Management of disorders of sex development – With a focus on development of the child and adolescent through the pubertal years

Raza, Jamal; Zaidi, Syed Zafar; Warne, Garry L.

doi:10.1016/j.beem.2019.101297

Cited by 8 publications

(3 citation statements)

References 25 publications

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“…The most definitive way for diagnosis is to look for the AR gene mutation by molecular genetic tests; however, facilities for these tests are not readily available and hence not routinely done. 11 Hormonal assays in these patients reveal normal to mildly elevated serum gonadotropins with normal to high androgen levels. 12 It must be noted that hormonal assays are non-specific as a diagnostic tool as far as AIS is concerned.…”

Section: Discussionmentioning

confidence: 85%

“…Clinical presentation of incomplete AIS can vary from phenotypic females with mild virilisation to under-virilised males presenting with ambiguous genitalia. 11 These patients have variable development of the Wolffian duct system. Complete AIS presents with female secondary sexual characteristics such as well-developed breasts, scanty pubic or axillary hair with shortened vagina and no evidence of male characteristics.…”

Section: Discussionmentioning

confidence: 99%

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Magnetic Resonance Imagery Findings in Androgen Insensitivity

Mukhopadhyay

Aggarwal

Mutreja

et al. 2021

Sultan Qaboos Univ Med J

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Androgen insensitivity syndrome is a disorder of sex development resulting from mutations in androgen receptor. In complete form of this disorder, patients are genetically males, but phenotypically females, presenting with primary amenorrhea. We report three cases of Androgen Insensitivity Syndrome highlighting multifaceted role of MRI for presurgical planning by evaluating location, type of gonads and detecting possible complications. All patients presented with primary amenorrhea and MRI accurately localised testes in all, one patient had bilateral inguinal and two had intra-abdominal testes. Intra-abdominal testes were not localised on USG. MRI also depicted Sertoli cell adenomas and Wolffian duct remnants in these patients. MRI can provide comprehensive imaging prior to surgical treatment and thus can be considered a ‘One Stop Shop’ for imaging in androgen insensitivity syndrome. All the patients underwent laparoscopic gonadectomy which is the standard of care, with preoperative counseling about fertility. Postoperatively, they were started on estrogen therapy.Keywords: Amenorrhea; Androgen-insensitivity syndrome; magnetic resonance imaging.

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Section: Discussionmentioning

confidence: 85%

Section: Discussionmentioning

confidence: 99%

Magnetic Resonance Imagery Findings in Androgen Insensitivity

Mukhopadhyay

Aggarwal

Mutreja

et al. 2021

Sultan Qaboos Univ Med J

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“…If blood pressure fails to return to normal after glucocorticoid treatment, calcium channel blockers or spironolactone may be necessary to further control blood pressure [3]. Moreover, gender selection becomes imperative when the chromosomal gender does not align with societal gender identities [34]. Treatment modalities may vary depending on the chosen gender.…”

Section: Discussionmentioning

confidence: 99%

Revealing a New Homozygous Variant in CYP17A1 c.908G>A (p. Gly303Asp) by Genotyping a Chinese Patient with 46, XY 17a-Hydroxylase/17,20-Lyase Deficiency and Adrenal Space-Occupying Lesion

Wang,

Hu,

et al. 2024

Discovery Medicine

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Background: 17α-hydroxylase/17,20-lyase deficiency (17OHD) is an autosomal recessive genetic disorder caused by a mutation of the cytochrome P450, family 17, subfamily A, polypeptide 1 (CYP17A1). This study reports the case of a 22-year-old Chinese patient (46, XY) with 17OHD and a unilateral adrenal space-occupying lesion. Methods: The patient underwent serological, radiographic, genetic, and molecular analyses including whole-genome exome sequencing through high-throughput sequencing (HTS) technology to analyze the genetic conditions of both the patient and her parents. Additionally, chromosomal karyotype analysis was performed. The impact of the novel mutation on protein conformation was investigated by examining the three-dimensional structure of human CYP17A1 using the SWISS-MODEL website tool (PDB code 3RUK). Results: The patient had a chromosomal karyotype 46, XY, and presented with hypertension, hypokalemia, and male pseudohermaphroditism. Furthermore, decreased levels of testosterone, dehydroepiandrosterone sulfate, and estradiol, along with increased levels of progesterone, luteinizing hormone, and follicle-stimulating hormone (FSH), were observed. DNA sequencing revealed a homozygous mutation (c.908G>A, p.G303A) in the fifth exon of the CYP17A1. Both parents carried a heterozygous c.908G>A mutation in the same exon, confirming the inheritance of the patient's exonic mutation. Conclusion: For the first time, this study reports a novel homozygous mutation (c.908G>A in the fifth exon) in CYP17A1. Modeling analysis of CYP17A1 suggested that the substitution of glycine with aspartic acid at position 303 induces alterations in the number, structure, and electrostatic potential of the protein's local binding sites. The p.G303A mutation may possess pathogenic properties. Our study expands the mutation spectrum of CYP17A1.

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Essentials of Counseling of a Teenaged Child with DSD at the Threshold of Decision-Making

Sulakshana,

Deshpande

2024

Children With Differences in Sex Development

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Management of disorders of sex development – With a focus on development of the child and adolescent through the pubertal years

Cited by 8 publications

References 25 publications

Magnetic Resonance Imagery Findings in Androgen Insensitivity

Magnetic Resonance Imagery Findings in Androgen Insensitivity

Revealing a New Homozygous Variant in CYP17A1 c.908G>A (p. Gly303Asp) by Genotyping a Chinese Patient with 46, XY 17a-Hydroxylase/17,20-Lyase Deficiency and Adrenal Space-Occupying Lesion

Essentials of Counseling of a Teenaged Child with DSD at the Threshold of Decision-Making

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