J Ped Surg Case Reports 1 (2013) 403e405

Contents lists available at ScienceDirect

Journal of Pediatric Surgery CASE REPORTS

journal homepage: www.jpscasereports.com

Clitoral anomalies not associated with disorders of sex developmentq

Adriano Luís Gomes a,*, Luciano Silveira Onofre a, Jovelino Quintino de Souza Leão a, Fernanda Ghilardi Leão a, Tayane Magalhães Amaral Cruz a, Maria Helena Palma Sircilli b, José Carnevale a a Pediatric Urology Division, Hospital Infantil Darcy Vargas, Rua Doutor Seraphico de Assis Carvalho, 34, Morumbi, São Paulo, SP CEP 05614-040, Brazil b Pediatric Urology Division, Hospital Infantil Cândido Fontoura, Rua Siqueira Bueno, 1757, Água Rasa, São Paulo, SP CEP 03172-010, Brazil article info abstract

Article history: Clitoral enlargement secondary to any hormonal, gonadal or chromosomal alteration must be differenti- Received 8 August 2013 ated from many other diseases that affect the clitoral structure in children. This study describes a few Received in revised form anomalies that affect the clitoris by enlarging it, with no corresponding hypertrophies of the erectile bodies 1 November 2013 or glans that characterize clitoromegaly (CMG) itself, or endocrine or genetic etiology. The first patient had Accepted 1 November 2013 nothing but the clitoral hood enlarged, and following surgical correction the anatomopathological exam revealed lymphoangiofibroma. The second patient presented with an epidermoid cyst on the clitoral body and the third one, with a diffuse involvement of the hood alone, was a soft fibroma. All had normal body and Key words: Acquired clitoromegaly glans. Investigation of the evolution of those diseases through careful anamnesis and physical examination Clitoris reduces the need for time consuming investigations and complex complementary exams prior to the Clitoromegaly surgical approach, minimizing embarrassment and anxiety on the part of the patients and their family. Clitoral enlargement Ó 2013 The Authors. Published by Elsevier Inc. All rights reserved.

Although clitoral enlargement goes unnoticed to people in gen- progressive enlargement of the clitoris, which started two years eral in most cases, people with clitoral anomalies drive their atten- prior to her first visit to the pediatrician. The child denied any tion to their genital organ, which condition may cause a substantial trauma or other alterations associated with CMG. A careful clin- psychosocial impact [1]. ical examination revealed enlargement of the clitoral hood alone, Clitoral enlargement secondary to a hormonal, gonadal or particularly in its dorsal portion, with body and glans showing chromosomal alteration, present mainly in disorders of sex normal anatomical characteristics and size. Normal labium majus development (DSD), must be distinguished from many other and labium minus, topic urethral meatus and vaginal vestibule in diseases that affect the clitoral structure in children. the anatomical position (Fig. 1aec). This study aimed to report the occurrence of anomalies that The child underwent cosmetic surgery of the clitoral hood and affect the clitoris, by enlarging it, with no corresponding hyper- all excess tissue was removed. The anatomopathological study trophies of the erectile bodies or glans that characterize the CMG revealed skin fragment containing stromal fibrosis with rich itself, and with no endocrine or genetic etiology. vascularization, predominantly lymphatic; moderate mono- nuclear inflammatory infiltrate permeated, with plasmocytes 1. Case reports predominating. Such infiltrate, of lichenoid aspect, tended to be located around the vessels in the subepidermal region. The his- 1.1. Case 1 tological condition was compatible with lymphoangiofibroma in the clitoral region. After a 9-year follow-up, the child has had no G.P.V., 10 years, referred to the pediatric urology outpatient recurrence of the anomaly and maintains an adequate esthetic department by the endocrinologist, had a history of itching and aspect of the vulva.

q This is an open-access article distributed under the terms of the Creative Commons Attribution-NonCommercial-No Derivative Works License, which per- 1.2. Case 2 mits non-commercial use, distribution, and reproduction in any medium, provided the original author and source are credited. N.K.N.U., 2 years, whose parents noticed alteration of the vulva * Corresponding author. Rua Maria José Martins Ferreira, 453, Qd 20 Lt 11, Resi- four months prior to her first visit. The pediatrician referred the dencial Márcia, São José do Rio Preto, São Paulo CEP 15061-817, Brazil. Tel.: þ55 17 97757461. child for the endocrinologist to investigate DSD, but hormonal E-mail addresses: [email protected], [email protected] (A.L. Gomes). investigation revealed normal values. Physical examination

2213-5766/$ e see front matter Ó 2013 The Authors. Published by Elsevier Inc. All rights reserved. http://dx.doi.org/10.1016/j.epsc.2013.11.003 404 A.L. Gomes et al. / J Ped Surg Case Reports 1 (2013) 403e405

Fig. 1. (a) Enlarged clitoral hood, particularly in its dorsal portion, (b) with preserved glans and erectile tissue and (c) postoperative. showed a cyst formation on the clitoral body, with well defined acne or change to the voice characteristics. Prior to assessment limits and no adherence to deeper planes. The anterior commis- by the surgical team all girls were assessed by the endocrinol- sure of labia majora was drawn apart, but the labia minora, ureteral ogist and investigated for their hormonal levels of 17 alpha- meatus and vaginal vestibule were normal and in the anatomical hydroxyprogesterone, androstenedione, dehydroepiandrosterone position (Fig. 2aec). sulfate, luteinizing hormone, follicle-stimulanting hormone and During the surgical approach a cyst was found under the hood testosterone, with all values found to be within the limits of skin, however, in an anatomical plane superficial to the clitoral normality. X-ray for bone investigation was also compatible with body, with a fibrous trajectory toward the pubic periosteum. The the chronological age in all children. anatomopathological report described a cystic structure covered by keratinized squamous epithelium, associated with the reactive 2. Discussion fibrosis, compatible with epidermoid cyst.

Clitoromegaly is defined as the measurement of the clitoral 1.3. Case 3 index (width length, in millimeters) larger than 15 mm2 in the newborn or over 21 mm2 in adults [2]. However, some diseases A.V.S.S., 1 year, prior history of congenital lymph edema of the affect either the vulva or the clitoral hood without affecting the lower limbs associated with enlarged clitoris, observed by the body, thus mimicking a CMG [3]. pediatricians from birth. Hormonal investigation showed normal Clinical conditions affecting external genitalia usually bring values. Physical examination revealed diffuse enlargement of the great anxiety to the patient, their families and to the health pro- clitoris with a thick hood, measuring approximately 4 cm in fessionals not familiarized with such diseases. Clitoromegalies length; at palpation, the clitoral body had normal size and may result from different clinical conditions, but most of the morphology; urethral meatus and vaginal introitus in the times clitoral enlargement is related to the DSDs of the 46,XX type, anatomical position (Fig. 3aec). in particular congenital adrenal hyperplasia or even ovarian- The patient underwent cosmetic clitoral surgery with excess testicular DSD; however, differential diagnosis must also be made skin removed, and a satisfactory esthetic outcome. The anato- through exogenous exposure to androgens, tumors of the supra- mopathological result revealed a soft fibroma. renal gland, ovarian tumors, polycystic ovaries syndrome or other All families complained about their eagerness for comments diseases that affect the vulva and the clitoral hood, however, with on the possible lack of definition in regard to the child’sgender, no commitment to its erectile body and with no relation with but none of the three girls had inadequate distribution of hair, inadequate hormone production or gonadal or chromosomal

Fig. 2. (a, b) Cyst with well defined limits on the clitoral body and anterior commissure of labia majora drawn apart. Normal labia minora, urethral meatus and vaginal vestibulum. (c) Postoperative. A.L. Gomes et al. / J Ped Surg Case Reports 1 (2013) 403e405 405

Fig. 3. (a, b) Diffuse thickening of the clitoral hood; at palpation the clitoral body had normal size and morphology. Urethral meatus and vaginal introitus in the anatomical position. (c) Postoperative.

alteration, mimicking a CMG [4,5]. Usually, anamnesis and a investigation, early surgical correction provides an adequate properly performed physical examination will bring the doctor esthetic aspect of the vulva and lessens the family’sandthepa- close to the diagnosis. tient’sanxiety. Although such clitoral anomalies or tumors are rarely reported in children, they are present within an ample spectrum. Benign Conflict of interest statement anomalies, which are the ones mostly reported, include fibroma, None. No financial disclosures. leiomyoma, angiokeratoma, pseudolymphoma, hemangioma, hemangiopericytoma, myiasis, granular cell tumors and neurofi- References bromas, besides cystic lesions [6e11]. Whereas malignancies include carcinoma, endodermal sinus tumor, sarcoma, rhabdo- [1] Merali HS, Gargollo PC, Diamond DA. Treatment of clitoromegaly of culturally myosarcoma, schwannoma, epitheloid hemangioendothelioma diverse patients. J Pediatr Urol 2009;5:292e6. and lymphoma [12,13]. [2] Bruni V, Pontello V, Dei M, Alessandrini M, Li Marzi V, Nicita G. Hemangioma As previously pointed out, all children in this series were of the clitoris presenting as clitoromegaly: a case report. J Pediatr Adolesc Gynecol 2009;22:e137e8. assessed by an endocrinologist and had their hormone levels [3] Yigiter M, Arda IS, Tosun E, Çelik M, Hiçsönmez A. Angiokeratoma of clitoris: a investigated before they were assessed by the surgical team. At rare lesion in an adolescent girl. Urology 2008;71:604e6. the first visit, after gaining the history of the evolution of the [4] Linck D, Hayes MF. Clitoral cyst as a cause of ambiguous genitalia. Obstet Gynecol 2002;99:963e6. disease and following physical examination, the families were [5] Aggarwal SK, Manchanda V, Pant N. Epidermoid cyst of clitoris mimicking immediately told that it was not a case of genital ambiguity and clitoromegaly. J Indian Assoc Pediatr Surg 2010;15:23e4. that the gender was correctly defined, and any claim for karyo- [6] Geramizadeh B, Anbardar MH, Shakeri S. Clitoromegaly caused by cavernous hemangioma: a rare case report and review of the literature. Urol Ann 2012;4: type tests or other more sophisticated imaging tests, costly and, 175e7. sometimes, harmful and time consuming, was found to be un- [7] Brock III JW, Morgan W, Anderson TL. Congenital hemangiopericytoma of the necessary, which allowed the patients to promptly be referred for clitoris. J Urol 1995;153:468e9. [8] Kudur M, Pooja M, Nayak S. Unusual presentation of cutaneous myiasis. Indian surgical treatment. J Dermatol Venereol Leprol 2010;76:712e4. Surgery is the treatment of choice for the anomalies affecting the [9] Pascual-Castroviejo I, Lopez-Pereira P, Savasta S, Lopez-Gutierrez JC, Lago CM, clitoris, aiming to provide an esthetic aspect as close as possible to Cisternino M. Neurofibromatosis type 1 with external genitalia involvement presentation of 4 patients. J Pediatr Surg 2008;43:1998e2003. normal, in addition to preserving the vascular provisions and [10] Çelik N, Yalçin S, Güçer S, Karnak I. Clitoral epidermoid cyst secondary to blunt clitoral innervation, which are essential conditions for sexual ac- trauma in 9-year-old child. Turk J Pediatr 2011;53:108e10. tivity in the future [14]. Early surgical approach to those “clitoral [11] Maor-Sagie E, Arbell D, Prus D, Israel E, Benshushan A. Pilonidal cyst involving e anomalies” may prevent a great deal of embarrassment for the the clitoris in an 8-year-old girl a case report and literature review. J Pediatr Surg 2010;45:e27e9. patients and their family and it should not be postponed in favor of [12] Gazic B, Sramek-Zatler S, Repse-Fokter A, Pizem S. Pilomatrix carcinoma of the investigations and time consuming complementary exams [15]. clitoris. Int J Surg Pathol 2011;19:827e30. [13] Al-Tonbary Y, Zalata K, Sarhan M, El-Ashery R, Fouda A. Rhabdomyosarcoma of the clitoris. Hematol Oncol Stem Cell Ther 2008;1:133e5. 3. Conclusion [14] Johnson LT, Lara-Torre E, Murchison A, Garcia EM. Large epidermal cyst of the clitoris: a novel diagnostic approach to assist in surgical removal. J Pediatr Although acquired clitoral diseases are rarely found, differen- Adolesc Gynecol 2013;26:e33e5. [15] Mandal S, Dhingra K, Gupta P, Khurana N. Acquired (idiopathic) intradermal tial diagnosis of CMGs can be made based on careful anamnesis nevus with junctional activity presenting as clitoromegaly in a child: report of and physical examination. Following a brief preoperative a case. Eur J Pediatr 2009;168:1405e7.