Acta Pædiatrica ISSN 0803-5253
QUEST FOR THE DIAGNOSIS
Are some clinicians missing a trick when it comes to gender at birth? (Discussion and Diagnosis) Irena Ulanovsky1,2, Vardit Gepstein2,3, Anat Illivitzki2,4, Ella Roth1, Imad R Makhoul ([email protected])1,2 1.Department of Neonatology, Technion, Haifa, Israel 2.Rappaport Faculty of Medicine, Technion, Haifa, Israel 3.Department of Pediatric Endocrinology, Technion, Haifa, Israel 4.Department of Diagnostic Imaging, Rambam Health Care Campus, Technion, Haifa, Israel
Correspondence Prof. Imad R. Makhoul, MD, PhD, Department of Neonatology, Rambam Medical Center, Bat-Galim, Haifa 31096, Israel. Tel: 972-4-8542219 | Fax: 972-4-8543430 | Email: [email protected] Received 1 November 2013; revised 28 November 2013; accepted 4 December 2013. DOI:10.1111/apa.12536
The Case Presentation can be found on page 352. DISCUSSION A quick glance at the infant’s genitalia at birth would immediately raise the possibility of a female newborn infant with virilisation due to congenital adrenal hyperplasia. However, the laboratory and imaging workup ruled out congenital adrenal hyperplasia as the serum levels of glucose (68 mg/dL), sodium (144 mEq/L) and potassium (5.4 mEq/L) were all normal. The ACTH test (0.125 mg) was normal, with the following baseline and 60-minute serum hormonal levels, respectively: cortisol (28 ? 1286 nmol/L), 17-OH progesterone (0.5 ? 2.3 nmol/L) and 11deoxycortisol (3.0 ? 11.5 nmol/L). Testosterone level was normal (0.8 nmol/L). Ultrasonography showed a normal uterus and normal-size adrenal glands. The enlargement of the clitoris and labia major gradually decreased during the first week of life (Fig. 2A). Follow-up A
at 3 weeks (Fig. 2B) and 3 months of age (Fig. 2C) showed an infant that was growing and developing normally and no longer had an enlarged clitoris or labia. Her external genitalia looked normal. During breech presentation, the presenting part of the foetus can become swollen or even injured (1–4). For example, Carceller et al. (1) described two female neonates with haematoma and bleeding of the external genitalia after vaginal delivery with breech presentation. Tiwary et al. (2) showed that 19 of 134 (14.2%) males born vaginally with breech presentation had injury to their buttocks, scrotum or testis. Furthermore, follow-up showed that 10 infants (6.5%) were found to have damage to their testis when they were palpated. Of these 10 infants, only three had normal testis at 4 years of age. Negrine et al. (3) described an infant with scrotal rupture following vaginal breech delivery. In addition, Finan et al. (4) described a
B
C
Figure 2
ª2014 Foundation Acta Pædiatrica. Published by John Wiley & Sons Ltd 2014 103, pp. 455–456
455
Ambiguous genitalia in breech presentation
Ulanovsky et al.
neonate with severe scrotal ecchymosis resulting from a breech delivery. It is noteworthy that, in female premature infants, the unusual genital appearance of a prominent clitoris with thin labia major can easily be mistaken for true ambiguous genitalia (5). The results of blood and urine tests carried out on these premature infants can be misleading due to persistence of the foetal zone of the adrenal cortex. Nonetheless, this condition is transient in the vast majority of these infants. We speculate that in the present case, the enlargement of clitoris and labia major was due to pressure on the foetal genitalia as the foetus presented in the breech position. It is important for paediatricians, neonatologists and paediatric endocrinologists to add this transient benign entity to the differential diagnosis of ambiguously looking genitalia at birth.
Figure 1 Clitoral and labial size at birth. Figure 2 Clitoral and labial size at day 5 (A), 3 weeks (B) and 3 months of age (C).
References 1. Carceller A, Dansereau C, Blanchard H. Neonatal genital trauma associated with breech presentation. CMAJ 2002; 166: 1306–7. 2. Tiwary CM. Testicular injury in breech delivery: possible implications. Urology 1989; 34: 210–2. 3. Negrine R, Easter W, Fraser I, Ellis S. Neonatal testicular trauma: scrotal rupture. Arch Dis Child Fetal Neonatal Ed 2010; 95: F193. 4. Finan BF, Redman JF. Neonatal genital trauma. Urology 1985; 25: 532–3. 5. Greaves R, Kanumakala S, Read A, Zacharin M. Genital abnormalities mimicking congenital adrenal hyperplasia in premature infants. J Paediatr Child Health 2004; 40: 233–6.
DIAGNOSIS Ambiguous genitalia at birth due to breech presentation: a transient benign condition.
456
ª2014 Foundation Acta Pædiatrica. Published by John Wiley & Sons Ltd 2014 103, pp. 455–456
QUEST FOR THE DIAGNOSIS
Are some clinicians missing a trick when it comes to gender at birth? (Discussion and Diagnosis) Irena Ulanovsky1,2, Vardit Gepstein2,3, Anat Illivitzki2,4, Ella Roth1, Imad R Makhoul ([email protected])1,2 1.Department of Neonatology, Technion, Haifa, Israel 2.Rappaport Faculty of Medicine, Technion, Haifa, Israel 3.Department of Pediatric Endocrinology, Technion, Haifa, Israel 4.Department of Diagnostic Imaging, Rambam Health Care Campus, Technion, Haifa, Israel
Correspondence Prof. Imad R. Makhoul, MD, PhD, Department of Neonatology, Rambam Medical Center, Bat-Galim, Haifa 31096, Israel. Tel: 972-4-8542219 | Fax: 972-4-8543430 | Email: [email protected] Received 1 November 2013; revised 28 November 2013; accepted 4 December 2013. DOI:10.1111/apa.12536
The Case Presentation can be found on page 352. DISCUSSION A quick glance at the infant’s genitalia at birth would immediately raise the possibility of a female newborn infant with virilisation due to congenital adrenal hyperplasia. However, the laboratory and imaging workup ruled out congenital adrenal hyperplasia as the serum levels of glucose (68 mg/dL), sodium (144 mEq/L) and potassium (5.4 mEq/L) were all normal. The ACTH test (0.125 mg) was normal, with the following baseline and 60-minute serum hormonal levels, respectively: cortisol (28 ? 1286 nmol/L), 17-OH progesterone (0.5 ? 2.3 nmol/L) and 11deoxycortisol (3.0 ? 11.5 nmol/L). Testosterone level was normal (0.8 nmol/L). Ultrasonography showed a normal uterus and normal-size adrenal glands. The enlargement of the clitoris and labia major gradually decreased during the first week of life (Fig. 2A). Follow-up A
at 3 weeks (Fig. 2B) and 3 months of age (Fig. 2C) showed an infant that was growing and developing normally and no longer had an enlarged clitoris or labia. Her external genitalia looked normal. During breech presentation, the presenting part of the foetus can become swollen or even injured (1–4). For example, Carceller et al. (1) described two female neonates with haematoma and bleeding of the external genitalia after vaginal delivery with breech presentation. Tiwary et al. (2) showed that 19 of 134 (14.2%) males born vaginally with breech presentation had injury to their buttocks, scrotum or testis. Furthermore, follow-up showed that 10 infants (6.5%) were found to have damage to their testis when they were palpated. Of these 10 infants, only three had normal testis at 4 years of age. Negrine et al. (3) described an infant with scrotal rupture following vaginal breech delivery. In addition, Finan et al. (4) described a
B
C
Figure 2
ª2014 Foundation Acta Pædiatrica. Published by John Wiley & Sons Ltd 2014 103, pp. 455–456
455
Ambiguous genitalia in breech presentation
Ulanovsky et al.
neonate with severe scrotal ecchymosis resulting from a breech delivery. It is noteworthy that, in female premature infants, the unusual genital appearance of a prominent clitoris with thin labia major can easily be mistaken for true ambiguous genitalia (5). The results of blood and urine tests carried out on these premature infants can be misleading due to persistence of the foetal zone of the adrenal cortex. Nonetheless, this condition is transient in the vast majority of these infants. We speculate that in the present case, the enlargement of clitoris and labia major was due to pressure on the foetal genitalia as the foetus presented in the breech position. It is important for paediatricians, neonatologists and paediatric endocrinologists to add this transient benign entity to the differential diagnosis of ambiguously looking genitalia at birth.
Figure 1 Clitoral and labial size at birth. Figure 2 Clitoral and labial size at day 5 (A), 3 weeks (B) and 3 months of age (C).
References 1. Carceller A, Dansereau C, Blanchard H. Neonatal genital trauma associated with breech presentation. CMAJ 2002; 166: 1306–7. 2. Tiwary CM. Testicular injury in breech delivery: possible implications. Urology 1989; 34: 210–2. 3. Negrine R, Easter W, Fraser I, Ellis S. Neonatal testicular trauma: scrotal rupture. Arch Dis Child Fetal Neonatal Ed 2010; 95: F193. 4. Finan BF, Redman JF. Neonatal genital trauma. Urology 1985; 25: 532–3. 5. Greaves R, Kanumakala S, Read A, Zacharin M. Genital abnormalities mimicking congenital adrenal hyperplasia in premature infants. J Paediatr Child Health 2004; 40: 233–6.
DIAGNOSIS Ambiguous genitalia at birth due to breech presentation: a transient benign condition.
456
ª2014 Foundation Acta Pædiatrica. Published by John Wiley & Sons Ltd 2014 103, pp. 455–456
