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Infant With Severe Penoscrotal Hypospadias: A Complex Case of Genital Ambiguity and Mistaken Identity.

التفاصيل البيبلوغرافية
العنوان: Infant With Severe Penoscrotal Hypospadias: A Complex Case of Genital Ambiguity and Mistaken Identity.
المؤلفون: Nelwan D; Urology, Medical College of Georgia at Augusta University, Augusta, USA., Mount C; Urology, Medical College of Georgia at Augusta University, Augusta, USA., Morganstern B; Urology, Medical College of Georgia at Augusta University, Augusta, USA., Chan JT; Pediatric Endocrinology, Medical College of Georgia at Augusta University, Georgia, USA.
المصدر: Cureus [Cureus] 2021 May 23; Vol. 13 (5), pp. e15191. Date of Electronic Publication: 2021 May 23.
نوع المنشور: Case Reports
اللغة: English
بيانات الدورية: Publisher: Cureus, Inc Country of Publication: United States NLM ID: 101596737 Publication Model: Electronic Cited Medium: Print ISSN: 2168-8184 (Print) Linking ISSN: 21688184 NLM ISO Abbreviation: Cureus Subsets: PubMed not MEDLINE
أسماء مطبوعة: Original Publication: Palo Alto, CA : Cureus, Inc.
مستخلص: Individuals with an incongruence of their chromosomal sex and genital appearance are classified as having a disorder of sexual development (DSD), and they often present with ambiguous genitalia. The diagnosis and management of DSD patients are usually challenging and require a multidisciplinary approach. Gender assignment should not be based solely on physical exam and imaging but also on the genotype and hormonal function of the gonads. We present an infant born with ambiguous genitalia; the parents were told they were having a male infant during the prenatal ultrasound but at birth, the infant was found to have female-appearing external genitalia with no palpable gonads. MRI of the abdomen was inconclusive, but further workup, including karyotype, hormonal function, and intraoperative evaluation, was consistent with a male infant. He was, therefore, subsequently assigned to the male sex.
Competing Interests: The authors have declared that no competing interests exist.
(Copyright © 2021, Nelwan et al.)
References: Hum Mol Genet. 1994 Jan;3(1):125-31. (PMID: 8162013)
J Clin Endocrinol Metab. 2019 Apr 1;104(4):1160-1170. (PMID: 30388241)
J Indian Assoc Pediatr Surg. 2019 Jul-Sep;24(3):162-169. (PMID: 31258263)
Arch Sex Behav. 2008 Feb;37(1):85-99. (PMID: 18157628)
J Clin Endocrinol Metab. 2002 Jan;87(1):29-32. (PMID: 11788616)
Hum Hered. 2014;77(1-4):108-17. (PMID: 25060274)
Proc Natl Acad Sci U S A. 1991 May 1;88(9):3767-71. (PMID: 2023927)
Arch Pediatr Adolesc Med. 1997 Oct;151(10):1046-50. (PMID: 9343018)
Hum Mol Genet. 1996 Sep;5(9):1269-77. (PMID: 8872466)
J Pediatr Urol. 2014 Feb;10(1):2-6. (PMID: 24528669)
Pediatrics. 2006 Aug;118(2):e488-500. (PMID: 16882788)
Horm Res. 2006;66(4):195-203. (PMID: 16877870)
فهرسة مساهمة: Keywords: ambiguous genitalia; disorders of sexual development; hypospadias; pediatric endocrinology; pediatric urology
تواريخ الأحداث: Date Created: 20210628 Latest Revision: 20210629
رمز التحديث: 20240829
مُعرف محوري في PubMed: PMC8218553
DOI: 10.7759/cureus.15191
PMID: 34178511
قاعدة البيانات: MEDLINE
الوصف
تدمد:2168-8184
DOI:10.7759/cureus.15191