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Fulltext Persistent Mullerian Duct Syndrome: a rare entity with a rare presentation in need of multidisciplinary management

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*

Fulltext Solitary vascular malformation of the clitoris

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

The current state of diagnostic genetics for conditions affecting sex development

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*

Ovotesticular Disorders of Sex Development: Improvement in Spermatogonia after Removal of Ovary and Müllerian Structures

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

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