Psychological Problem in Pediatric Disorder of Sex Development Patient and Relatives

Disorder of sexual development (DSD) is one of challenging disorder that has to be done clinically and physiologically. The patients and relatives may experience various psychosocial problems that have an impact on their live. The aim of this study is to look at psychological problem in children with DSD and their relatives. A systematic search was conducted in PubMed for articles representing information on psychological problem to the patient and their relatives. Relevant data were extracted and narratively reviewed. The result of this review can be used as basic data in the development of counselling program for the patients and their relatives.

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Psychological Problem in Pediatric Disorder of Sex Development Patient and Relatives

Open Access Indonesian Journal of Medical Reviews ◽

10.37275/oaijmr.v1i2.33 ◽

2021 ◽

Vol 1 (2) ◽

pp. 24-27

Author(s):

Erlangga Danu Saputro

Keyword(s):

Sexual Development ◽

Psychosocial Problems ◽

Psychological Problem ◽

Systematic Search ◽

Basic Data ◽

Disorder Of Sex Development ◽

Sex Development ◽

Disorder Of Sexual Development ◽

Counselling Program

Disorder of sexual development (DSD) is one of challenging disorder that has tobe done clinically and physiologically. The patients and relatives may experiencevarious psychosocial problems that have an impact on their live. The aim of thisstudy is to look at psychological problem in children with DSD and their relatives.A systematic search was conducted in PubMed for articles representinginformation on psychological problem to the patient and their relatives. Relevantdata were extracted and narratively reviewed. The result of this review can beused as basic data in the development of counselling program for the patientsand their relatives.

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Achondroplasia with SRY-positive 46, XX disorder of sex development: an extremely rare association

Endocrinology Diabetes and Metabolism Case Reports ◽

10.1530/edm-18-0054 ◽

2018 ◽

Vol 2018 ◽

Cited By ~ 1

Author(s):

Yang Timothy Du ◽

Angus Rutter ◽

Jui T Ho

Keyword(s):

Sexual Development ◽

Bone Growth ◽

List Type ◽

Endochondral Bone ◽

Disorder Of Sex Development ◽

Sex Development ◽

Activating Mutation ◽

Hybridisation Analysis ◽

Low Incidence ◽

And Function

Summary A 40-year-old man with achondroplasia presented with symptoms of hypogonadism, low libido and gynaecomastia. He was found to have hypergonadotropic hypogonadism, and karyotype and fluorescent in situ hybridisation analysis showed SRY-positive 46, XX disorder of sex development (DSD). He was tested to have the common activating mutation of the FGFR3 gene implicated in achondroplasia, indicating that he had the two rare conditions independently, with an extremely low incidence of 1 in 400 million. This, to the best of our knowledge, is the first report of an individual having these two rare conditions concurrently. This case highlights that individuals with achondroplasia should have normal sexual development, and in those presenting with incomplete sexual maturation or symptoms of hypogonadism should prompt further evaluation. We also propose a plausible link between achondroplasia and 46, XX DSD through the intricate interactions between the SRY, SOX9 and FGFR9 gene pathways. Learning points: The SOX9 and FGF9 genes, which are upregulated by the SRY gene, are important in both sex determination in the embryo, as well as endochondral bone growth. Patients with achondroplasia should have normal sexual development and function in the absence of other confounding factors. Patients with achondroplasia who present with symptoms and signs of abnormal sexual development and/or hypogonadism should be appropriately investigated for other causes.

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Expression of mRNA Mastermind-like Domain-containing 1, Androgen Receptor, and Estrogen Receptor in Patients with Hypospadias

Open Access Macedonian Journal of Medical Sciences ◽

10.3889/oamjms.2020.4557 ◽

2020 ◽

Vol 8 (A) ◽

pp. 543-547

Author(s):

Prahara Yuri ◽

Didik Setyo Heriyanto ◽

Arry Rodjani ◽

Yonas Immanuel Hutasoit ◽

Andre Yudha Alfanius Hutahaean ◽

...

Keyword(s):

Sexual Development ◽

Sex Differentiation ◽

Quantitative Polymerase Chain Reaction ◽

Critical Periods ◽

Positive Correlation ◽

Testosterone Production ◽

Sex Development ◽

Disorder Of Sexual Development ◽

One Step

BACKGROUND: Androgen (AR) and Estrogen (ER) hormones play an important role in the prenatal and postnatal development of the urogenital tract and especially the penis. Growth factors also influence the development of genital structures. Little is known about the exact role of Mastermind Like Domain 1 (MAMLD1) in sexual development. A role in sex differentiation through supporting testosterone production in critical periods of male development has been suggested. MAMLD1 mutations result in hypospadias with and without a disorder of sexual development (DSD) primarily because of compromised testosterone production around the critical period for fetal sex development, but the underlying etiology remains unclear. AIM: The objective of this study was to investigate the correlation between gene factor MAMLD1, AR, ER1, and ER2 with the incidence of hypospadias. OBJECTIVE: The objective of this study was to investigate the correlation between gene factor MAMLD1, AR, ER1, and ER2 with the incidence of hypospadias. METHODS: From 2017-2018, peri-urethral dartos were harvested from 46 patients with proximal hypospadias, 24 patients with distal hypospadias and 10 patients with normal penile were used as controls. The expressions of MAMLD1, AR, ER1, and ER2 were investigated by one-step quantitative polymerase chain reaction. RESULTS: Median age was 5 years old in the 70 patients with hypospadias and 6 years old in the control subjects. Total specimens taken included 24 distal penile, 46 proximal penile, and 10 normal penile specimens. We found decreasing MAMLD1 and AR expressions, but ER2 expression increased in patients with hypospadias compared to controls, which was statistically significant (p < 0.001). A positive correlation between MAMLD1 and AR was found in patients with hypospadias (r = 0.062; p = 0.038). CONCLUSIONS: Decreasing of MAMLD1 and AR expression was followed by increasing ER2 expression in patients with hypospadias. MAMLD1 had a positive correlation with AR so the defect of MAMLD1 may influence AR and increase the incidence of hypospadias.

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Proximal Hypospadias Repair Outcomes in Patients with a Specific Disorder of Sexual Development Diagnosis

Advances in Urology ◽

10.1155/2012/708301 ◽

2012 ◽

Vol 2012 ◽

pp. 1-4 ◽

Cited By ~ 6

Author(s):

Blake W. Palmer ◽

William Reiner ◽

Brad P. Kropp

Keyword(s):

Sexual Development ◽

Disorders Of Sex Development ◽

Hypospadias Repair ◽

Urethral Meatus ◽

Proximal Hypospadias ◽

Sex Development ◽

Disorder Of Sexual Development ◽

Increased Risk ◽

The Mean ◽

Contemporary Study

Boys with undermasculinized external genital and/or 46,XY disorders of sex development (DSD) often receive masculinizing genitoplasty. Such procedures are done to correct ventral curvature of the phallus, reposition a proximally located urethral meatus, and cosmetically correct the appearance of labioscrotal folds. No studies to date have assessed if patients with a specific DSD diagnosis have worse outcomes for severe proximal hypospadias procedures or whether or not these patients require more extensive surgical maneuvers than severe proximal hypospadias patients without a specific DSD diagnosis. We retrospectively reviewed consecutive proximal hypospadias repairs performed at our institution from 1998 to 2010 and compared the anatomy, surgical technique required for repair, and outcomes in patients with and without a definitive DSD diagnosis. Boys with a specific DSD diagnosis do have significantly more atypical anatomy when undergoing proximal hypospadias masculinizing genitoplasties. They are more likely to require associated gonad procedures but do not have an increased risk of complications or number of surgeries when compared to other proximal hypospadias patients without a specific DSD diagnosis. The risk of complications is consistent with reports in the literature, and the mean number of procedures in this contemporary study is fewer than in historic reports.

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