|Year : 2016 | Volume
| Issue : 3 | Page : 116-118
Ambiguous external genitalia in a Nigerian neonate seen at a private health facility in South Eastern Nigeria
KI Achigbu1, KK Odinaka2, EO Achigbu3
1 Department of Paediatrics, Federal Medical Centre, Owerri, Imo State, Nigeria
2 Department of Paediatrics, Madonna University Teaching Hospital, Rivers State, Nigeria
3 Department of Ophthalmology, Federal Medical Centre, Owerri, Imo State, Nigeria
|Date of Submission||20-Mar-2016|
|Date of Acceptance||11-Aug-2016|
|Date of Web Publication||2-Nov-2016|
K K Odinaka
Department of Paediatrics, Madonna University Teaching Hospital, Elele, Rivers State
Source of Support: None, Conflict of Interest: None
The birth of a child with ambiguous genitalia poses a huge emotional burden to the parents and erodes the joyful experience of childbirth. Ambiguous genitalia is a disorder of sex development that affects 1 in 4500 live births. The diagnosis of ambiguous genitalia in a newborn infant is a social emergency because of the need to assign gender of rearing to the child early in life. We report a case of ambiguous genitalia in Nigerian neonate seen at a private health facility in Nigeria as well as highlight challenges in the management.
Keywords: Ambiguous genitalia, neonate, Nigerian
|How to cite this article:|
Achigbu K I, Odinaka K K, Achigbu E O. Ambiguous external genitalia in a Nigerian neonate seen at a private health facility in South Eastern Nigeria. J Health Res Rev 2016;3:116-8
|How to cite this URL:|
Achigbu K I, Odinaka K K, Achigbu E O. Ambiguous external genitalia in a Nigerian neonate seen at a private health facility in South Eastern Nigeria. J Health Res Rev [serial online] 2016 [cited 2020 Jul 7];3:116-8. Available from: http://www.jhrr.org/text.asp?2016/3/3/116/193182
| Introduction|| |
The birth of a child is usually a joyful experience for those parents who have their expectation met. Immediately after birth, parents desire to know the gender of their baby. The birth of a child with ambiguous genitalia poses a huge emotional burden to the parents, a dilemma for a paediatrician and often erodes the joyful experience of childbirth. Genitalia is considered ambiguous whenever there is difficulty in attributing gender to a child based on the appearance of the external genitalia., The disorder occurs in 1 out of every 4500 live births. The appearance of the external genitalia is a result of a complex interaction between genetic and endocrine factors during fetal development., The diagnosis of ambiguous genitalia in a newborn infant is a social emergency because of the need to assign gender of rearing to the child early in life, more so in some cultures where there may be preference for a certain gender. The American Academy of Pediatrics recommends that parents should be encouraged to avoid naming the child or registering the birth if possible until the sex of rearing is determined. The management of the child with ambiguous genitalia is multidisciplinary involving paediatrician, endocrinologist, surgeon, psychologist, and if need be a religious leader. However, in resource-poor settings most private health facilities do not operate joint specialty clinics, therefore, multidisciplinary management of patients is mainly feasible in government-owned health facilities. We present a case of ambiguous genitalia in a Nigerian neonate seen at a private health facility in Nigeria as well as highlight the challenges in the management of this patient.
| Case Report|| |
A 20-day-old child presented at a private clinic with a history of inability to feel the testes, vomiting, lethargy, and poor weight gain since birth and twitching of 2 days before presentation [Figure 1]. Mother ingested bromocriptine for galactorrhea before conception. The patient was delivered at term at a private health facility, weighed 3.3 kg at birth and is the second in a family with two children. The older sibling is apparently healthy. On examination, the baby had good spontaneous motor activity and was pink in room air. Anterior fontanelle was patent and muscle tone was normal in all limbs. Examination findings in other systems were essentially normal. The weight was 1.43 kg, temperature 36.6°C. Random blood sugar, serum calcium, sodium, chloride, and bicarbonate were all low while serum potassium and urea were elevated. Abdominal ultrasound did not visualize any ovary, uterus, or testicular tissue. Seventeen-hydroxyprogesterone assay was high. A diagnosis of ambiguous genitalia secondary to congenital adrenal hyperplasia (CAH) was made. The child was stabilized with intravenous fluids and hydrocortisone injection and subsequently referred to a tertiary health facility for multidisciplinary management.
| Discussion|| |
The delivery of a baby with ambiguous genitalia is a major cause of parental anxiety and can lead to psychosocial problems if not properly managed. It is important to determine the sex early so that the child can be reared with a sexual identity. However, in most developing countries including Nigeria, there is poor level of awareness and many children with ambiguous genitalia are either missed at birth or present late and this poses challenges of gender reassignment. In the index patient, the parents had already assumed their child was a male and had started raising the child as a male. In most African countries including Nigeria, male gender is considered superior and is preferred by most families. Therefore, it is not surprising that the parents had already assumed their baby was a male. This could also explain why the parents could not phantom the possibility that their baby might be a female.
In the evaluation of a child with ambiguous genitalia, karyotyping is useful in determining the actual genetic make-up of the child. We lack the facilities for karyotyping and the parents could not afford the high cost of sending the specimen out to specialized laboratories; therefore, karyotyping was not done for this patient. Abdominopelvic ultrasound did not visualize the gonads. Other authors have also documented a poor yield on the pelvic ultrasound. The plausible reason for this might be that the ovaries are not readily identified on ultrasound during the phase of low gonadotropin stimulation observed in children. It could also be due to the unavailability of more modern ultrasound machines as well as poor technique and expertise of the sonologist. In recognition of this drawback to the pelvic ultrasound, most centers in developing countries have adopted minilaparotomy for direct visualization of the internal genitalia to assign or confirm the gender of the baby. We could not perform laparotomy for the patient because we do not operate a surgical or gynecological service.
The most common cause of ambiguous genitalia is CAH. Our patient had CAH possibly the severe type usually due to 21-alpha-hydroxylase deficiency evidenced by the presence of vomiting, lethargy, seizures early in life, electrolyte derangements, and high blood level of 17-hydroxyprogesterone. Although bromocriptine has not been documented as a cause of CAH, the only significant finding in the history of the patient was ingestion of bromocriptine by the mother before pregnancy. The use of drugs during embryogenesis is discouraged because of the attendant risk to the fetus. It is possible the drug may have played a contributory role in the causation of the disorder.
The management of the child with ambiguous genitalia is multidisciplinary using team approach. The baby was referred after stabilization to a government-owned tertiary health facility where such care could be given. However, the father was hesitant about seeking expert care at the tertiary facility. He attributed the cause to a demonic attack and preferred to seek spiritual help. He also threatened to abandon his wife because she gives so much attention to the sick child; her matrimonial responsibilities toward him were being neglected and he felt ignored. This shows the enormity of the psychosocial impact the disorder may have on the affected families.
The strength of the study is that it would add to the data of babies with disorders with sex development and also help evaluate the possible role of bromocriptine in causation of ambiguous genitalia. The major limitation of this report is that it is a case report and majority of the investigations that would have helped in the management were not done due to financial constraint.
| Conclusion|| |
The management of a child with ambiguous genitalia is still a challenge in resource-poor settings. There is need to examine the genitalia of every newborn to enhance early diagnosis. Where the genitalia is ambiguous, the parents should be counseled on the need to seek early medical intervention for proper gender identification rather than to assume a sex of convenience.
| Future Research|| |
There is need to evaluate if bromocriptine can cause ambiguous genitalia.
Financial support and sponsorship
Conflicts of interest
There are no conflicts of interest.
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