Complex 9p rearrangement in an XY patient with ambiguous genitalia and features of both 9p duplication and deletion

2012 ◽  
Vol 158A (6) ◽  
pp. 1498-1502 ◽  
Author(s):  
Vivian Alejandra Neira ◽  
Carlos Córdova-Fletes ◽  
Yohann Grondin ◽  
Azubel Ramirez-Velazco ◽  
Luis E. Figuera ◽  
...  
Keyword(s):  
Ambiguous Genitalia ◽  
9P Duplication

Neonatal Serum Electrolyte and Proteinuria Screening on 46,XY Ambiguous Genitalia Patients May Allow Early Diagnosis of Denys-Drash Syndrome: A Case Report

Urology ◽  
2020 ◽  
Author(s):  
Angelena Edwards ◽  
Niccolo M. Passoni ◽  
Rebecca Collins ◽  
Smitha Vidi ◽  
Jyothsna Gattineni ◽  
...  
Keyword(s):  
Case Report ◽  
Early Diagnosis ◽  
Ambiguous Genitalia ◽  
Serum Electrolyte ◽  
Drash Syndrome

46,XX/47,XXY mosaic form of klinfelter syndrome with ambiguous genitalia: a case report

2014 ◽  
Author(s):  
Fadila Chabour ◽  
Said Azzoug ◽  
Leila Rabehi ◽  
Farida Chentli
Keyword(s):  
Case Report ◽  
Ambiguous Genitalia ◽  
Mosaic Form

Newborn With Persistent Cloaca Presenting With Accessory Phallic Urethra and Ambiguous Genitalia

Urology ◽  
2011 ◽  
Vol 78 (3) ◽  
pp. 680-683 ◽  
Author(s):  
Luis H.P. Braga ◽  
Kaitlyn Whelan ◽  
Jorge DeMaria ◽  
Joao L. Pippi-Salle
Keyword(s):  
Ambiguous Genitalia ◽  
Persistent Cloaca

scholarly journals Role of Transperineal Ultrasound (TPUS) in Children with Ambiguous Genitalia

2021 ◽  
Author(s):  
Krithika Rangarajan ◽  
Manisha Jana ◽  
Nagesh Wadgera ◽  
Arun Kumar Gupta ◽  
Minu Bajpai ◽  
...  
Keyword(s):  
Gold Standard ◽  
Sex Differentiation ◽  
Ambiguous Genitalia ◽  
Transperineal Ultrasound ◽  
Transabdominal Ultrasound ◽  
Resonance Imaging ◽  
Normal Children ◽  
Genital Ambiguity ◽  
Magnetic Resonance Imaging Mri

Abstract Objectives Accurate delineation of anatomy in children with ambiguous genitalia early in life is important. This commonly involves conventional fluoroscopic genitogram (traumatic to the child) and magnetic resonance imaging (MRI) examination (involves sedation). In this study, our objectives were twofold: (1) to describe the findings on transperineal ultrasound (TPUS) in normal children and (2) to describe the findings on TPUS in children with ambiguous genitalia and correlate them with conventional genitogram. Materials and Methods TPUS was prospectively performed in 10 children without genital ambiguity (5 girls and 5 boys). Subsequently, 15 consecutive children having disorders of sex differentiation (DSDs) with genital ambiguity underwent TPUS. The presence or absence of müllerian structures was documented. Of these patients, 14 also underwent conventional genitogram as a part of routine evaluation. The gold standard was established either by comparison with surgical findings (in patients who underwent surgery) or by comparison with a combination of findings on genitogram and transabdominal ultrasound in patients who did not undergo surgery. Results In all normal children, lower urogenital tracts could be clearly delineated on TPUS. Out of the 15 children with ambiguous genitalia, TPUS could establish the presence/absence of müllerian structures in 14. This was concordant with findings on conventional genitogram/surgery. In one patient, müllerian structure was missed on TPUS but demonstrated on genitogram. In two children, TPUS showed the müllerian structure, which was not seen on genitogram. When both the controls and the cases were combined, TPUS had an accuracy of 95% and specificity of 100% in the detection of müllerian structures. Conclusion TPUS is feasible and accurate in demonstration of lower urogenital tract anatomy in children with DSDs having ambiguous genitalia. It can be performed without sedation, and is suitable for use as a screening modality in children with ambiguous genitalia.

Isolated 17, 20 Lyase Deficiency Secondary to a Novel CYB5A Variant: Comparison of Steroid Metabolomic Findings with Published Cases Provides Diagnostic Guidelines and Greater Insight into Its Biological Role

2020 ◽  
Vol 93 (7-8) ◽  
pp. 483-496
Author(s):  
Meera Shaunak ◽  
Norman F. Taylor ◽  
David Hunt ◽  
Justin H. Davies
Keyword(s):  
Mass Spectrometry ◽  
Ambiguous Genitalia ◽  
Relative Increase ◽  
Testicular Microlithiasis ◽  
Lyase Deficiency ◽  
Chain Cleavage ◽  
Steroid Profiles ◽  
Steroid Analysis ◽  
17 Hydroxyprogesterone ◽  
Urine Steroid

Objective: The objective of this study was to report CYB5A deficiency, to discuss the contribution of steroid metabolomics to diagnosis and interpretation, and to highlight the presence of testicular microlithiasis. Methods: Two siblings with ambiguous genitalia at birth were later found to carry novel CYB5A variants, with resulting isolated 17, 20 lyase deficiency. We compared urine steroid data obtained between birth and adulthood with that from other cases. Results: Neonatal urine steroid profiles show a relative increase of 16-hydroxylated pregnenolone metabolites. Thereafter, there are no distinguishing features until puberty, when sex steroid deficiency drives gonadotrophin production, resulting in marked increases of 17-hydroxyprogesterone metabolites derived from the gonads. This excess may be revealed pre-pubertally by gonadotrophin stimulation testing. Novel findings are first, a considerable capacity for DHEA synthesis in the neonatal period compared to childhood and adulthood, suggesting that DHEAS production is much less dependent on CYB5A at birth; second, no consistent change in “backdoor pathway” intermediates; third, side chain cleavage of cortisol is largely unaffected, supporting the existence of a different lyase not dependent on CYB5A; fourth, increased 17-hydroxyprogesterone metabolites and very low androgen metabolites are diagnostic post-pubertally. Conclusion: This is the fourth disease-causing variant in CYB5A in isolated 17, 20 lyase deficiency and the first associated with testicular microlithiasis. Establishing a biochemical diagnosis pre-pubertally should now be possible using urine steroid profiling, supported by synacthen and gonadotrophin stimulation testing. We recommend liquid chromatography-mass spectrometry/mass spectrometry rather than immunoassay for serum steroid analysis, early methaemoglobin measurement and surveillance should testicular microlithiasis be detected.

Genome analyses and androgen quantification for an infant with 5α-reductase type 2 deficiency

2021 ◽  
Vol 0 (0) ◽  
Author(s):  
Kazuhisa Akiba ◽  
Keiko Aso ◽  
Yukihiro Hasegawa ◽  
Maki Fukami
Keyword(s):  
Disorders Of Sex Development ◽  
Reference Value ◽  
Ambiguous Genitalia ◽  
Chinese Patients ◽  
Sex Development ◽  
Liquid Chromatography Tandem Mass ◽  
Exon 1 ◽  
Genome Analyses ◽  
Immune Assays

Abstract Objectives 5α-reductase type 2 deficiency due to biallelic SRD5A2 variants is a common form of 46,XY disorders of sex development. Case presentation A Chinese neonate presented with ambiguous genitalia. He carried a homozygous likely_pathogenic SRD5A2 variant (c.650C>A, p.A217E). His apparently nonconsanguineous parents were heterozygotes for the variant. The variant has previously been identified in two Chinese patients. Our patient carried 14.2 Mb loss-of-heterogeneity regions distributed in the genome. The SRD5A2 variant in this family was invariably coupled with two polymorphisms in exon 1 and intron 1. In the patient, blood testosterone (T)/5α-dihydrotestosterone (5αDHT) ratios were elevated before and during mini puberty, and were higher when measured by liquid chromatography-tandem mass spectrometry (LC-MS/MS) than measured by conventional immune assays. Conclusions This study provides evidence for the founder effect of an SRD5A2 variant. Furthermore, our data indicate that there is a need to establish a new reference value for T/5αDHT ratios using LC-MS/MS.

A Normal SRY-Gene in a 46XX, 6-Year -Old With Ambiguous Genitalia: Case Report and Literature Review

2011 ◽  
Vol 24 (2) ◽  
pp. e52-e53
Author(s):  
Isiah D. Harris ◽  
Lauren Ross ◽  
Kara Brinker ◽  
Johanne Python ◽  
Lauren Roth ◽  
...  
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Ambiguous Genitalia ◽  
Sry Gene

Parents Of Children With Ambiguous Genitalia: Stories Of Experiences Of Reconstructive Genital Surgeries And Finding Harmony

2009 ◽  
Vol 5 ◽  
pp. S95
Author(s):  
Caroline SANDERS ◽  
Bernie CARTER ◽  
Lynne GOODACRE ◽  
Alan ARMSTRONG
Keyword(s):  
Ambiguous Genitalia

scholarly journals 45,X/46,XY mosaicism: report on 14 patients from a Brazilian hospital. A retrospective study

2014 ◽  
Vol 132 (6) ◽  
pp. 332-338 ◽  
Author(s):  
Rafael Fabiano Machado Rosa ◽  
Willy Francisco Bartel D'Ecclesiis ◽  
Raquel Papandreus Dibbi ◽  
Rosana Cardoso Manique Rosa ◽  
Patrícia Trevisan ◽  
...  
Keyword(s):  
Retrospective Study ◽  
Turner Syndrome ◽  
Early Recognition ◽  
External Genitalia ◽  
Ambiguous Genitalia ◽  
Referral Hospital ◽  
Clinical Genetics ◽  
Sex Development ◽  
Genital Ambiguity ◽  
The Individual

CONTEXT AND OBJECTIVE: 45,X/46,XY mosaicism, or mixed gonadal dysgenesis, is considered to be a rare disorder of sex development. The aim of our study was to investigate the clinical and cytogenetic characteristics of patients with this mosaicism.DESIGN AND SETTING: A retrospective study in a referral hospital in southern Brazil.METHODS: Our sample consisted of patients diagnosed at the clinical genetics service of a referral hospital in southern Brazil, from 1975 to 2012. Clinical and cytogenetic data were collected from the medical records.RESULTS: Fourteen patients were included in the sample, with ages at the first evaluation ranging from 2 days to 38 years. Nine of them had female sex of rearing and five, male. Regarding the external genitalia, most were ambiguous (n = 10). One patient presented male phenotype and was treated for a history of azoospermia, while three patients presented female phenotype, of whom two had findings of Turner syndrome and one presented secondary amenorrhea alone. Some findings of Turner syndrome were observed even among patients with ambiguous genitalia. None presented gonadal malignancy. One patient underwent surgical correction for genital ambiguity and subsequent exchange of sex of rearing. Regarding cytogenetics, we did not observe any direct correlation between percentages of cell lines and phenotype.CONCLUSIONS: 45,X/46,XY mosaicism can present with a wide variety of phenotypes resulting from the involvement of different aspects of the individual. All these observations have important implications for early recognition of these patients and their appropriate management.

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