Acta Pædiatrica ISSN 0803-5253
QUEST FOR THE DIAGNOSIS
Are some clinicians missing a trick when it comes to gender at birth? (Case Presentation) 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.12532
The Discussion and Diagnosis can be found on page 455. CASE PRESENTATION A 3520 g, infant born at 39 weeks of a primipara mother was delivered by caesarean section, due to breech presentation and significant uterine contractions. The parents were healthy nonconsanguineous Moslem Arabs, a 24-yearold mother and 28-year-old father. Examination at birth revealed significant clitoromegaly and enlargement of the labia major (Fig. 1), consistent with ambiguous-looking genitalia. Otherwise, the physical examination was normal. The labia minor were not fused, the urethral and vaginal openings were normal for a female infant, and no skin hyperpigmentation was noticed. Serum levels of glucose, sodium and potassium were obtained. An adrenocorticotropic hormone (ACTH) test was performed, including baseline and 60-minute serum hormonal levels, together with tests for cortisol, 17-OH progesterone and 11-deoxycortisol. Serum testosterone
352
level was also obtained. Abdominal ultrasonography was performed to determine the size of the adrenal glands and the presence of internal genital organs.
Figure 1
ª2014 Foundation Acta Pædiatrica. Published by John Wiley & Sons Ltd 2014 103, p. 352
QUEST FOR THE DIAGNOSIS
Are some clinicians missing a trick when it comes to gender at birth? (Case Presentation) 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.12532
The Discussion and Diagnosis can be found on page 455. CASE PRESENTATION A 3520 g, infant born at 39 weeks of a primipara mother was delivered by caesarean section, due to breech presentation and significant uterine contractions. The parents were healthy nonconsanguineous Moslem Arabs, a 24-yearold mother and 28-year-old father. Examination at birth revealed significant clitoromegaly and enlargement of the labia major (Fig. 1), consistent with ambiguous-looking genitalia. Otherwise, the physical examination was normal. The labia minor were not fused, the urethral and vaginal openings were normal for a female infant, and no skin hyperpigmentation was noticed. Serum levels of glucose, sodium and potassium were obtained. An adrenocorticotropic hormone (ACTH) test was performed, including baseline and 60-minute serum hormonal levels, together with tests for cortisol, 17-OH progesterone and 11-deoxycortisol. Serum testosterone
352
level was also obtained. Abdominal ultrasonography was performed to determine the size of the adrenal glands and the presence of internal genital organs.
Figure 1
ª2014 Foundation Acta Pædiatrica. Published by John Wiley & Sons Ltd 2014 103, p. 352
