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      Misdiagnosis of Mullerian agenesis in a patient with 46, XX gonadal dysgenesis: a missed opportunity for prevention of osteoporosis

      1 , 1 , 1 , 1 , 1
      Endocrinology, Diabetes & Metabolism Case Reports
      Bioscientifica Ltd
      Adolescent/young adult, Female, Asian - other, Thailand, Ovaries, Gynaecological endocrinology, Oestrogens, FSH, LH, Oestradiol (E2), Progesterone, Gonadal dysgenesis, Osteoporosis, Amenorrhoea (primary), Sexual development disorders, Hypergonadotropic hypogonadism, Amenorrhoea, Osteopenia, Osteoporosis, Hypogonadism, Uterine hypoplasia*, FSH, LH, Oestradiol (E2), MRI, Chromosomal analysis, DEXA scan, Ultrasound scan, Oestrogens, Premarin, Vitamin D, Calcium, Medroxyprogesterone acetate, Gynaecology, Error in diagnosis/pitfalls and caveats, December, 2019

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          Primary amenorrhea could be caused by disorders of four parts: disorders of the outflow tract, disorders of the ovary, disorders of the anterior pituitary, and disorders of hypothalamus. Delay in diagnosis and hormone substitution therapy causes secondary osteoporosis. Herein, we report a case of a 23-year-old phenotypical female who presented with primary amenorrhea from 46, XX gonadal dysgenesis but had been misdiagnosed as Mayer–Rokitansky–Kuster–Hauser (MRKH) syndrome or Mullerian agenesis. The coexistence of gonadal dysgenesis and MRKH was suspected after laboratory and imaging investigations. However, the vanishing uterus reappeared after 18 months of hormone replacement therapy. Therefore, hormone profiles and karyotype should be thoroughly investigated to distinguish MRKH syndrome from other disorders of sex development (DSD). Double diagnosis of DSD is extremely rare and periodic evaluation should be reassessed. This case highlights the presence of estrogen deficiency state, the uterus may remain invisible until adequate exposure to exogenous estrogen.

          Learning points:
          • An early diagnosis of disorders of sex development (DSD) is extremely important in order to promptly begin treatment, provide emotional support to the patient and reduce the risks of associated complications.

          • Hormone profiles and karyotype should be investigated in all cases of the presumptive diagnosis of Mayer–Rokitansky–Kuster–Hauser (MRKH) syndrome or Mullerian agenesis.

          • The association between 46, XX gonadal dysgenesis and Mullerian agenesis has been occasionally reported as a co-incidental event; however, reassessment of the presence of uterus should be done again after administration of exogenous estrogen replacement for at least 6–12 months.

          • A multidisciplinary approach is necessary for patients presenting with DSD to ensure appropriate treatments and follow-up across the lifespan of individuals with DSD.

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          Most cited references9

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          Clinical aspects of Mayer-Rokitansky-Kuester-Hauser syndrome: recommendations for clinical diagnosis and staging.

          The Mayer-Rokitansky-Kuester-Hauser (MRKH) syndrome is a malformation of the female genitals (occurring in one in 4000 female live births) as a result of interrupted embryonic development of the Müllerian (paramesonephric) ducts. This retrospective study examined the issue of associated malformations, subtyping, and the frequency distribution of subtypes in MRKH syndrome. Fifty-three MRKH patients were investigated using a newly developed standardized questionnaire. Together with the results of clinical and diagnostic examinations, the patients were classified into the three recognized subtypes [typical, atypical and MURCS (Müllerian duct aplasia, renal aplasia, and cervicothoracic somite dysplasia)]. The typical form was diagnosed in 25 patients (47%), the atypical form in 11 patients (21%), and the most marked form-the MURCS type-in 17 patients (32%). Associated malformations were notably frequent among the patients. Malformations of the renal system were the most frequent type of accompanying malformation, with 23 different malformations in 19 patients, followed by 18 different skeletal changes in 15 patients. In accordance with the literature, this study shows that associated malformations are present in more than a third of cases. Therefore, new basic guidelines for standard diagnostic classification involving patients with suspected MRKH are presented.
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            Disorders of sex development: new genes, new concepts.

            Formerly known as 'intersex' conditions, disorders of sex development (DSDs) are congenital conditions in which chromosomal, gonadal or anatomical sex is atypical. A complete revision of the nomenclature and classification of DSDs has been undertaken, which emphasizes the genetic aetiology of these disorders and discards pejorative terms. Uptake of the new terminology is widespread. DSDs affecting gonadal development are perhaps the least well understood. Unravelling the molecular mechanisms underlying gonadal development has revealed new causes of DSDs, although a specific molecular diagnosis is made in only ∼20% of patients. Conversely, identification of the molecular causes of DSDs has provided insight into the mechanisms of gonadal development. Studies of N-ethyl-N-nitrosourea mutagenesis in the mouse, and multigene diagnostic screening and genome-wide approaches, such as array-comparative genomic hybridization and next-generation sequencing, in patients with DSDs are accelerating the discovery of genes involved in gonadal development and DSDs. Furthermore, long-range gene regulatory mutations and multiple gene mutations are emerging as new causes of DSDs. Patients with DSDs, their parents and medical staff are confronted with challenging decisions regarding gender assignment, genital surgery and lifelong care. These advances are refining prognostic prediction and systematically improving the diagnosis and long-term management of children with DSDs.
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              Management of disorders of sex development.

              The medical term disorders of sex development (DSDs) is used to describe individuals with an atypical composition of chromosomal, gonadal and phenotypic sex, which leads to differences in the development of the urogenital tract and reproductive system. A variety of genetic factors have been identified that affect sex development during gonadal differentiation or in specific disorders associated with altered androgen biosynthesis or action. The diagnosis of DSDs in individuals and the subsequent management of patients and their families requires a targeted and structured approach, involving a multidisciplinary team with effective communication between the disciplines. This approach includes distinct clinical, imaging, laboratory and genetic evaluations of patients with DSDs. Although treatment of patients with DSDs can include endocrine and surgical options, many patients have concerns that arise from past incorrect treatments that were founded on the traditional binary concept of the sexes. To dispel these concerns, it is necessary to create centres of expertise for DSDs that include physicians, surgeons, psychologists and specialists in diagnostic procedures to manage patients and their families. Additionally, the inclusion of trained peer support in the multidisciplinary DSD team seems to be integral to the supportive management of patients with DSDs. Most importantly, dealing with DSDs requires acceptance of the fact that deviation from the traditional definitions of gender is not necessarily pathologic.

                Author and article information

                Endocrinol Diabetes Metab Case Rep
                Endocrinol Diabetes Metab Case Rep
                Endocrinology, Diabetes & Metabolism Case Reports
                Bioscientifica Ltd (Bristol )
                14 November 2019
                : 2019
                : 19-0122
                [1 ]Diabetes and Thyroid Center , Theptarin Hospital, Bangkok, Thailand
                Author notes
                Correspondence should be addressed to Y Thewjitcharoen; Email: kamijoa@ 123456hotmail.com
                © 2019 The authors

                This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License..

                : 11 November 2019
                : 14 November 2019
                Adolescent/Young Adult
                Asian - Other
                Gynaecological endocrinology
                Oestradiol (E2)
                Gonadal dysgenesis
                Amenorrhoea (primary)
                Sexual development disorders
                Hypergonadotropic hypogonadism
                Uterine hypoplasia*
                Oestradiol (E2)
                Chromosomal analysis
                DEXA scan
                Ultrasound scan
                Vitamin D
                Medroxyprogesterone acetate
                Error in Diagnosis/Pitfalls and Caveats
                Error in Diagnosis/Pitfalls and Caveats

                adolescent/young adult,female,asian - other,thailand,ovaries,gynaecological endocrinology,oestrogens,fsh,lh,oestradiol (e2),progesterone,gonadal dysgenesis,osteoporosis,amenorrhoea (primary),sexual development disorders,hypergonadotropic hypogonadism,amenorrhoea,osteopenia,hypogonadism,uterine hypoplasia*,mri,chromosomal analysis,dexa scan,ultrasound scan,premarin,vitamin d,calcium,medroxyprogesterone acetate,gynaecology,error in diagnosis/pitfalls and caveats,december,2019


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