A kindred with multiple affected members presenting gonadal dysgenesis was studied. Four 46,XY individuals presented severe hypospadias at birth, one of them associated with micropenis and cryptorchidism. [ncbi.nlm.nih.gov]

Incidence, prevalence, diagnostic delay, and clinical presentation of female 46,XY disorders of sex development. Endocrinology. 101(12):4532-4540. [pure.au.dk]

Infants with PAIS present with the genital ambiguity of varying degrees while adults may present with gynecomastia. [12] However, the risk of malignancy in individuals with PAIS is 15% if the testis is not scrotal in position. [13] Patient S.10 presented [ijem.in]

Without full preoperative workups assessing patients' expectations and reasons for undergoing surgery, they may still struggle with self/penile image and with psychological barriers for engaging in sexual activity. [ncbi.nlm.nih.gov]

Acknowledgement The author thanks the Departments of Medical Genetics, Medical Endocrinology, Surgical Endocrinology, Urology, Pathology and Radiology, Sanjay Gandhi Postgraduate Institute of Medical Sciences (SGPGIMS), Lucknow for assisting in the workup [jcdr.net]

Initial workup includes a detailed antenatal and postnatal history, physical examination, karyotyping, and hormonal assays. This will guide further workup such as imaging and genetic analysis. [hkmj.org]

Molecular cytogenetic analyses, together with mutation screening using NGS, should be included in the diagnostic workup of patients with 46,XY DSD of unknown origin. [link.springer.com]

Outlines • Normal sex development and Embryology • Definition • Classification • Disorders • Workup 4. Hormones 5. [slideshare.net]

In a significant proportion of 46,XY DSD cases it is not possible to identify a causative mutation, making genetic counseling difficult and potentially hindering optimal treatment. [ncbi.nlm.nih.gov]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

Treatment involves surgery and hormone replacement therapy. [1] People with 46, XY DSD are at an increased risk for gonadal tumors and benefit from regular surveillance or surgery to remove abnormally developed gonads. [1] Last updated: 12/7/2012 [rarediseases.info.nih.gov]

Prognosis The risk of gonadal tumors in individuals with SRD5A2 is quite low. Prostate diseases (prostate cancer, benign prostate hyperplasia) have not been reported in affected males. [orpha.net]

January 2016） 小児科 57巻1号 （2016年1月） 綜説 性分化疾患の長期予後　精神的性発達と性機能に関して 1 獨協医科大学 小児科 キーワード： 形成外科, 生殖能力, 小児の発達, 性行動, 性腺異形成-46XY, 性別違和, 性分化疾患, 予後, 患者の満足度, 性染色体異常, 性分化疾患-46XX精巣性 Keyword: Gender Dysphoria, Child Development, Fertility, Gonadal Dysgenesis, 46,XY, Prognosis [webview.isho.jp]

We suggest that this frequency may vary according to different etiologies but is higher in individuals with AIS. In the present work, 10% of parents presented consanguinity. [scielo.br]

This report further confirms the role of NR5A1 deletions in 46,XY DSD and reinforces the utility of aCGH in the work up of DSDs of unclear etiology. Copyright 2013 Elsevier Masson SAS. All rights reserved. [ncbi.nlm.nih.gov]

[…] of HH, an X-linked family history, and/or symptoms suggestive of a contiguous gene deletion syndrome To determine etiology of 46,XY gonadal dysgenesis and ambiguous genitalia Carrier testing for females with a family history of X-linked AHC Prenatal [genedx.com]

They require prompt and timely diagnosis because certain etiologies can result in acute medical decompensation. [ijpeonline.biomedcentral.com]

Etiology The disease is caused by mutations in SRD5A2 (2p23.1) leading to a reduced or absent function of the steroid 5a-reductase type 2 enzyme which converts T into DHT in the external genitalia. [orpha.net]

Summary Epidemiology The disease has been described in 50 families and is prevalent in the Dominican Republic, Southern Lebanon and the Eastern Highlands Province of Papua New Guinea. It is relatively rare among Caucasians. [orpha.net]

The objective of the present paper is to describe the epidemiological and clinical profile of patients with DSD 46, XY syndrome followed in a tertiary referral center ambulatory. [scielo.br]

Socio-economic- epidemiology of consanguineous matings in Saudi Arabian population. J Asian Afr Stu 1989;24:7–52. Google Scholar 29. El Mouzan MI, Al Salloum A, Al Herbish AS, Qurachi MM, Al Omar AA. [degruyter.com]

Gonadotropin-releasing hormone deficiency in the human (idiopathic hypogonadotropic hypogonadism and Kallmann's syndrome): pathophysiological and genetic considerations. Endocr Rev. 1998; 19 521-539 4 Hardelin J P. [doi.org]

[…] insensitivity): high-dose androgen therapy Gonadectomy for intra-abdominal testicles typically performed after puberty ( high risk of malignancy ) Psychological support References: [1] Aromatase deficiency Karyotype : 46 XX or 46 XY (normal sex development) Pathophysiology [amboss.com]

Molecular genetics and pathophysiology of 17 beta-hydroxysteroid dehydrogenase 3 deficiency. J Clin Endocrinol Metab 1996;81:130-136. 23. Brain CE, Creighton SM, Mushtaq I, Carmichael PA, Barnicoat A, Honour JW, Larcher V, Achermann JC. [jcrpe.org]

Molecular genetics and pathophysiology of 17 beta-hydroxysteroid dehydrogenase 3 deficiency. J Clin Endocrinol Metab. 1996;81:130–6. PubMed Google Scholar Rosler A, Bélanger A, Labrie F. [ijpeonline.biomedcentral.com]

Because infants with more profound hypogonadism may be raised as boys, there is a need to continue to improve our understanding of the underlying pathophysiology while intensifying the long-term follow-up of boys and men with DSD. [pediatrics.aappublications.org]

In addition exploratory laparotomy was performed in order to investigate the Mullerian and Wolffian structures, to evaluate gonadal tissue and to prevent future tumorigenesis (Figure 1). [imagejournals.org]

For patients raised as female, management includes surgical correction of the external genitalia (vaginal opening into the perineum with early separation of the vagina and urethra), early removal of gonadal tissue to prevent masculinization before puberty [orpha.net]

The cost of genetic testing was 780 USD (Prevention Genetics, Marshfield WI, USA). [ijpeonline.biomedcentral.com]

During management, appropriate measures of mullerian ducts remnants should be undertaken to prevent future complications. [jcdr.net]