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Presented by Peter Illei, M.D. and prepared by Danielle Wehle, M.D.
Case 1: The patient is a 15 year-old male hermaphrodite who was raised in the female sex.
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1. Question
Week 284: Case 1
The patient is a 15 year-old male hermaphrodite who was raised in the female sex. She has congenital nephropathy secondary to Denys-Drash syndrome and had a renal transplant at age 2. Currently, she presented with persistently elevated testosterone levels despite prior laparoscopic gonadectomy (testicular tissue was removed from the left side). She was brought to the operating room for laparoscopic exploration of the pelvis to identify remnant gonadal tissue. During surgery, a Mullerian remnant was found attached to the vagina and adhering to the midline interior abdominal wall. Attached to this and to the dome of the bladder on the right side was a nodular structure that was considered part of the remnant and was removed. Histology of this lesion is shown on the images.images/pbi925061a.jpg
images/pbi925061b.jpg
images/pbi925061c.jpgCorrect
Answer: Rudimentary uterus
Histology: Sections show a hollow structure with a relatively thick muscular wall and inner lumen that is lined by cuboidal (endometrial) and focally by mucinous columnar (endocervical) epithelium. These features are consistent with a rudimentary uterus. Denys-Drash syndrome (DDS) is a rare disorder consisting of the triad of cogenital nephropathy, Wilms tumor, and intersex disorders. It is caused by mutations in the Wilms tumor suppressor 1 (WT1) gene. Nephropathy is a constant feature of the syndrome and is associated with Wilms tumor and/or intersex disorders. This condition manifests clinically as an early onset nephrotic syndrome and progresses to renal failure during the first three years of life. Among the intersex disorders, pure gonadal dysgenesis in male pseudohermapharoditism is a classic presentation, although a wide variety of abnormalities in gonadal differentiation can be encountered. More than 95 % of patients with a clinical diagnosis of DDS have been found to carry a mutation in the WT1 gene. The vast majority of these mutations are changes in axons 9 or 8, which encode for the zinc fingers 3 and 2, respectively. The axon 9 amino acid, Argenine-394, critical in the DNA binding activity of the WT1 protein, is considered a mutational hotspot for Denys-Drash syndrome.
Discussion: These features are consistent with a rudimentary uterus. Denys-Drash syndrome (DDS) is a rare disorder consisting of the triad of cogenital nephropathy, Wilms tumor, and intersex disorders. It is caused by mutations in the Wilms tumor suppressor 1 (WT1) gene. Nephropathy is a constant feature of the syndrome and is associated with Wilms tumor and/or intersex disorders. This condition manifests clinically as an early onset nephrotic syndrome and progresses to renal failure during the first three years of life. Among the intersex disorders, pure gonadal dysgenesis in male pseudohermapharoditism is a classic presentation, although a wide variety of abnormalities in gonadal differentiation can be encountered. More than 95 % of patients with a clinical diagnosis of DDS have been found to carry a mutation in the WT1 gene. The vast majority of these mutations are changes in axons 9 or 8, which encode for the zinc fingers 3 and 2, respectively. The axon 9 amino acid, Argenine-394, critical in the DNA binding activity of the WT1 protein, is considered a mutational hotspot for Denys-Drash syndrome.
Typical histologic findings include angiosclerosis of the kidney, abnormal ovary containing primordial Mullerian and Wolffian ducts, streak gonad with ovarian type stroma lacking primordial follicles and testis with primitive canalicular seminiferous tubules or atrophic intra abdominal testes.Incorrect
Answer: Rudimentary uterus
Histology: Sections show a hollow structure with a relatively thick muscular wall and inner lumen that is lined by cuboidal (endometrial) and focally by mucinous columnar (endocervical) epithelium. These features are consistent with a rudimentary uterus. Denys-Drash syndrome (DDS) is a rare disorder consisting of the triad of cogenital nephropathy, Wilms tumor, and intersex disorders. It is caused by mutations in the Wilms tumor suppressor 1 (WT1) gene. Nephropathy is a constant feature of the syndrome and is associated with Wilms tumor and/or intersex disorders. This condition manifests clinically as an early onset nephrotic syndrome and progresses to renal failure during the first three years of life. Among the intersex disorders, pure gonadal dysgenesis in male pseudohermapharoditism is a classic presentation, although a wide variety of abnormalities in gonadal differentiation can be encountered. More than 95 % of patients with a clinical diagnosis of DDS have been found to carry a mutation in the WT1 gene. The vast majority of these mutations are changes in axons 9 or 8, which encode for the zinc fingers 3 and 2, respectively. The axon 9 amino acid, Argenine-394, critical in the DNA binding activity of the WT1 protein, is considered a mutational hotspot for Denys-Drash syndrome.
Discussion: These features are consistent with a rudimentary uterus. Denys-Drash syndrome (DDS) is a rare disorder consisting of the triad of cogenital nephropathy, Wilms tumor, and intersex disorders. It is caused by mutations in the Wilms tumor suppressor 1 (WT1) gene. Nephropathy is a constant feature of the syndrome and is associated with Wilms tumor and/or intersex disorders. This condition manifests clinically as an early onset nephrotic syndrome and progresses to renal failure during the first three years of life. Among the intersex disorders, pure gonadal dysgenesis in male pseudohermapharoditism is a classic presentation, although a wide variety of abnormalities in gonadal differentiation can be encountered. More than 95 % of patients with a clinical diagnosis of DDS have been found to carry a mutation in the WT1 gene. The vast majority of these mutations are changes in axons 9 or 8, which encode for the zinc fingers 3 and 2, respectively. The axon 9 amino acid, Argenine-394, critical in the DNA binding activity of the WT1 protein, is considered a mutational hotspot for Denys-Drash syndrome.
Typical histologic findings include angiosclerosis of the kidney, abnormal ovary containing primordial Mullerian and Wolffian ducts, streak gonad with ovarian type stroma lacking primordial follicles and testis with primitive canalicular seminiferous tubules or atrophic intra abdominal testes.
