduction of DOC (a potent mineralocorticoid) and its derivatives which leads to retention of sodium. [3],[18] Patients are usually treated with glucocorticoid replacement but sometimes addition of antihypertensive therapy may be necessary [18] as was experienced in the management of our patients.

While CAH is a recognized cause of peripheral precocious puberty, some children with CAH also develop CPP with the early maturation of the hypothalamic-pituitary-gonadal axis. [5],[23] This was also encountered in three of the male patients with nonsalt-losing CAH that presented with advanced bone age. Chronic mildly to moderately elevated androgens or intermittent hyperandrogenemia may trigger the activation of the hypothalamic-pituitary axis leading to CPP. [23] Nonsalt-losing children, particularly boys are more at risk because frequently, they may not diagnosed until three to 7 years of age, at which time osseous maturation may be 5 years or more in advance of chronologic age. [24] If the bone age is 12 years or more, spontaneous CPP may occur as therapy with hydrocortisone suppresses production of adrenal androgens and permits release of pituitary gonadotropins if the appropriate level of hypothalamic maturation is already present. [5],[24]

In affected children with CPP, addition of a GnRHa to the treatment with hydrocortisone is usually necessary and had to be instituted in our patients. [5],[23],[24] GnRHa works by consistent stimulation of gonadotrophic hormones leading to inhibition of cyclic secretion of these hormones and prevents the progression of puberty. [23]

CAH, being inherited in an autosomal recessive manner has the potential of affecting more than one child in a family. At conception, each sibling of an affected individual has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier. [22] In the present study, the percentage of families in which more than one child was affected was comparable to studies from Great Britain and Iran. [14],[25] However, other reports from Pakistan [15] and Saudi Arabia [26] had a greater proportion of families with an affectation of more than one child (30.6% and 55.4%, respectively).

Parental consanguinity has been postulated to contribute to high rates of CAH among certain populations. [25],[26] There was no history of parental consanguinity in any of the patients in the current study in contrast to studies from Asian countries where the rates of parental consanguinity in patients with CAH ranged from 52.3% to as high as 82%. [15],[25],[26]

There is limited information about upper-tract genitourinary anomalies in CAH. However, a prospective study by Nabhan and Eugster [27] involving 107 patients with CAH found Pelvic-Ureteric obstruction in a boy with CAH as was seen in only one male patient in this study. A summary of other studies effectively establishes an increased incidence of upper tract anomalies in children with CAH compared with the general population. [27] Follow-up is recommended to monitor for complications especially those that can result in irreversible kidney damage.

The goals of genital surgery in the virilized female child with CAH is to achieve a genital appearance compatible with gender, unobstructed urinary emptying without incontinence or infections, and good adult sexual and reproductive function. [5],[28] Surgery on infants with ambiguous genitalia requires a high degree of expertise and should only be performed in centers with significant experience. [2],[5],[28] In addition, care should be taken to guard against direct and indirect complications of surgery such as transfusion-related complications. Unfortunately, many patients including children still get infected with HIV virus due to unsafe blood transfusion practices in sub-Saharan Africa [29] as occurred in one patient in the present study.


  Conclusions Top


CAH constitutes an important cause of presentation with ambiguous genitalia and precocious puberty. Neonatal mass screening for 21HD is recommended because of early identification of both male and female affected infants, thereby preventing incorrect sex assignment, and decreasing mortality and morbidity. [5],[28] However, in settings without established newborn screening for CAH, adequate history, careful and detailed examination including that of the genitalia remains an essential tool in detection of a significant proportion of children with ambiguous genitalia due to CAH. In addition, a high index of suspicion should be maintained in sick neonates with electrolyte derangements especially hyponatremia and hyperkalemia in order to rule out salt-wasting forms of CAH.

Increased awareness should be created nationwide for prompt diagnosis and referral when applicable. This will also eliminate the myths and stigmatization associated with the condition in some populations. CAH is a chronic disease requiring lifelong monitoring and treatment. The instituted National Health Insurance Services should be strengthened to incorporate the management of CAH.

A well-organized multidisciplinary team (including specialists in pediatric endocrinology, psychosocial services, pediatric surgery/urology, and genetics) is essential. Adequate follow-up and transition of care to the adult endocrinologist, gynecologist, or urologist is also important because some female patients have problems with fertility and adult males as well due to ectopic adrenal tissue located in the testes (testicular adrenal rests) which can result in oligo/azoospermia or Leydig cell failure. [5],[30]

Limitations of the study include the retrospective nature and the lack of facilities for molecular studies and specific genetic mutation analysis in firmly establishing the specific enzyme deficiencies and mutations. Future studies are required to elucidate the molecular genetics of CAH in our population and be able to correlate genotypes with phenotypes.

Acknowledgment

The authors wish to appreciate Dr. Umar, Dr. Ibrahima, and Dr. Soro for their contributions toward data acquisition for this study.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.

 
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    Figures

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    Tables

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