Idiopathic isolated clitoromegaly: A report of two cases
© Copcu et al; licensee BioMed Central Ltd. 2004
Received: 17 June 2004
Accepted: 04 October 2004
Published: 04 October 2004
Clitoromegaly is a frequent congenital malformation, but acquired clitoral enlargement is relatively rare.
Two acquired clitoromegaly cases treated in Atatürk Training Hospital, Izmir, Turkey are presented.
History from both patients revealed clitoromegaly over the last three years. Neither gynecological nor systemic abnormalities were detected in either patient. Karyotype analyses and hormonal tests were normal. Abdominal and gynaecological ultrasound did not show any cystic lesion or other abnormal finding. Computerized tomography scan of the adrenal glands was normal. Clitoroplasty with preservation of neurovascular pedicles was performed for the treatment of clitoromegaly.
The patients were diagnosed as "idiopathic isolated" clitoromegaly. To the best of our knowledge, there has been no detailed report about idiopathic clitoromegaly in the literature.
Two cases with clitoromegaly were treated in Atatürk Training Hospital, Izmir, Turkey.
Karyotype analysis was done in both cases and reported as 46, XX. Results of routine laboratory tests were normal. In addition, serum electrolytes, oestradiol, sex hormone binding globulin (SHBG), testosterone, androstenedione, dehydroepiandrosterone sulphate (DHEA-S), follicule stimulating hormone (FSH), luteinizing hormone (LH), 17 hydroxy progesterone (17-OH-P), prolactin, adrenocorticotropic hormone (ACTH), cortisol, placental lactogen (PL), deoxycorticosterone, deoxycortisol 11, triiodothyronine (T3), thyroxine (T4), thyroid stimulating hormone (TSH), beta-human chorionic gonadotrophin (β-hCG), carcinoembryonic antigen (CEA) were measured before the operations and the results were normal. 17-ketosteroid output in 24-hour-urine specimen was normal in both patients. Abdominal and gynecological ultrasound did not show any cystic lesion or abnormal finding. Computed tomography scan of the adrenal glands was normal.
No abnormality suggestive of a possible relation to clitoromegaly was found in all laboratory and radiological tests.
Patients were followed up for one year after the operation. There was no early or late post-operative complication. Sensation was normal and patients were satisfied with the aesthetical and functional results.
Classification of the clitoromegaly based on causative factors
Causative factors of clitoromegaly
A. Hormonal conditions
2. Masculinizing tumors
3. Exposure to the androgens
B. Non-Hormonal conditions
2. Epidermoid cysts
Endocrinopathies, masculinizing tumors, exposure to the androgens and various syndromes are the main hormonal causes of clitoromegaly. The most common cause is female pseudohermaphroditism secondary to congenital adrenal hyperplasia (CAH) or adrenogenital syndrome, caused by an enzyme defect in the normal pathway of steroid biosynthesis . Virilization of the external genitalia may cause profound clitoromegaly but rarely causes formation of a true penile urethra. However, clitoromegaly may be accompanied by fusion of the labioscrotal folds and perineoscrotal hypospadias, and a persistence of the urogenital sinus closing the external opening of the vagina .
Bilateral hilus cell tumors of the ovary, steroid producing gonadal tumors, adrenal androgen-secreting carcinoma, Leydig cell tumor of the ovaries and metastatic carcinosarcoma of the urinary bladder have been reported to cause clitoromegaly [6–9].
Fetal exposure to danazol has been described as cause for clitoromegaly . An interesting case was reported by Akcam and Topaloglu of clitoromegaly possibly following blood transfusion from an adult in a premature infant .
Among the non-hormonal conditions are neurofibromatosis (NF), epidermoid cysts, various syndromes and nevus lipomatous cutaneous superficialis. The majority of clitoromegaly cases related to NF are congenital.
Clitoral cysts arise from epidermis displaced into the dermis or the subcutaneous tissue either during the prenatal period or after a trauma.
Various syndromes resulting from non-hormonal conditions may cause clitoromegaly. Kazlauskaite et al reported a case diagnosed as congenital generalized lipodystrophy (CGL) presenting with generalized body-fat loss, prominent musculature, hepatomegaly, clitoromegaly and mild hirsutism . CGL is an autosomal recessive disorder characterized by severe metabolic derangement associated with the absence of subcutaneous adipose tissue and clitoromegaly. Turner syndrome (TS) is a chromosomal disorder in females and results from a partial or complete loss of an X chromosome. Abnormalities include short stature and gonadal dysgenesis. Haddad et al presented a case of clitoromegaly and TS . Fraser syndrome is another rare cause of clitoromegaly .
Androgen insensitivity syndrome is a heterogeneous disorder with a wide spectrum of phenotypic abnormalities, ranging from a complete female phenotype to ambiguous forms that more closely resemble males. The primary abnormality is a defective androgen receptor protein due to mutation of the androgen receptor gene.
Nevus lipomatous cutaneous superficialis (NLCS) is a relatively rare condition characterized by groups of ectopic fat cells dispersed in various parts of the body  that may cause clitoromegaly when located on the clitoris.
Pseudohypertrophy of the clitoris has been reported in small girls due to masturbation: manipulations of the skin of prepuce leads to repeated mechanical trauma, which expands the prepuce and labia minora, thus imitating true clitoral enlargement .
The objectives of clitoroplasty are preservation of sexual arousal function and sensation, and cosmetic. Historically, until 1960s, clitoral hypertrophy was treated surgically by amputation (clitoridectomy). Surgical methods for correction of clitoral hypertrophy were first described in 1934 by Young, who performed an operation for clitoral reduction in a child with CAH . Several clitoroplasty methods have been reported, but few describe preservation of dorsal and ventral neurovascular bundles in sexually mature women. Clitoroplasty with preservation of the neurovascular pedicle may be the optimal operative technique for the treatment of clitoromegaly.
Written informed consent was obtained from both patients
- Papageorgiou T, Hearns-Stokes R, Peppas D, Segars JH: Clitoroplasty with preservation of neurovascular pedicles. Obstet Gynecol. 2000, 96: 821-823. 10.1016/S0029-7844(00)01031-0.View ArticlePubMed
- Horejsi J: Acquired clitoral enlargement. Diagnosis and treatment. Ann N Y Acad Sci. 1997, 816: 369-372.View ArticlePubMed
- Linck D, Hayes MF: Clitoral cyst as a cause of ambiguous genitalia. Obstet Gynecol. 2002, 99: 963-966. 10.1016/S0029-7844(02)01967-1.View ArticlePubMed
- Bellinger MF: Feminizing genitoplasty and vaginoplasty. In: Reconstructive and Plastic Surgery of the External Genitelia. Edited by: Ehrlich RM, Alter GJ. 1999, Philadelphia, WB Saunders, 263-1
- Wilson JD: Formation of sexual phenotypes. The Endocrinologist. 2003, 13: 205-207.View Article
- Baramki TA, Leddy AL, Woodruff JD: Bilateral hilus cell tumors of the ovary. Obstet Gynecol. 1983, 62: 128-131.PubMed
- Castelazo-Ayala L, Zarate A, Mac Gregor C, Soria J, Dominguez O: Steroid production by gonadal tumors in male pseudo-hermaphroditism with isolated clitoromegaly. Biochemical studies in vivo. Steroidologia. 1971, 2: 138-142.PubMed
- Falsetti L, Salinaro F, Chiaramonte M: Adrenal androgen-secreting carcinoma in a fertile woman. Acta Eur Fertil. 1995, 26: 117-121.PubMed
- Ichinohasama R, Teshima S, Kishi K, Mukai K, Tsunematsu R, Ishii-Ohba H, Shimosato Y: Leydig cell tumor of the ovary associated with endometrial carcinoma and containing 17 beta-hydroxysteroid dehydrogenase. Int J Gynecol Pathol. 1989, 8: 64-71.View ArticlePubMed
- Brunskill PJ: The effects of fetal exposure to danazol. Br J Obstet Gynaecol. 1992, 99: 212-215.View ArticlePubMed
- Akcam M, Topaloglu A: Extremely immature infant who developed clitoromegaly during the second month of her postnatal life probably due to frequent whole blood transfusion from an adult male. Pediatr Int. 2003, 45: 347-348.View ArticlePubMed
- Yuksel H, Odabasi AR, Kafkas S, Onur E, Turgut M: Clitoromegaly in type 2 neurofibromatosis: a case report and review of the literature. Eur J Gynaecol Oncol. 2003, 24: 447-451.PubMed
- Kazlauskaite R, Santomauro AT, Goldman J, Silver K, Snitker S, Beamer BA, Yen CJ, Shuldiner AR, Wajchenberg BL: A case of congenital generalized lipodystrophy: metabolic effects of four dietary regimens. Lack of association of CGL with polymorphism in the lamin A/C Gene. Clin Endocrinol (Oxf). 2001, 54: 412-414. 10.1046/j.1365-2265.2001.1216c.x.View Article
- Chattopadhyay A, Kher AS, Udwadia AD, Sharma SV, Bharucha BA, Nicholson AD: Fraser syndrome. J Postgrad Med. 1993, 39: 228-230.PubMed
- Haddad NG, Vance GH, Eugster EA, Davis MM, Kaefer M: Turner syndrome (45x) with clitoromegaly. J Urol. 2003, 170: 1355-1356. 10.1097/01.ju.0000085983.81063.3f.View ArticlePubMed
- Hattori R, Kubo T, Yano K, Tanemura A, Yamaguchi Y, Itami S, Hosokawa K: Nevus lipomatosus cutaneous superficialis of the clitoris. Dermatol Surg. 2003, 29: 1071-1072. 10.1046/j.1524-4725.2003.29306.x.PubMed
- Young HH: Genital abnormalities, hermaphroditism and related adrenal disease. 1937, Baltimore, MD: Williams & Wilkins, 103-105.
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