Details
The mother is 33 years old. This is her first pregnancy. Maternal screening demonstrated an elevated serum alpha fetoprotein. Anatomy ultrasound demonstrated horseshoe kidneys, a small omphalocele and a diaphragmatic hernia. Ultrasound here at 19 weeks gestational age demonstrated the stomach in the left thorax with rightward displacement of the heart. The pregnancy was interrupted at 21 weeks gestational age.
Simpson-Golabi-Behmel syndrome (SGBS) is a rare X-linked recessive disorder. It is characterized by pre- and postnatal overgrowth, craniofacial anomalies, skeletal and hand anomalies, macroglossia, genitourinary abnormalities and supernumerary nipples. Patients with SGBS also exhibit a predisposition to develop embryonal tumours, especially Wilms’ tumour. The main gene identified to cause SGBS is Glypican 3 (GPC3) and is located on the X chromosome on Xq26.
In this syndrome, Wilms’ tumour (nephroblastoma) is common. However, in this case, the finding is nephroblastomatosis, a proliferation of the blastemal component which is considered a precursor to Wilm’s tumour.
The overall findings in this fetus included increased growth parameters, congenital diaphragmatic hernia, nephroblastomatosis, and ovotestes.
This slide shows H&E stain of kidney. See Related Content section for other stains, ovotestis slides, and specimen photograph:
Kidney H&E stain: LMP84774
Ovotetis H&E stain: LMP37423
Ovotestis IHC androgen receptor: LMP92175
Ovotestis IHC calretinin: LMP88586
Ovotestis IHC inhibin: LMP37149
Ovotestis IHC placental alkaline phosphatase: LMP38677
Specimen Photograph: LMP10920
Details
The mother is 33 years old. This is her first pregnancy. Maternal screening demonstrated an elevated serum alpha fetoprotein. Anatomy ultrasound demonstrated horseshoe kidneys, a small omphalocele and a diaphragmatic hernia. Ultrasound here at 19 weeks gestational age demonstrated the stomach in the left thorax with rightward displacement of the heart. The pregnancy was interrupted at 21 weeks gestational age.
Simpson-Golabi-Behmel syndrome (SGBS) is a rare X-linked recessive disorder. It is characterized by pre- and postnatal overgrowth, craniofacial anomalies, skeletal and hand anomalies, macroglossia, genitourinary abnormalities and supernumerary nipples. Patients with SGBS also exhibit a predisposition to develop embryonal tumours, especially Wilms’ tumour. The main gene identified to cause SGBS is Glypican 3 (GPC3) and is located on the X chromosome on Xq26.
In this syndrome, Wilms’ tumour (nephroblastoma) is common. However, in this case, the finding is nephroblastomatosis, a proliferation of the blastemal component which is considered a precursor to Wilm’s tumour.
The overall findings in this fetus included increased growth parameters, congenital diaphragmatic hernia, nephroblastomatosis, and ovotestes.
This slide shows H&E stain of kidney. See Related Content section for other stains, ovotestis slides, and specimen photograph:
Kidney H&E stain: LMP91472
Ovotetis H&E stain: LMP37423
Ovotestis IHC androgen receptor: LMP92175
Ovotestis IHC calretinin: LMP88586
Ovotestis IHC inhibin: LMP37149
Ovotestis IHC placental alkaline phosphatase: LMP38677
Specimen Photograph: LMP10920
Details
The mother is 33 years old. This is her first pregnancy. Maternal screening demonstrated an elevated serum alpha fetoprotein. Anatomy ultrasound demonstrated horseshoe kidneys, a small omphalocele and a diaphragmatic hernia. Ultrasound here at 19 weeks gestational age demonstrated the stomach in the left thorax with rightward displacement of the heart. The pregnancy was interrupted at 21 weeks gestational age.
Simpson-Golabi-Behmel syndrome (SGBS) is a rare X-linked recessive disorder. It is characterized by pre- and postnatal overgrowth, craniofacial anomalies, skeletal and hand anomalies, macroglossia, genitourinary abnormalities and supernumerary nipples. Patients with SGBS also exhibit a predisposition to develop embryonal tumours, especially Wilms’ tumour. The main gene identified to cause SGBS is Glypican 3 (GPC3) and is located on the X chromosome on Xq26.
This fetus also had gonads with an indeterminate appearance on gross examination, corresponding histologically to gonads with both ovarian and testicular differentiation (“ovotestes”).
The overall findings in this fetus included increased growth parameters, congenital diaphragmatic hernia, nephroblastomatosis, and ovotestes.
This slide shows PLAP stain, highlighting germ cell components. See Related Content section for other stains, specimen photograph and kidney slides:
Kidney H&E stain: LMP91472
Kidney H&E stain: LMP84774
Ovotetis H&E stain: LMP37423
Ovotestis IHC androgen receptor: LMP92175
Ovotestis IHC calretinin: LMP88586
Ovotestis IHC inhibin: LMP37149
Specimen Photograph: LMP10920
Details
The mother is 33 years old. This is her first pregnancy. Maternal screening demonstrated an elevated serum alpha fetoprotein. Anatomy ultrasound demonstrated horseshoe kidneys, a small omphalocele and a diaphragmatic hernia. Ultrasound here at 19 weeks gestational age demonstrated the stomach in the left thorax with rightward displacement of the heart. The pregnancy was interrupted at 21 weeks gestational age.
Simpson-Golabi-Behmel syndrome (SGBS) is a rare X-linked recessive disorder. It is characterized by pre- and postnatal overgrowth, craniofacial anomalies, skeletal and hand anomalies, macroglossia, genitourinary abnormalities and supernumerary nipples. Patients with SGBS also exhibit a predisposition to develop embryonal tumours, especially Wilms’ tumour. The main gene identified to cause SGBS is Glypican 3 (GPC3) and is located on the X chromosome on Xq26.
This fetus also had gonads with an indeterminate appearance on gross examination, corresponding histologically to gonads with both ovarian and testicular differentiation (“ovotestes”).
The overall findings in this fetus included increased growth parameters, congenital diaphragmatic hernia, nephroblastomatosis, and ovotestes.
This slide shows calretinin stain, highlighting sex-cord stromal elements. See Related Content section for other stains, specimen photograph and kidney slides:
Kidney H&E stain: LMP91472
Kidney H&E stain: LMP84774
Ovotetis H&E stain: LMP37423
Ovotestis IHC androgen receptor: LMP92175
Ovotestis IHC inhibin: LMP37149
Ovotestis IHC placental alkaline phosphatase: LMP38677
Specimen Phtograph: LMP10920
Details
The mother is 33 years old. This is her first pregnancy. Maternal screening demonstrated an elevated serum alpha fetoprotein. Anatomy ultrasound demonstrated horseshoe kidneys, a small omphalocele and a diaphragmatic hernia. Ultrasound here at 19 weeks gestational age demonstrated the stomach in the left thorax with rightward displacement of the heart. The pregnancy was interrupted at 21 weeks gestational age.
Simpson-Golabi-Behmel syndrome (SGBS) is a rare X-linked recessive disorder. It is characterized by pre- and postnatal overgrowth, craniofacial anomalies, skeletal and hand anomalies, macroglossia, genitourinary abnormalities and supernumerary nipples. Patients with SGBS also exhibit a predisposition to develop embryonal tumours, especially Wilms’ tumour. The main gene identified to cause SGBS is Glypican 3 (GPC3) and is located on the X chromosome on Xq26.
This fetus also had gonads with an indeterminate appearance on gross examination, corresponding histologically to gonads with both ovarian and testicular differentiation (“ovotestes”).
The overall findings in this fetus included increased growth parameters, congenital diaphragmatic hernia, nephroblastomatosis, and ovotestes.
This slide shows inhibin stain, highlighting sex-cord stromal elements. See Related Content section for other stains, specimen photograph and kidney slides:
Kidney H&E stain: LMP91472
Kidney H&E stain: LMP84774
Ovotetis H&E stain: LMP37423
Ovotestis IHC androgen receptor: LMP92175
Ovotestis IHC calretinin stain: LMP88586
Ovotestis IHC placental alkaline phosphatase: LMP38677
Specimen Photograph: LMP10920
Details
The mother is 33 years old. This is her first pregnancy. Maternal screening demonstrated an elevated serum alpha fetoprotein. Anatomy ultrasound demonstrated horseshoe kidneys, a small omphalocele and a diaphragmatic hernia. Ultrasound here at 19 weeks gestational age demonstrated the stomach in the left thorax with rightward displacement of the heart. The pregnancy was interrupted at 21 weeks gestational age.
Simpson-Golabi-Behmel syndrome (SGBS) is a rare X-linked recessive disorder. It is characterized by pre- and postnatal overgrowth, craniofacial anomalies, skeletal and hand anomalies, macroglossia, genitourinary abnormalities and supernumerary nipples. Patients with SGBS also exhibit a predisposition to develop embryonal tumours, especially Wilms’ tumour. The main gene identified to cause SGBS is Glypican 3 (GPC3) and is located on the X chromosome on Xq26.
This fetus also had gonads with an indeterminate appearance on gross examination, corresponding histologically to gonads with both ovarian and testicular differentiation (“ovotestes”).
The overall findings in this fetus included increased growth parameters, congenital diaphragmatic hernia, nephroblastomatosis, and ovotestes.
This slide shows androgen receptor stain, highlighting testicular elements. See Related Content section for other stains, specimen photograph and kidney slides:
Kidney H&E stain: LMP91472
Kidney H&E stain: LMP84774
Ovotetis H&E stain: LMP37423
Ovotestis IHC calretinin stain: LMP88586
Ovotestis IHC inhibin: LMP37149
Ovotestis IHC placental alkaline phosphatase: LMP38677
Specimen Photograph: LMP10920
Details
The mother is 33 years old. This is her first pregnancy. Maternal screening demonstrated an elevated serum alpha fetoprotein. Anatomy ultrasound demonstrated horseshoe kidneys, a small omphalocele and a diaphragmatic hernia. Ultrasound here at 19 weeks gestational age demonstrated the stomach in the left thorax with rightward displacement of the heart. The pregnancy was interrupted at 21 weeks gestational age.
Simpson-Golabi-Behmel syndrome (SGBS) is a rare X-linked recessive disorder. It is characterized by pre- and postnatal overgrowth, craniofacial anomalies, skeletal and hand anomalies, macroglossia, genitourinary abnormalities and supernumerary nipples. Patients with SGBS also exhibit a predisposition to develop embryonal tumours, especially Wilms’ tumour. The main gene identified to cause SGBS is Glypican 3 (GPC3) and is located on the X chromosome on Xq26.
This fetus also had gonads with an indeterminate appearance on gross examination, corresponding histologically to gonads with both ovarian and testicular differentiation (“ovotestes”).
The overall findings in this fetus included increased growth parameters, congenital diaphragmatic hernia, nephroblastomatosis, and ovotestes.
This slide shows H&E stain. See Related Content section for other stains, specimen photograph and kidney slides:
Kidney H&E stain: LMP91472
Kidney H&E stain: LMP84774
Ovotestis IHC androgen receptor: LMP92175
Ovotestis IHC calretinin stain: LMP88586
Ovotestis IHC inhibin: LMP37149
Ovotestis IHC placental alkaline phosphatase: LMP38677
Specimen Photograph: LMP10920
Details
The mother is 33 years old. This is her first pregnancy. Maternal screening demonstrated an elevated serum alpha fetoprotein. Anatomy ultrasound demonstrated horseshoe kidneys, a small omphalocele and a diaphragmatic hernia. Ultrasound here at 19 weeks gestational age demonstrated the stomach in the left thorax with rightward displacement of the heart. The pregnancy was interrupted at 21 weeks gestational age.
Simpson-Golabi-Behmel syndrome (SGBS) is a rare X-linked recessive disorder. It is characterized by pre- and postnatal overgrowth, craniofacial anomalies, skeletal and hand anomalies, macroglossia, genitourinary abnormalities and supernumerary nipples. Patients with SGBS also exhibit a predisposition to develop embryonal tumours, especially Wilms’ tumour. The main gene identified to cause SGBS is Glypican 3 (GPC3) and is located on the X chromosome on Xq26.
This fetus also had gonads with an indeterminate appearance on gross examination, corresponding histologically to gonads with both ovarian and testicular differentiation (“ovotestes”).
The overall findings in this fetus included increased growth parameters, congenital diaphragmatic hernia, nephroblastomatosis, and ovotestes.
This is a specimen photograph. See Related Content section for ovotestes slides and kidney slides:
Kidney H&E stain: LMP91472
Kidney H&E stain: LMP84774
Ovotetis H&E stain: LMP37423
Ovotestis IHC androgen receptor: LMP92175
Ovotestis IHC calretinin stain: LMP88586
Ovotestis IHC inhibin: LMP37149
Ovotestis IHC placental alkaline phosphatase: LMP38677