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Lipomatous nevus and urethral caruncle mistaken for ambiguous genitalia in a female infant

  • Luciana Ferreira Brasileiro , Luis Antonio Violin Dias Pereira , Márcio Lopes Miranda , Leandro Luiz Lopes de Freitas , Antonia Paula Marques-de-Faria , Andrea Trevas Maciel-Guerra and Gil Guerra-Junior EMAIL logo
Published/Copyright: September 3, 2015
Journal of Pediatric Endocrinology and Metabolism
From the journal Journal of Pediatric Endocrinology and Metabolism Volume 29 Issue 2

Abstract

We report the case of a 46,XX infant referred at 3 months of age for evaluation of ambiguous genitalia with no palpable gonads. The phallus was replaced by a homogeneous peduncular structure covered by skin, and a second peduncular structure covered by mucosa was located between the labia minora above the urethral meatus and the vaginal opening. There were no associated anomalies, and she had normal growth and neuromotor development. During surgery to remove these structures, a bifid clitoris was detected and cystoscopy and vaginoscopy revealed normal female urethra and vagina. The structure located on the phallic region was a superficial lipomatous nevus, and the other mass was a congenital urethral caruncle with ectopic migration/differentiation of colonic epithelium into ventral and anterior part of the urogenital sinus. Both genital lipomas and congenital caruncles of the female urethra are very rare and their etiology is unknown. There is no previous report of coincidence of these two rare findings in an otherwise healthy girl.

Keywords: intersex; newborn; perineal lipoma; perineal mass; urethral caruncle
Corresponding author: Gil Guerra-Junior, Unit of Pediatric Endocrinology, Department of Pediatrics, School of Medicine, State University of Campinas (UNICAMP), Campinas (SP) 13083-887, Brazil, Phone: +55-19-35217353, Fax: +55-19-35217322, E-mail: ; and Interdisciplinary Group of Sex Determination and Differentiation Study (GIEDDS), School of Medicine, UNICAMP, Campinas (SP), Brazil

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Received: 2015-4-20
Accepted: 2015-7-24
Published Online: 2015-9-3
Published in Print: 2016-2-1

©2016 by De Gruyter

Articles in the same Issue

  1. Frontmatter
  2. REVIEW
  3. Obesity-associated sympathetic overactivity in children and adolescents: the role of catecholamine resistance in lipid metabolism
  4. MINI REVIEW
  5. Idiopathic infantile hypercalcemia: case report and review of the literature
  6. ORIGINAL ARTICLES
  7. Levothyroxine replacement in primary congenital hypothyroidism: the higher the initial dose the higher the rate of overtreatment
  8. Effect of auditory guided imagery on glucose levels and on glycemic control in children with type 1 diabetes mellitus
  9. Kidney injury molecule-1 and neutrophil gelatinase associated lipocalin in normoalbuminuric diabetic children
  10. Use of the triglyceride to HDL cholesterol ratio for assessing insulin sensitivity in overweight and obese children in rural Appalachia
  11. Carotid intima media thickness in obese children: is there an association with hyperlipidemia?
  12. Schoolchildren born VLBW or VLGA show height-related changes in body composition and muscle function but no evidence of metabolic syndrome risk factors. Results from the NEOLONG study
  13. Topical dihydrotestosterone to treat micropenis secondary to partial androgen insensitivity syndrome (PAIS) before, during, and after puberty – a case series
  14. Urinary myo-inositol levels in Japanese schoolchildren with normal glucose tolerance
  15. Barriers in communication and available resources to facilitate conversation about infertility with girls diagnosed with Turner syndrome
  16. Analysis of the PAX8 gene in 32 children with thyroid dysgenesis and functional characterization of a promoter variant
  17. Decrease of small dense LDL and lipoprotein-associated phospholipase A2 due to human growth hormone treatment in short children with growth hormone deficiency and small for gestational age status
  18. Rare and curable renin-mediated hypertension: a series of six cases and a literature review
  19. CASE REPORTS
  20. Vulvar fetal rhabdomyoma mimicking 46XX sex differentiation disorder
  21. Simultaneous occurrence of diabetic ketoacidosis, thyroid storm, and multiple cerebral infarctions due to Moyamoya disease
  22. Brown-Vialetto-Van Laere syndrome: two siblings with a new mutation and dramatic therapeutic effect of high-dose riboflavin
  23. Lipomatous nevus and urethral caruncle mistaken for ambiguous genitalia in a female infant
  24. Thyrotropin-secreting pituitary adenoma in an 11-year-old boy with type 1 autoimmune polyglandular syndrome
  25. Changes in facial appearance from neonate to adult in 3-M syndrome patient with novel CUL7 gene mutations
https://doi.org/10.1515/jpem-2015-0165
Keywords for this article
intersex; newborn; perineal lipoma; perineal mass; urethral caruncle

Articles in the same Issue

  1. Frontmatter
  2. REVIEW
  3. Obesity-associated sympathetic overactivity in children and adolescents: the role of catecholamine resistance in lipid metabolism
  4. MINI REVIEW
  5. Idiopathic infantile hypercalcemia: case report and review of the literature
  6. ORIGINAL ARTICLES
  7. Levothyroxine replacement in primary congenital hypothyroidism: the higher the initial dose the higher the rate of overtreatment
  8. Effect of auditory guided imagery on glucose levels and on glycemic control in children with type 1 diabetes mellitus
  9. Kidney injury molecule-1 and neutrophil gelatinase associated lipocalin in normoalbuminuric diabetic children
  10. Use of the triglyceride to HDL cholesterol ratio for assessing insulin sensitivity in overweight and obese children in rural Appalachia
  11. Carotid intima media thickness in obese children: is there an association with hyperlipidemia?
  12. Schoolchildren born VLBW or VLGA show height-related changes in body composition and muscle function but no evidence of metabolic syndrome risk factors. Results from the NEOLONG study
  13. Topical dihydrotestosterone to treat micropenis secondary to partial androgen insensitivity syndrome (PAIS) before, during, and after puberty – a case series
  14. Urinary myo-inositol levels in Japanese schoolchildren with normal glucose tolerance
  15. Barriers in communication and available resources to facilitate conversation about infertility with girls diagnosed with Turner syndrome
  16. Analysis of the PAX8 gene in 32 children with thyroid dysgenesis and functional characterization of a promoter variant
  17. Decrease of small dense LDL and lipoprotein-associated phospholipase A2 due to human growth hormone treatment in short children with growth hormone deficiency and small for gestational age status
  18. Rare and curable renin-mediated hypertension: a series of six cases and a literature review
  19. CASE REPORTS
  20. Vulvar fetal rhabdomyoma mimicking 46XX sex differentiation disorder
  21. Simultaneous occurrence of diabetic ketoacidosis, thyroid storm, and multiple cerebral infarctions due to Moyamoya disease
  22. Brown-Vialetto-Van Laere syndrome: two siblings with a new mutation and dramatic therapeutic effect of high-dose riboflavin
  23. Lipomatous nevus and urethral caruncle mistaken for ambiguous genitalia in a female infant
  24. Thyrotropin-secreting pituitary adenoma in an 11-year-old boy with type 1 autoimmune polyglandular syndrome
  25. Changes in facial appearance from neonate to adult in 3-M syndrome patient with novel CUL7 gene mutations
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