Misdiagnosis of Mullerian agenesis coexisting with gonadal dysgenesis: A clandestine uterus by estrogen deficiency

2021 ◽  
Author(s):  
Iori Kisu ◽  
Kouji Banno ◽  
Nobumaru Hirao
Keyword(s):  
Gonadal Dysgenesis ◽  
Estrogen Deficiency ◽  
Müllerian Agenesis

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

2019 ◽  
Vol 2019 ◽  
Author(s):  
Yotsapon Thewjitcharoen ◽  
Veekij Veerasomboonsin ◽  
Soontaree Nakasatien ◽  
Sirinate Krittiyawong ◽  
Thep Himathongkam
Keyword(s):  
Gonadal Dysgenesis ◽  
Hormone Replacement ◽  
Disorders Of Sex Development ◽  
Primary Amenorrhea ◽  
List Type ◽  
Hormone Substitution ◽  
Mrkh Syndrome ◽  
Sex Development ◽  
Exogenous Estrogen ◽  
Müllerian Agenesis

Summary 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.

scholarly journals Possibilities of HRT in solving the problem of psychosocial adaptation of girls with primary estrogen deficiency

2003 ◽  
Vol 52 (3) ◽  
pp. 69-74
Author(s):  
Е. V. Uvarova ◽  
N. E. Kharlamenkova ◽  
N. А. Astakhova ◽  
I. P. Meshkova
Keyword(s):  
Hormone Replacement Therapy ◽  
Replacement Therapy ◽  
Gonadal Dysgenesis ◽  
Hormone Replacement ◽  
Psychosocial Adaptation ◽  
Estrogen Deficiency ◽  
Adaptive Responses ◽  
Sex Reversion ◽  
Passport Data ◽  
First Time

This study presents the results of testing the hypothesis that girls during the period of normally proceeding puberty experience much more emotional discomfort, difficulties in communication and self-acceptance due to more pronounced hormonal and bodily changes than normally developing boys. Along with this, for the first time, results are presented that indicate some similarity of adaptive responses in boys with normal puberty and in girls with primary estrogen deficiency on the background of hormone replacement therapy (HRT). The development of girls with 450-gonadal dysgenesis (with Turner syndrome) on the background of HRT is considered as adaptive to the tasks of age, less than their passport data. Girls with XY-sex reversion with gonadal dysgenesis are assessed as sufficiently adapted due to certain personal and age characteristics.

scholarly journals Primary Amenorrhoea - Analysis of 44 cases

1970 ◽  
Vol 23 (2) ◽  
pp. 46-50
Author(s):  
Quorrata Eynul Forhad ◽  
Sumayya Tasnim ◽  
Anowara Begum
Keyword(s):  
Clinical Examination ◽  
Gonadal Dysgenesis ◽  
Cytogenetic Study ◽  
Hormone Replacement ◽  
Final Diagnosis ◽  
Diagnostic Tools ◽  
Primary Amenorrhoea ◽  
Müllerian Agenesis ◽  
Wrong Diagnosis ◽  
Laboratory Investigations

Objective: To determine the etiologic factors responsible for primary amenorrhoea on the basis of clinical examination and laboratory investigations. Materials & Methods: This retrospective study was done in a private setting from the records of the patients between January 2005 - December 2007. Results: During three years of study period, 44 cases of primary amenorrhoea were analyzed. Two most common etiologic factors were mullerian agenesis (36.3%) and gonadal dysgenesis (29.5%). Range of average age of the patients when they first consulted the physician was 13- 32 years. Karyotyping was done on 10 of13 cases of gonadal dysgenesis; 46, XX karyotype was found in 50% and 45, XO in 10% of analyzed cases. Clinical examination gave wrong diagnosis of absent uterus in two cases who were in the hypoestrogenic stage with hypoplastic uterus; ultrasonography gave the wrong diagnosis in one case in this study. These patients successfully menstruated after hormone replacement therapy. Conclusion: The etiologic causes and cytogenetic study of primary amenorrhoea in our study is different from earlier reports. Racial and environmental differences may play a role in these differences. The facilities for diagnostic tools may also play a part. Both clinical examinations and many laboratory investigations have to be completed before final diagnosis of etiologic causes of primary amenorrhoea are elucidated. Diagnosis based on inadequate data can be misleading. DOI: 10.3329/bjog.v23i2.4958 Bangladesh J Obstet Gynaecol, 2008; Vol. 23(2) : 46-50

scholarly journals Coexistence of Gonadal Dysgenesis and Mullerian Agenesis in a Female with 46 XX Karyotype: A Case Report

2019 ◽  
Vol 57 (216) ◽  
Author(s):  
Santosh Kumar Jha ◽  
Rosina Manandhar ◽  
Veena Rani Shrivastava
Keyword(s):  
Gonadal Dysgenesis ◽  
Normal Development ◽  
Primary Amenorrhea ◽  
Hypergonadotropic Hypogonadism ◽  
Pelvic Mri ◽  
Secondary Sexual Characteristics ◽  
Sexual Characteristics ◽  
Internal Genitalia ◽  
Müllerian Agenesis ◽  
Congenital Aplasia

Gonadal dysgenesis is a rare genetically heterogeneous disorder characterized by underdeveloped ovaries with consequent, impuberism, primary amenorrhea, and hypergonadotropic hypogonadism .Mullerian agenesis or Mayer‑Rokitansky‑Kuster‑Hauser syndrome is characterized by congenital aplasia of the uterus and the upper part (2/3) of the vagina in a woman with normal development of secondary sexual characteristics and a normal 46 XX karyotype. The association of gonadal dysgenesis and Mayer-Rokitansky-Kuster-Hauser syndrome is very rare and appears to be coincidental. We report the case of a 24-year-old woman who presented with primary amenorrhea. The endocrine study revealed hypergonadotrophic hypogonadism. The karyotype was normal, 46XX. Internal genitalia could not be identified on the pelvic ultrasound and pelvic MRI. There were no other morphological malformations.

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