scholarly journals Disorders of sex development: diagnosis and management of infants with ambiguous genitalia

2017 ◽  
Vol 16 (2) ◽  
pp. 31-42
Author(s):  
Ewa Kuźma ◽  
◽  
Wanda Furmaga-Jabłońska ◽  
Iwona Beń-Skowronek ◽  
◽  
...  
Keyword(s):  
Disorders Of Sex Development ◽  
Ambiguous Genitalia ◽  
Diagnosis And Management ◽  
Sex Development

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.

Disorders of sex development

2017 ◽  
Author(s):  
David F.M. Thomas
Keyword(s):  
Disorders Of Sex Development ◽  
Ambiguous Genitalia ◽  
Surgical Reconstruction ◽  
Adrenal Hyperplasia ◽  
Specialist Care ◽  
Gender Assignment ◽  
Developmental Abnormalities ◽  
Sex Development

The aetiology of disorders of sex development (DSD) is multifactorial and includes chromosomal defects, developmental abnormalities of the gonads, and defects of hormonal synthesis and expression. Infants born with ambiguous genitalia require urgent investigation because of the risk of hyponatraemia associated with congenital adrenal hyperplasia (CAH) and to permit an informed decision on gender assignment. CAH is the commonest form of DSD, accounting for around 80% of all infants born with ambiguous genitalia. Despite controversy regarding timing and consent, feminizing genitoplasty in early childhood remains the accepted management for girls with significant clitoromegaly. Surgical reconstruction for 46XY DSD is guided by several factors, notably the size of the phallus and gonadal phenotype. The majority of individuals with disorders of sex development will require ongoing specialist care and long-term multidisciplinary follow-up and support.

scholarly journals Etiology and Clinical Presentation of Disorders of Sex Development in Kenyan Children and Adolescents

2019 ◽  
Vol 2019 ◽  
pp. 1-9
Author(s):  
Prisca Amolo ◽  
Paul Laigong ◽  
Anjumanara Omar ◽  
Stenvert Drop
Keyword(s):  
Children And Adolescents ◽  
Sex Chromosome ◽  
Clinical Laboratory ◽  
Molecular Genetic ◽  
Management Strategies ◽  
Disorders Of Sex Development ◽  
Ambiguous Genitalia ◽  
Molecular Genetic Analysis ◽  
High Rate ◽  
Sex Development

Objective. The purpose of this study was to describe baseline data on etiological, clinical, laboratory, and management strategies in Kenyan children and adolescents with Disorders of Sex Development (DSD). Methods. This retrospective study included patients diagnosed with DSD who presented at ages 0–19 years from January 2008 to December 2015 at the Kenyatta National (KNH) and Gertrude’s Children’s (GCH) Hospitals. After conducting a search in the data registry, a structured data collection sheet was used for collection of demographic and clinical data. Data analysis involved description of the frequency of occurrence of various variables, such as etiologic diagnoses and patient characteristics. Results. Data from the records of 71 children and adolescents were reviewed at KNH (n = 57, 80.3%) and GCH (n = 14, 19.7%). The mean age at the time of diagnosis was 2.7 years with a median of 3 months. Thirty-nine (54.9%) children had karyotype testing done. The median age (IQR) of children with reported karyotypes and those without was 3.3 years (1.3–8.9) and 8.3 years (3.6–12.1), respectively (p=0.021). Based on karyotype analysis, 19 (48.7%) of karyotyped children had 46,XY DSD and 18 (46.2%) had 46,XX DSD. There were two (5.1%) children with sex chromosome DSD. Among the 71 patients, the most common presumed causes of DSD were ovotesticular DSD (14.1%) and CAH (11.3%). Majority (95.7%) of the patients presented with symptoms of DSD at birth. The most common presenting symptom was ambiguous genitalia, which was present in 66 (93.0%) patients either in isolation or in association with other symptoms. An ambiguous genitalia was initially observed by the patient’s mother in 51.6% of 62 cases despite the high rate (84.7%) of delivery in hospital. Seventeen (23.9%) of the cases had a gender reassignment at final diagnosis. A psychologist/psychiatrist or counselor was involved in the management of 23.9% of the patients. Conclusion. The commonest presumed cause of DSD was ovotesticular DSD in contrast to western studies, which found CAH to be more common. Investigation of DSD cases is expensive and needs to be supported. We would have liked to do molecular genetic analysis outside the country but financial challenges made it impossible. A network for detailed diagnostics in resource-limited countries would be highly desirable. There is a need to train health care workers and medical students for early diagnosis. Psychological evaluation should be carried out for all patients at diagnosis and support given for families.

scholarly journals Spectrum of external genital anomalies in disorders of Sex Development at Children Hospital & Institute of Child Health, Lahore, Pakistan

2020 ◽  
Vol 37 (1) ◽  
Author(s):  
Sarah Khan ◽  
Raafea Tafweez ◽  
Areiba Haider ◽  
Muhammad Yaqoob
Keyword(s):  
Child Health ◽  
Wide Spectrum ◽  
Disorders Of Sex Development ◽  
Ambiguous Genitalia ◽  
Delayed Puberty ◽  
Female Sex ◽  
Sex Development ◽  
Mode Of Presentation ◽  
Genital Ambiguity ◽  
Male Sex

Objective: To describe the mode of presentation and frequency of external genital anomalies in disorder of sex development (DSD) Methods: This cross-sectional study was conducted at Children Hospital & Institute of Child Health, Lahore from January to December, 2016 on Children with DSD above 10 years of age. A detailed history and physical examination were done. Positive findings were recorded on a predesigned proforma and analyzed by SPSS 21. Karyotyping on blood samples was done to determine their genetic sex. Results: Out of 83 DSD children, 67% (n=56) were assigned a female sex at birth of which 9% (n=5) had ambiguous genitalia. Male sex at birth was given to 33% (n=27) of which 96% (n=26) had genital ambiguity. Mode of presentation other than ambiguous genitalia were delayed puberty, amenorrhea, hirsuitism, gynaecomastia, cyclic hematuria etc. Clitoromegaly was the main finding in 62.5% (n=5) and micropenis in 45% (n=9). Karyotypic sex of 56 female sex of rearing was 46XX 80% (n=45), 45X0 13% (n=7), XXX 2% (n=1) and 46 XY in 5% (n=3). Karyotypic sex of 27 male sex of rearing was 46XY in 78% (n=21), 46XX in 15% (n=4) and 47XXY in 7% (n=2). Conclusion: Disorders of sex development presented with a wide spectrum of external genital anomalies ranging from clitoromegaly in females to micropenis and hypospadias in males. There was also an extreme diversity in mode of presentation of these cases including pubertal delay, amenorrhea in females and gender confusion disorders. doi: https://doi.org/10.12669/pjms.37.1.2991 How to cite this:Khan S, Tafweez R, Haider A, Yaqoob M. Spectrum of external genital anomalies in disorders of Sex Development at Children Hospital & Institute of Child Health, Lahore, Pakistan. Pak J Med Sci. 2021;37(1):244-249. doi: https://doi.org/10.12669/pjms.37.1.2991 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/3.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

scholarly journals Ovotesticular Disorder of Sex Development: An Unusual Presentation

2019 ◽  
Vol 9 ◽  
pp. 34 ◽  
Author(s):  
Meltem Özdemir ◽  
Rasime Pelin Kavak ◽  
Ihsan Yalcinkaya ◽  
Kursat Guresci
Keyword(s):  
Unusual Case ◽  
Disorders Of Sex Development ◽  
Ambiguous Genitalia ◽  
Normal Male ◽  
Genital Organ ◽  
Rare Form ◽  
Disorder Of Sex Development ◽  
Breast Enlargement ◽  
Sex Development ◽  
Bilateral Breast Enlargement

Disorder of sex development is an inclusive term that refers to any problem where the genital organ is atypical in relation to chromosomes or gonads. Ovotesticular disorder of sex development, which is formerly known as “true hermaphroditism,” is the most rare form among all disorders of sex development in humans. It is characterized by the simultaneous presence of both ovarian and testicular tissues in the same individual and characteristically presents with ambiguous genitalia in neonates or infants. Herein, we present an unusual case of a 19-year-old individual with phenotypically nearly normal male genitalia who presented with the complaint of bilateral breast enlargement.

Ambiguous genitalia or disorders of sex development. Medical and ethical aspects

2014 ◽  
Vol 12 (4) ◽  
pp. 259-270
Author(s):  
Magdalena Pisarska-Krawczyk ◽  
◽  
Grażyna Jarząbek-Bielecka ◽  
Małgorzata Mizgier ◽  
Amanda Rewers ◽  
...  
Keyword(s):  
Disorders Of Sex Development ◽  
Ambiguous Genitalia ◽  
Ethical Aspects ◽  
Sex Development

scholarly journals Three out of four: a case discussion on ambiguous genitalia

2008 ◽  
Vol 159 (suppl_1) ◽  
pp. S91-S93 ◽  
Author(s):  
Edgar G A H van Mil ◽  
Olaf Hiort
Keyword(s):  
Decision Making ◽  
Disorders Of Sex Development ◽  
Psychosocial Care ◽  
Prenatal Testing ◽  
Diagnostic Procedures ◽  
Ambiguous Genitalia ◽  
Therapeutic Interventions ◽  
Case Discussion ◽  
Sex Development ◽  
The Family

Disorders of sex development (DSD) include a heterogeneous group of heritable disorders of sex determination and differentiation. This includes chromosomal as well as monogenic disorders, which inhibit or change primarily genetic or endocrine pathways of normal sex development. However, in many patients affected, no definitive cause for the disorder can be found. Therefore, the birth of a child with ambiguous genitalia still represents an enormous challenge. For the structuring of diagnostic procedures, decision making and also therapeutic interventions, a highly specialised team of physicians of different subspecialties and experts for psychosocial care is needed to counsel parents and patients accordingly. This article presents a case with 46,XX DSD and androgen excess. After making the diagnosis on clinical and biochemical grounds, the family refused further genetic testing. The outcome of subsequent pregnancies confirmed the working diagnosis of an autosomal form of 46,XX DSD. However, the family still refused prenatal testing and treatment on religious grounds. The case discussion further illuminates the possible influence of religion in prenatal testing and concludes with the approach to the parents for comprehensive counselling in decision making for their child.

Surgical options in disorders of sex development (dsd) with ambiguous genitalia

2010 ◽  
Vol 24 (2) ◽  
pp. 311-324 ◽  
Author(s):  
Isabelle Vidal ◽  
Daniela Brindusa Gorduza ◽  
Elodie Haraux ◽  
Claire-Lise Gay ◽  
Pierre Chatelain ◽  
...  
Keyword(s):  
Disorders Of Sex Development ◽  
Ambiguous Genitalia ◽  
Sex Development ◽  
Surgical Options
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