Displaying publications 1 - 20 of 26 in total

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  1. O'Connor MP, Samuel J
    Matched MeSH terms: Disorders of Sex Development
  2. Da Aw L, Zain MM, Esteves SC, Humaidan P
    Int Braz J Urol, 2016 Nov-Dec;42(6):1237-1243.
    PMID: 27532119 DOI: 10.1590/S1677-5538.IBJU.2016.0225
    MAIN FINDINGS: A typical male looking adolescent with a legal female gender assignment presented with haematuria. Investigations led to the diagnosis of Persistent Mullerian Duct Syndrome. The condition is indeed a rare entity that needs a multidisciplinar team management. Case hypothesis: A case of Persistent Mullerian Duct Syndrome undiagnosed at birth because karyotyping was defaulted, thus resulting in a significant impact on the legal gender assignment and psychosocial aspects. Promising future implications: The reporting of this case is important to create awareness due to its rarity coupled with the rare presentation with hematuria as a possible masquerade to menstruation. There were not only medical implications, but also psychosocial and legal connotations requiring a holistic multidisciplinary management.
    Matched MeSH terms: Disorders of Sex Development/diagnosis*; 46, XY Disorders of Sex Development/diagnosis*
  3. Boon WH, Salmon Y, Seng CT
    Med J Malaya, 1966 Sep;21(1):56-62.
    PMID: 4224879
    Matched MeSH terms: Disorders of Sex Development/genetics*
  4. Yip CH, Chang KW
    Singapore Med J, 1991 Oct;32(5):363-4.
    PMID: 1788587
    An eighteen month old phenotypically and genotypically normal male child was admitted with a left inguinal hernia and a right undescended testis. At operation, he was found to have a uterus, bilateral fallopian tubes, and a vagina in the left hernial sac. Bilateral orchidopexies and excision of the persistent Mullerian duct structures were carried out. This rare case of persistent Mullerian duct syndrome is due to a defect in Mullerian regression, which is in turn controlled by the Mullerian inhibiting substance (MIS). Orchidopexy with excision of the persistent Mullerian duct structures is usually not possible without damage to the vas deferens which is closely adherent to the wall of the uterus. The alternative of leaving the persistent Mullerian duct structures alone and performing a staged or primary orchidopexy has been suggested.
    Matched MeSH terms: Disorders of Sex Development/etiology*; Disorders of Sex Development/surgery
  5. Alhomaidah D, McGowan R, Ahmed SF
    Clin Genet, 2017 02;91(2):157-162.
    PMID: 28127758 DOI: 10.1111/cge.12912
    Disorders of sex development (DSD), are a group of rare congenital conditions. Unlike 46, XX DSD where the cause is usually clear, identification of a cause of XY DSD is often unclear and may be attributed to a disorder of gonadal development, androgen synthesis or androgen action. Reaching a firm diagnosis is challenging and requires expertise within a framework that abides by the highest standards of clinical care. Whilst conditions associated with altered sex development have improved our fundamental understanding of sex and gonadal development, it is debatable whether this improvement in our understanding has improved the lives of people with DSD. Thus, there is a need for more emphasis on showing that a firm diagnosis for conditions associated with DSD is associated with a change in clinical practice that benefits the patient. With the rapid advances in diagnostic technology, there is also a need for clearer guidance on the relative merits of biochemical vs genetic evaluation. The standardization and harmonization of complex genetic and biochemical analyses for rare conditions are issues that require further guidance and it is probably that international networks and registries for rare conditions will facilitate the development of this framework.
    Matched MeSH terms: Disorders of Sex Development/diagnosis*; Disorders of Sex Development/genetics*; Disorders of Sex Development/pathology
  6. Haritharan T, Islah M, Zulfiqar A, Thambi Dorai CR
    Med J Malaysia, 2006 Jun;61(2):258-9.
    PMID: 16898327 MyJurnal
    Isolated involvement of the clitoris by vascular malformation (VM) is very rare. Clinically, the lesion simulates female pseudohermaphroditism. A five-year-old girl presented with clitoromegaly and a clinical diagnosis of solitary VM of the clitoris was made. Magnetic resonance imaging showed characteristic features and confirmed the diagnosis and the extent of the VM. This is the first reported case of isolated involvement of the clitoris by VM to be diagnosed preoperatively.
    Matched MeSH terms: Disorders of Sex Development/diagnosis
  7. M Selveindran N, Syed Zakaria SZ, Jalaludin MY, Rasat R
    Horm Res Paediatr, 2017;88(5):324-330.
    PMID: 28965114 DOI: 10.1159/000478780
    BACKGROUND/AIMS: Disorders of sex development (DSD) are a heterogeneous group of rare conditions. Evidence-based treatment is challenged by a lack of clinical longitudinal outcome studies. We sought to investigate the quality of life of children with DSD other than congenital adrenal hyperplasia.

    METHODS: The participants (aged 6-18 years) were 23 patients raised as males and 7 patients raised as females. Control data were obtained from representatives of the patients' siblings matched for age and gender. The Pediatric Quality of Life InventoryTM Version 4.0 (PedsQL) Generic Core Scales were used as the study tool.

    RESULTS: In comparison with the reference data, the patient group had significantly lower overall PedsQL (p < 0.01) and school functioning (p < 0.01) scores. Also, the total PedsQL score was significantly lower in patients with DSD who were of female social sex as compared to the controls who were females. Family income, surgical procedures, degree of virilization, and mode of puberty did not influence the PedsQL scores.

    CONCLUSION: This study revealed a poorer quality of life for patients with DSD as compared to the age-matched control group. This highlights the need for a skilled multidisciplinary team to manage this group of patients.

    Matched MeSH terms: Disorders of Sex Development/psychology*
  8. Abd Wahab AV, Lim LM, Mohamed Tarmizi MH
    J Pediatr Adolesc Gynecol, 2019 Feb;32(1):74-77.
    PMID: 30248506 DOI: 10.1016/j.jpag.2018.09.006
    BACKGROUND: Ovotesticular disorders of sex development is a condition defined as the presence of ovarian tissue containing ovarian follicles and testicular tissue containing seminiferous tubules in the same individual.

    CASE: We report on a 19-year-old who is phenotypically male, with a 46,XX/46,XY mosaicism karyotype, who presented later in life with cyclical abdominal pain that resembled menstrual cramps and unilateral undescended testes.

    SUMMARY AND CONCLUSION: He underwent laparoscopic hysterectomy and right salpingo-oophorectomy, resulting in cessation of his symptoms and improved sperm count.

    Matched MeSH terms: Ovotesticular Disorders of Sex Development/diagnosis; Ovotesticular Disorders of Sex Development/drug therapy; Ovotesticular Disorders of Sex Development/surgery*
  9. Cob ZC, Arshad A, Bujang JS, Abd Ghaffar M
    Environ Monit Assess, 2011 Jul;178(1-4):393-400.
    PMID: 20824325 DOI: 10.1007/s10661-010-1698-7
    Strombus canarium Linnaeus, 1758 is an important gastropod species within the study area and was traditionally collected for food by the locals. The objective of the present study is to assess the incidence of imposex and its severity in this species. Adult conchs were sampled during their main reproductive period, from October 2005 to January 2006, at Sungai Pulai estuary, Johor Straits, Malaysia. A total of 32.81% of adult females showed imposex characteristics, with varying degrees of severity though. The relative penis size (RPS) index ranged from 1.74 to 33.29 (mean = 13.40 ± 2.27, n = 21), while the relative penis length (RPL) index ranged from 6.28 to 55.19 (mean = 25.83 ± 3.33, n = 21). The use of vas deferens sequence (VDS) index was however cannot be applied as the presence of egg groove obscured any vas deferens development in affected females. Sequence of imposex (male penis) development in female conch, from merely a small stump to an advance male penis homologous was therefore carefully analyzed and described, and an alternative imposex classification scheme was proposed. S. canarium can be a good indicator for monitoring of organotin pollution within the study area. However, more studies are needed in order to further develop and test its validity and application, such as its correlation with levels of pollutant within the tissues and the environment, as well as its application on other Strombus species.
    Matched MeSH terms: Disorders of Sex Development/chemically induced; Disorders of Sex Development/veterinary*
  10. Schilthuizen M
    Trends Ecol Evol, 2005 Nov;20(11):581-4.
    PMID: 16701439
    Love darts are hard 'needles' that many snails and slugs use to pierce their partner during mating. In a few species, darts have been shown to play a role in sperm competition. Two new papers, by Davison et al., and Koene and Schulenburg, might further pique researchers' interest, because they show how the full potential of darts can be tapped for studies of sexual selection in hermaphrodites.
    Matched MeSH terms: Disorders of Sex Development
  11. Sani AM, Arif II, Arshad MM, Mungadi IA, Soh KG, Soh KL
    J Nurs Res, 2020 Feb;28(1):e67.
    PMID: 30855517 DOI: 10.1097/jnr.0000000000000313
    BACKGROUND: Disorders of sex development (DSD) affect the quality of life of people who live with this condition. In developing countries, diagnoses of DSD are associated with a delay in presentation until the patients developed ambiguous physical traits and features.

    PURPOSE: This study explores the menstrual experiences of people with DSD and sex reassignment in Nigeria.

    METHODS: A qualitative approach with a phenomenological study design was employed in this study to explore and describe the experiences of people with DSD at the Usmanu Danfodiyo University Teaching Hospital in Sokoto, Nigeria. The data were collected using face-to-face interviews, transcribed verbatim, and analyzed using NVivo software.

    RESULTS: The findings show that the participants experienced menstrual problems: men with menstruation and women with amenorrhea. The female participants generally described amenorrhea as a disappointment and linked menstruation with womanhood. Amenorrhea evinced both emotional and psychological effects. However, some of the female participants considered amenorrhea in a positive light and were happy with their lives without menstruation. The menstrual experiences of male participants included menarche, lower abdominal pain, regular monthly bleeding, and ovulation. The male participants described menstruation as a disaster in their lives and a source of anxiety, suicidal ideation, and depression. Menstruation negatively affected their psychosocial well-being.

    CONCLUSIONS: The menstrual experience of individuals with DSD negatively affects their quality of life. The women with DSD in this study showed a generally poor knowledge of menarche, menstruation, and puberty, indicating that their parents had ignored the initial symptoms of DSD. DSD were only recognized at puberty because of the development of ambiguous physical traits and of the onset of menstruation in men and the confirmation of amenorrhea in women.

    Matched MeSH terms: Disorders of Sex Development/complications*; Disorders of Sex Development/epidemiology; Disorders of Sex Development/psychology
  12. Mohamat-Yusuff F, Zulkifli SZ, Otake T, Harino H, Ismail A
    J Environ Biol, 2014 Sep;35(5):995-1003.
    PMID: 25204078
    The morphological expressions and histopathological analysis of the gonads of a tropical marine neogastropod species (Thais sp.) from East Malaysia revealed new evidence of mechanical sterility in the imposex affected females. The gradual development of imposex was classified into five stages (Stage 0 to Stage 4) with three types of sterility conditions; Type A caused prohibition of copulation and capsule formation; Type B prohibits the releasing process of eggs; and gonads in Type C are infertile. Further analysis is needed to confirm, if the gonad malformation in imposex affected snails is generated specifically by tributyltin (TBT) or by other possible factors. The levels of imposex incidence (stages and percentages) were greater in a marina and decreased with increasing distance from the marina. Organotin tissue burden across the sexes showed that dibutyltin (DBT) as well as TBT might be the elements inducing imposex in Thais sp. from Miri in East Malaysia.
    Matched MeSH terms: Disorders of Sex Development/chemically induced*
  13. Mohamed MS, Noor SN
    Sci Eng Ethics, 2015 Apr;21(2):429-40.
    PMID: 24664170 DOI: 10.1007/s11948-014-9534-z
    This article presents the Islamic bioethical deliberation on the issue of sex assignment surgery (SAS) for infants with disorders of sex development (DSD) or intersexed as a case study. The main objective of this study is to present a different approach in assessing a biomedical issue within the medium of the Maqasid al-Shari'ah. Within the framework of the maqasidic scheme of benefits and harms, any practice where benefits are substantial is considered permissible, while those promoting harms are prohibited. The concept of Maqasid al-Shari'ah which is the mechanistic interpretation of Qur'an and Hadith presents the holistic attention of Islam on many life activities, including healthcare. Indeed, this concept encompasses many aspects of worldly life, both for the human individual and collectively for the whole society. In healthcare, the practice of SAS on DSD newborns has presented an assortment of implications on the future livelihood of the affected individual. The process of decision-making seems to be very multifaceted since every element such as the determination of the 'correct' sex and the urgency of early surgery must consider the benefits and harms, as well as the child's rights and best interest. The application of the concept of Maqasid al-Shari'ah, would convey a pragmatic approach that is often disregarded in Western medicine. This approach considers the right of the individual to live life optimally, individually and socially and practice his faith, precisely, in accordance with the assigned gender.
    Matched MeSH terms: Disorders of Sex Development*
  14. Long FY, Lee MM
    Med J Malaysia, 1974 Jun;28(4):208-12.
    PMID: 4278402
    Matched MeSH terms: Disorders of Sex Development*
  15. Sani AM, Soh KL, Ismail IA, Arshad MM, Mungadi IA, Yau SL, et al.
    J Adv Nurs, 2019 Feb;75(2):277-290.
    PMID: 30132959 DOI: 10.1111/jan.13833
    AIM: The aim of this study was to synthesize the experiences of people with disorders of sex development.

    BACKGROUND: The quality of life of people with disorders of sex development depends largely on the availability of good psychosocial and psychosexual management. There is a lack of qualitative systematic reviews of the literature on the experiences of people with disorders of sex development.

    DESIGN: The seven steps of qualitative meta-ethnography were employed in this review.

    DATA SOURCES: The following electronic databases were systematically searched until January 2017: Science Direct, Scopus, Sage online, CINAHL, PsycINFO, Medline, Wiley Online Library, and Google Scholar. Search terms for this review were "disorders of sex development," "intersex," "ambiguous genitalia," "experiences," "qualitative study," and "method".

    REVIEW METHOD: A 13-item scale was applied to evaluate the quality of the selected studies and synthesized using the principles of meta-ethnography.

    FINDINGS: Twelve studies met the eligibility criteria. Six major themes described the experiences of people with disorders of sex development. These included a range of physical, psychological, social, and sexual experiences which affect their quality of life. Different coping strategies were employed by individuals who live with the lifelong condition.

    CONCLUSION: Disorders of sex development affect the quality of life of people living with these disorders. Nurses are tasked with providing holistic care for people with disorders of sex development in order to improve their quality of lives. As such, there is a need to explore the experiences of nurses in the management of disorders of sex development.

    Matched MeSH terms: Disorders of Sex Development/psychology*
  16. Elkarhat Z, Belkady B, Charoute H, Zarouf L, Razoki L, Aboulfaraj J, et al.
    Am J Med Genet A, 2019 08;179(8):1516-1524.
    PMID: 31207162 DOI: 10.1002/ajmg.a.61257
    The aim of the present study was to determine the frequency and nature of chromosomal abnormalities involved in patients with the clinical spectrum of ambiguous genitalia (AG), amenorrhea, and Turner phenotype, in order to compare them with those reported elsewhere. The study was conducted in the Cytogenetic Department of Pasteur Institute of Morocco, and it reports on the patients who were recruited between 1996 and 2016. Cytogenetic analysis was performed according to the standard method. Among 1,415 patients, chromosomal abnormalities were identified in 7.13% (48/673) of patients with AG, 17.39% (28/161) of patients with primary amenorrhea (PA), 4% (1/25) of patients with secondary amenorrhea, and 23.20% (129/556) of patients with Turner phenotype. However, Turner syndrome was diagnosed in 0.89% (6/673) of patients with AG, 10.56% (17/161) of patients with PA, and 19.78% (110/556) of patients with Turner phenotype. In addition, Klinefelter syndrome and mixed gonadal dysgenesis were confirmed in 2.97% and 1.93% of patients, respectively, with AG, while, chimerism, trisomy 8, and trisomy 13 were confirmed only in 0.15% each. Trisomy 21 was confirmed in patients with AG and Turner phenotype (0.15% and 0.36%, respectively). Moreover, 5.60% (9/161) of patients with PA have been diagnosed as having sex reversal. Thus, the frequency of chromosomal abnormalities observed in Moroccan patients with PA is comparable to that reported in Tunisia, Turkey, Iran, and Hong Kong. However, the frequency is significantly less than that identified in India, Malaysia, Italy, and Romania.
    Matched MeSH terms: Disorders of Sex Development/genetics*; Disorders of Sex Development/epidemiology; Disorders of Sex Development/pathology
  17. Ramachandram S, Keng WT, Ariffin R, Ganesan V
    J Genet, 2013;92(2):313-6.
    PMID: 23970090
    Matched MeSH terms: Sex Chromosome Disorders of Sex Development/genetics*
  18. Hatim H, Zainuddin AA, Anizah A, Kalok A, Daud TIM, Ismail A, et al.
    J Pediatr Adolesc Gynecol, 2021 Apr;34(2):161-167.
    PMID: 33189898 DOI: 10.1016/j.jpag.2020.11.009
    STUDY OBJECTIVE: To explore the effect of the diagnosis of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome on affected Malaysian women.

    DESIGN: Qualitative study with a quantitative component.

    SETTING: Pediatric and adolescent gynecology unit at Universiti Kebangsaan Malaysia Medical Centre, Malaysia.

    PARTICIPANTS: Twelve women with MRKH.

    INTERVENTIONS: Face-to-face interview and short questionnaire.

    MAIN OUTCOME MEASURES: Thematic analysis was used to understand participants' experiences.

    RESULTS: There were 7 themes identified: (1) delayed diagnoses; (2) doctors' roles and attitudes; (3) gender identity; (4) family and society's response; (5) reaction toward infertility; (6) managing sexual intimacy; and (7) coping mechanisms. Several participants consulted their physicians regarding their primary amenorrhea at an opportunistic setting. When they were referred to the gynecologists, they were dismayed at the lack of information given. The term, "MRKH" plays an important role to ease information-seeking. Participants felt that the doctors were insensitive toward them. Mental illness is a significant complication of MRKH. All participants acknowledged that infertility was the hardest part of the condition. The importance of blood lineage affects their outlook on childbearing options. Some were afraid of sexual intimacy and worried that they would not be able to satisfy their partners. Participants gained support and bonded with their counterparts in the MRKH support group.

    CONCLUSION: A multidisciplinary approach including medical, psychological, and social support is essential for the management of MRKH. Adequate information and sexual education plays the utmost importance in preventing social-related complications of MRKH.

    Matched MeSH terms: 46, XX Disorders of Sex Development
  19. Thambiah, Subashini Chellapah, Zalinah Ahmad, Zarida Hambali, Malina Osman, Munia Mohd Zain, Fuziah Md Zain, et al.
    MyJurnal
    A clinical descriptive study was done to determine the sociodemographic, laboratory and clinical characteristics of patients with congenital adrenal hyperplasia (CAH) referred to Hospital Putrajaya, a tertiary endocrine centre in Malaysia. Electronic laboratory data of 51 CAH patients were obtained. The demographics and clinical details of the study population were acquired from a questionnaire completed by parents of participants. There were 25 males (49%) and 26 females (51%), of which, 58.8% were Malays. Median age of participants was 4 years whilst median age at diagnosis of CAH was two years. Parental consanguinity was documented in three patients (5.9%). Patients originated from Johor (19.6%), Selangor (19.6%), Negeri Sembilan (17.6%) and Kedah (13.7%). Majority of patients were diagnosed after one week of life (80.4%) although more females were diagnosed under the age of one week compared to males (p=0.041). Most females presented with ambiguous genitalia (42.3%) [p=0.001] whereas 72% of males presented with salt wasting (p=0.003). No significant associations between race and all other variables, though interestingly three Malay patients presented with ambiguous genitalia and hypertension. Equal gender distribution noted as expected in an autosomal recessive condition, although not in keeping with other Asian countries. Early diagnosis in females attributed to obvious genital ambiguity at birth. Varied clinical presentation, although in minority, necessitates genetic studies for prompt diagnosis and treatment. Considering that majority of patients presented with salt wasting and the age at diagnosis was delayed, the introduction of a neonatal screening programme is essential in Malaysia.
    Matched MeSH terms: Disorders of Sex Development
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