Paediatrics Section DOI : 10.7860/JCDR/2016/18948.8235
Year : 2016 | Month : Aug | Volume : 10 | Issue : 08 Page : SL01 - SL01

Is Chromosomal Study Necessary for Girls with Inguinal Hernia?

Erdal Kurnaz1, Senay Savas-Erdeve2, Zehra Aycan3

1 Attending Physician, Pediatric Endocrinology Clinic, Dr. Sami Ulus Obstetrics and Gynecology and Pediatrics Training and Research Hospital, Ankara-Turkey.
2 Associate Professor, Pediatric Endocrinology Clinic, Dr. Sami Ulus Obstetrics and Gynecology and Pediatrics Training and Research Hospital, Ankara-Turkey.
3 Professor Doctor, Pediatric Endocrinology Clinic, Dr. Sami Ulus Obstetrics and Gynecology and Pediatrics Training and Research Hospital, Ankara-Turkey.

NAME, ADDRESS, E-MAIL ID OF THE CORRESPONDING AUTHOR: Dr. Erdal Kurnaz, Dr. Sami Ulus Obstetrics and Gynecology and Pediatrics Training and Research Hospital, Pediatric Endocrinology Clinic, Altındag/Ankara, 06020, Turkey.

Dear Editor

We read with great interest the recent case report by Konar S et al., [1]. They diagnosed an eight-year-old female presenting with bilateral inguinal hernia and a completely female phenotype as Complete Androgen Insensitivity Syndrome (CAIS) in that article. The authors suggested that screening for CAIS should be considered in all prepubertal girls presenting with inguinal swelling. We present the ultrasound findings of a newborn with a left inguinal mass from a paediatric endocrinology point of view.

A 10-day-old girl who had been born via normal spontaneous vaginal delivery at 39 weeks and with a birth weight of 3000 g was brought to our hospital by her family because of a palpable mass in the left groin. The case was evaluated at the paediatric endocrinology clinic after taking written consent from the family. The external genitalia were of female appearance but we thought that the gonad palpated in the left inguinal region could be the testis. Karyotype analysis was requested with a preliminary diagnosis of CAIS. Ultrasonography revealed that the uterus, 32x9x8 mm in size, was at the midline and the right ovary, 20x9x9 mm in size, was at its normal localisation. The left ovary was not at its normal localisation and a soft tissue area approximately 15x7.5x11 mm in size and consistent with ovary parenchyma was seen within the hernia sac in the left inguinal region. It contained 3-4 follicles with the largest 5 mm in size. The chromosome analysis result was 46,XX. The left ovary was reduced and hernia repair performed by the paediatric surgery department. We had requested karyotype analysis for the differential diagnosis before Ultra-Sonography (USG) was performed. However, we later decided there was no need for karyotype analysis and therefore prepared this letter accordingly.

CAIS is a rare condition with the estimated prevelance of 1:20000 and 1:99000 genetic male [2]. If one examines phenotypic females with inguinal hernias, the prevalence is noted to be 0.8% to 2.4% [2]. So, majority (> 97%) of phenotypic female cases presenting with inguinal hernia less likely to have CAIS. It has been suggested that all premenstrual girls with inguinal hernias should examined for CAIS [1]. If a testis is present in the hernia sac in a phenotypic female case presenting with inguinal hernia and there is no uterus on rectal examination, a preliminary diagnosis of CAIS can be considered. Another possibility is that the Mayer-Rokitansky-Kuster-Hauser (MRKH) patient, who will also have regression of the mullerian ducts and underdeveloped vagina. The physical examination will narrow the differential diagnosis and vaginal agenesis will most likely be due to the more common MRKH (46,XX) or CAIS (46,XY). We detected an ovary in the inguinal region in our case and the uterus was identified on USG. We therefore did not consider the MRKH but it should be considered in the differential diagnosis of CAIS in teenage cases presenting with primary amenorrhea. Current screening methods such as sonography or karyotype determination are time-consuming and costly and the purported incidence of CAIS has not been convincing enough to support their routine use [3]. Hurme T et al., diagnosed CAIS in only one case following karyotype analysis of 109 premenstrual females who had undergone inguinal hernia repair [4]. The first consideration when a gonad is palpated in the inguinal canal in paediatric endocrinology practice is therefore a testis, whether there is ambiguous genitalia or not, indicating a 46,XY sexual development disorder. However, there may be no need to perform chromosome analysis when a hernia sac containing the female reproductive organ(s) with a fully female external appearance. The uterus, cervix, fallopian tubes and proximal vagina will not develop in patients with a 46,XY chromosomal structure as there is a normal testis, testosterone production, conversion to dihydrotestosterone, and anti-Mullerian hormone. So, the vagina in CAIS is blind-ending, shortened and shows regression of the mullerian ducts. There may be no need for chromosome analysis and CAIS can be ruled out in general if there is a palpable gonad in the inguinal region in a patient with a female appearance and if ultrasonography reveals an ovary and uterus [5]. If no ovaries or fallopian tubes are found, consent for karyotyping should be sought [4].


[1]Konar S, Dasgupta D, Patra DK, De A, Mallick B, Chromosomal study is must for prepubertal girl with inguinal hernia: opportunity to diagnose complete androgen insensitivity syndrome J Clin Diagn Res 2015 9(4):1-3.  [Google Scholar]

[2]Oakes MB, Eyvazzadeh AD, Quint E, Smith YR, Complete androgen insensitivity syndrome--a review J Pediatr Adolesc Gynecol 2008 21(6):305-10.  [Google Scholar]

[3]Sarpel U, Palmer SK, Dolgin SE, The incidence of complete androgen insensitivity in girls with inguinal hernias and assessment of screening by vaginal length measurement J Pediatr Surg 2005 40(1):133-36.  [Google Scholar]

[4]Hurme T, Lahdes-Vasama T, Makela E, Iber T, Toppari J, Clinical findings in prepubertal girls with inguinal hernia with special reference to the diagnosis of androgen insensitivity syndrome Scand J Urol Nephrol 2009 43(1):42-46.  [Google Scholar]

[5]Okada T, Sasaki S, Honda S, Miyagi H, Minato M, Todo S, Irreducible indirect inguinal hernia containing uterus, ovaries, and Fallopian tubes Hernia 2012 16(4):471-73.  [Google Scholar]