Prenatal diagnosis of 17-hydroxylase/17,20-lyase deficiency (17OHD) in a case of 46,XY sex discordance and low maternal serum estriol

2018 ◽  
Vol 8 (1) ◽  
Author(s):  
Lauren Mohnach ◽  
Sarah Mazzola ◽  
Daniel Shumer ◽  
Deborah R. Berman
Keyword(s):  
Prenatal Diagnosis ◽  
Parental Stress ◽  
Disorders Of Sex Development ◽  
Rare Condition ◽  
Maternal Serum ◽  
Diagnostic Challenge ◽  
Lyase Deficiency ◽  
Sex Development ◽  
Seamless Transition ◽  
Endocrine Profile

Abstract Background A discrepancy between the fetal karyotype and the appearance of genitalia on ultrasound can be a diagnostic challenge. In these cases, it is difficult to shorten the extensive list of differential diagnoses without information on internal anatomy and endocrine profile. Case presentation Here, we describe a diagnosis of 17-hydroxylase/17,20-lyase deficiency (17OHD), which was suspected based on low maternal serum estriol in the setting of 46,XY genitalia discordance. Through collaboration between maternal-fetal medicine and disorders of sex development (DSD) teams, the patient was counseled about the diagnosis and postnatal management plans were made. Conclusions This case illustrates how prenatal diagnosis of this rare condition led to reduced parental stress and seamless transition to postnatal care.

XY Disorders of Sex Development (DSD): A Diagnostic Challenge Linked to Candidate Gene Sequencing

2011 ◽  
pp. P3-730-P3-730
Author(s):  
Harriet Louise Miles ◽  
Trevor Ian Bunch ◽  
Vickie Mary Pilfold-Wilkie ◽  
Ngee Lek ◽  
Ieuan Arwel Hughes
Keyword(s):  
Candidate Gene ◽  
Disorders Of Sex Development ◽  
Gene Sequencing ◽  
Diagnostic Challenge ◽  
Sex Development ◽  
Candidate Gene Sequencing

scholarly journals Isolated 17,20-Lyase Deficiency in a CYB5A Mutated Female With Normal Sexual Development and Fertility

2019 ◽  
Vol 4 (2) ◽  
Author(s):  
Mei Tik Leung ◽  
Hoi Ning Cheung ◽  
Yan Ping Iu ◽  
Cheung Hei Choi ◽  
Sau Cheung Tiu ◽  
...  
Keyword(s):  
Pubertal Development ◽  
Cytochrome B5 ◽  
Disorders Of Sex Development ◽  
Normal Female ◽  
Lyase Deficiency ◽  
Sex Development ◽  
Spontaneous Pregnancy ◽  
Healthy Female ◽  
Cytochrome P450 Oxidoreductase ◽  
Microsomal Cytochrome B5

Abstract Isolated 17,20-lyase deficiency may be caused by mutations in the CYP17A1 (coding for cytochrome P450c17), POR (coding for cytochrome P450 oxidoreductase) and CYB5A (coding for microsomal cytochrome b5) genes. Of these, mutations in the CYB5A gene have thus far only been described in genetic males who presented with methemoglobinemia and 46,XY disorders of sex development (DSD) due to 17,20-lyase deficiency. A 24-year-old Chinese woman presented to the hematology outpatient clinic with purplish discoloration of fingers, toes, and lips since childhood. Investigations confirmed methemoglobinemia. A homozygous c.105C>G (p.Tyr35Ter) nonsense mutation was detected in the CYB5A gene. Hormonal studies showed isolated 17,20-lyase deficiency. Interestingly, she had a completely normal female phenotype with no DSD, normal pubertal development, and spontaneous pregnancy giving birth uneventfully to a healthy female infant. The sex hormone-related features of genetic females with 17,20-lyase deficiency due to cytochrome b5 gene mutation appear to differ from that of females with 17,20-lyase deficiency caused by other genetic defects who presented with hypergonadotropic hypogonadism and infertility and differ from genetic males with the same mutation.

scholarly journals OP12.07: The prenatal diagnosis of disorders of sex development using 2D/3D ultrasonography: a 10-case experience

2017 ◽  
Vol 50 ◽  
pp. 85-86
Author(s):  
Y. Kozuma ◽  
T. Yoshizato ◽  
M. Muto ◽  
T. Horinouchi ◽  
D. Hori ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Disorders Of Sex Development ◽  
Sex Development ◽  
3D Ultrasonography

Unbalanced Y;7 Translocation between Two Low-Similarity Sequences Leading to SRY-Positive 45,X Testicular Disorders of Sex Development

2019 ◽  
Vol 158 (3) ◽  
pp. 115-120
Author(s):  
Erika Uehara ◽  
Atsushi Hattori ◽  
Hirohito Shima ◽  
Akira Ishiguro ◽  
Yu Abe ◽  
...  
Keyword(s):  
Disorders Of Sex Development ◽  
Rare Condition ◽  
Nonhomologous End Joining ◽  
Deletion Syndrome ◽  
End Joining ◽  
Sex Development ◽  
Autosome Translocation ◽  
Fusion Junction ◽  
7Q Deletion ◽  
Flanking Regions

Unbalanced translocations of Y-chromosomal fragments harboring the sex-determining region Y gene (SRY) to the X chromosome or an autosome result in 46,XX and 45,X testicular disorders of sex development (DSD), respectively. Of these, Y;autosome translocation is an extremely rare condition. Here, we identified a 20-year-old man with a 45,X,t(Y;7)(q11.21;q35) karyotype, who exhibited unilateral cryptorchidism, small testis, intellectual disability, and various congenital anomalies. The fusion junction of the translocation was blunt, and the breakpoint-flanking regions shared only 50% similarity. These results indicate that Y;autosome translocations can occur between 2 low-similarity sequences, probably via nonhomologous end joining. Furthermore, translocations of a Ypterq11.21 fragment to 7q35 likely result in normal or only mildly impaired male-type sexual development, along with various clinical features of 7q deletion syndrome, although their effects on adult testicular function remain to be studied.

Autoimmune Pancreatitis – Diagnosis, Management and Longterm Follow-up

2014 ◽  
Vol 23 (2) ◽  
pp. 179-185 ◽  
Author(s):  
Suvadip Chatterjee ◽  
Kofi W. Oppong ◽  
John S. Scott ◽  
Dave E. Jones ◽  
Richard M. Charnley ◽  
...  
Keyword(s):  
Autoimmune Pancreatitis ◽  
Rare Condition ◽  
Team Approach ◽  
Diagnostic Challenge ◽  
Multisystem Disorder ◽  
North East ◽  
The North ◽  
Work Up ◽  
Igg4 Level

Background & Aims: Autoimmune pancreatitis (AIP) is a fibroinflammatory condition affecting the pancreas and could present as a multisystem disorder. Diagnosis and management can pose a diagnostic challenge in certain groups of patients. We report our experience of managing this condition in a tertiary pancreaticobiliary centre in the North East of England.Methods: Patients were identified from a prospectively maintained database of patients diagnosed with AIP between 2005 and 2013. Diagnosis of definite/probable AIP was based on the revised HISORt criteria. When indicated, patients were treated with steroids and relapses were treated with azathioprine. All patients have been followed up to date.Results: Twenty-two patients were diagnosed with AIP during this period. All patients had pancreatic protocol CT performed while some patients had either MR or EUS as part of the work up. Fourteen out of 22 (64%) had an elevated IgG4 level (mean: 10.9 g/L; range 3.4 - 31 g/L). Four (18%) patients underwent surgery. Extrapancreatic involvement was seen in 15 (68%) patients, with biliary involvement being the commonest. Nineteen (86%) were treated with steroids and five (23%) required further immunosuppression for treatment of relapses. The mean follow up period was 36.94 months (range 7 - 94).Conclusion: Autoimmune pancreatitis is being increasingly recognized in the British population. Extrapancreatic involvement, particularly extrahepatic biliary involvement seems to be a frequent feature.Diagnosis should be based on accepted criteria as this significantly reduces the chances of overlooking malignancy. Awareness of this relatively rare condition and a multi-disciplinary team approach will help us to diagnose and treat this condition more efiectively thereby reducing unnecessary interventions.

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