Gonadal Dysgenesis 46, XX Associated with Mayer-Rokitansky-Kuster-Hauser Syndrome: One Case Report

Introduction. The association of gonadal dysgenesis and Mayer-Rokitansky-Kuster-Hauser syndrome is very rare and appears to be coincidental, independent of chromosomal anomalies.Case Report. We report the case of a 19-year-old woman who presented primary amenorrhea and impuberism. The endocrine study revealed hypergonadotrophic hypogonadism. The karyotype was normal, 46XX. No chromosome Y was detected at the FISH analysis. Internal genitalia could not be identified on the pelvic ultrasound and pelvic MRI. Laparoscopy was undertaken and revealed concomitant ovarian dysgenesis and Mayer-Rokitansky-Kuster-Hauser syndrome. There were no other morphological malformations.Conclusion. The pathogenesis of the association of gonadal dysgenesis and Mayer Rokitansky kuster hauser syndrome is still mysterious. The treatment is based essentially on hormone substitution therapy. The fertility prognosis is unfortunately compromised.

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

Journal of Nepal Medical Association ◽

10.31729/jnma.4287 ◽

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

Endocrinology Diabetes and Metabolism Case Reports ◽

10.1530/edm-19-0122 ◽

2019 ◽

Vol 2019 ◽

Cited By ~ 1

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.

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Amenorrea primaria y disgerminoma en una paciente con disgenesia gonadal pura, reporte de caso

Revista Colombiana de Endocrinología, Diabetes & Metabolismo ◽

10.53853/encr.3.4.15 ◽

2017 ◽

Vol 3 (4) ◽

pp. 36-38

Author(s):

Diego Armando Guerrero Gómez ◽

Yessica Agudelo Zapata ◽

Hector Sandoval Alzate ◽

Luis Maldonado Acosta ◽

Juan Manuel Arteaga Díaz ◽

...

Keyword(s):

Case Report ◽

Primary Care Physicians ◽

Gonadal Dysgenesis ◽

Primary Amenorrhea ◽

Clinical Approach ◽

Proper Treatment ◽

Diagnostic Challenge ◽

Ovarian Dysgerminoma ◽

Swyer Syndrome ◽

Rule Out

La amenorrea primaria representa un reto diagnóstico para el médico general y especialista, dado que el espectro etiológico es amplio y se requiere de un adecuado enfoque para garantizar una correcta orientación terapéutica.Se presenta el caso de una paciente de 18 años de edad con amenorrea primaria, quien a los 15 años presentó cuadro de abdomen agudo por disgerminoma ovárico. Cariotipo reportado como 46XY, configuró el diagnóstico de disgenesia gonadal pura o síndrome de Swyer.El presente reporte de caso ilustra los principales hallazgos de la disgenesia gonadal pura y ejemplifica el abordaje secuencial diagnóstico de una paciente con amenorrea primaria.Abstract Primary amenorrhea is a diagnostic challenge for Specialists and Primary Care Physicians, for proper treatment is required to perform a clinical approach and rule out differential diagnoses.This is a case report of a 18 years old patient with primary amenorrhea, who at age of 15 years old presented acute abdomen for ovarian dysgerminoma. Karyotype reported 46XY, and pure gonadal dysgenesis (Swyer syndrome) was diagnosed. This case report illustrates the main clinical features of pure gonadal dysgenesis and the primary amenorrhea›s clinical approach.

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A Small Supernumerary Xp Marker Chromosome Including Genes NR0B1 and MAGEB Causing Partial Gonadal Dysgenesis and Gonadoblastoma

Sexual Development ◽

10.1159/000517085 ◽

2021 ◽

pp. 1-9

Author(s):

Mirian Yumie Nishi ◽

José Antônia Diniz Faria Júnior ◽

Ana Cristina Victorino Krepischi ◽

Daniela Rodrigues de Moraes ◽

Silvia Souza da Costa ◽

...

Keyword(s):

Gonadal Dysgenesis ◽

Marker Chromosome ◽

Copy Number Variations ◽

Breast Development ◽

Chromosomal Microarray ◽

Primary Amenorrhea ◽

Chromosomal Microarray Analysis ◽

Fish Analysis ◽

Sex Development ◽

Partial Gonadal Dysgenesis

Copy number variations of several genes involved in the process of gonadal determination have been identified as a cause of 46,XY differences of sex development. We report a non-syndromic 14-year-old female patient who was referred with primary amenorrhea, absence of breast development, and atypical genitalia. Her karyotype was 47,XY,+mar/46,XY, and FISH analysis revealed the X chromosome origin of the marker chromosome. Array-CGH data identified a pathogenic 2.0-Mb gain of an Xp21.2 segment containing NR0B1/DAX1 and a 1.9-Mb variant of unknown significance from the Xp11.21p11.1 region. This is the first report of a chromosomal microarray analysis to reveal the genetic content of a small supernumerary marker chromosome detected in a 47,XY,+der(X)/46,XY karyotype in a non-syndromic girl with partial gonadal dysgenesis and gonadoblastoma. Our findings indicate that the mosaic presence of the small supernumerary Xp marker, encompassing the NR0B1/DAX1 gene, may have been the main cause of dysgenetic testes development, although the role of MAGEB and other genes mapped to the Xp21 segment could not be completely ruled out.

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ÜBER DIE BILDUNG VON ENDOMETRIALEN KÖRNCHENZELLEN BEI KASTRATINNEN UNTER HORMONEINFLUSS

Acta Endocrinologica ◽

10.1530/acta.0.xxxiii0261 ◽

1960 ◽

Vol XXXIII (II) ◽

pp. 261-276 ◽

Cited By ~ 9

Author(s):

G. Hellweg ◽

J. Ferin ◽

K. G. Ober

Keyword(s):

Hormone Therapy ◽

Stromal Cells ◽

Sex Hormone ◽

Substitution Therapy ◽

Secretory Phase ◽

Hormone Substitution ◽

Endometrial Stromal Cells ◽

Endometrial Stroma ◽

K Cells

ABSTRACT 65 endometrial biopsies from castrated women who had received either natural or artificial sex hormone therapy were studied microscopically. Attention was paid to various histologic criteria, especially to the number of endometrial granulocytes (»K« cells, KZ). The following was obtained: The »K« cells are completely absent when no hormone substitution therapy is given. They were also lacking when the castrated patients were treated only with oestrogens, even if the dose given was ten-times that found in women during the reproductive ages. In contrast, the »K« cells developed from the endometrial stromal cells only under influence of progesterone, usually appearing first 8–10 days after the administration of the gestagen. The »K« cells were demonstrable in the number corresponding to a normal secretory phase only then, when the oestrogen-progesterone dosage ratio had induced a fully-developed secretory change, as measured by the usual histologic criteria. With an overdosage of oestrogen the »K« cells were either absent or were very sparse. Contrarily, an overdosage of progesterone had no influence on their number. The development of endometrial glands does not always entirely parallel that of the stroma in castrated patients following hormone therapy. A more exact indicator for the proper dose for the production of a secretory phase by hormone therapy seems to be the number of »K« cells in the endometrial stroma.

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A rare case report of 46XY mixed gonadal dysgenesis

Indian Journal of Endocrinology and Metabolism ◽

10.4103/2230-8210.119601 ◽

2013 ◽

Vol 17 (7) ◽

pp. 268 ◽

Cited By ~ 2

Author(s):

Sujoy Ghosh ◽

Satinath Mukhopadhyay ◽

Subhankar Chowdhury ◽

Rakesh Arora ◽

Saumik Datta ◽

...

Keyword(s):

Case Report ◽

Gonadal Dysgenesis ◽

Rare Case ◽

Mixed Gonadal Dysgenesis ◽

Rare Case Report

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DYSGERMINOMA WITH ATYPICAL, MIXED GONADAL DYSGENESIS. A Case Report with Chromosomal Investigation of Patient and Tumour

BJOG An International Journal of Obstetrics & Gynaecology ◽

10.1111/j.1471-0528.1967.tb03949.x ◽

1967 ◽

Vol 74 (1) ◽

pp. 137-138 ◽

Cited By ~ 1

Author(s):

S. A. Seligman

Keyword(s):

Case Report ◽

Gonadal Dysgenesis ◽

Mixed Gonadal Dysgenesis

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Coexistence of Mayer Rokitansky Kuster Hauser syndrome and gonadal dysgenesis in a 46XX girl: A case report.

Journal of Medical Case Reports and Case Series ◽

10.38207/jmcrcs/2021/0219249 ◽

2021 ◽

Keyword(s):

Case Report ◽

Gonadal Dysgenesis

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The adjunctive value of diffusion weighted imaging in diagnosis and follow up of uterovaginal diffuse B-cell lymphoma: A case report and literature review.

Current Medical Imaging Formerly Current Medical Imaging Reviews ◽

10.2174/1573405617666210120094711 ◽

2021 ◽

Vol 17 ◽

Author(s):

Gehad A. Saleh ◽

Reham Alghandour ◽

Eman Y Rashad ◽

Ahmed M Tawfik ◽

Ali H. Elmokadem

Keyword(s):

Case Report ◽

B Cell ◽

Diffusion Weighted Imaging ◽

Cell Lymphoma ◽

B Cell Lymphoma ◽

Diagnostic Methods ◽

Pelvic Mri ◽

Diffusion Weighted ◽

Large B Cell

Background: Lymphoma of the female gynecologic tract is extremely rare. Typically, lymphoma is managed non surgically unlike other non-lymphomatous malignant tumors raising the importance to differentiate between both entities. Case report: We describe the magnetic resonance imaging (MRI) features of a case of uterovaginal diffuse large B-cell lymphoma in a 50-year-old postmenopausal woman emphasizing Diffusion-Weighted Imaging (DWI) as a diagnostic and follow up tool. We reviewed the literature regarding the diagnostic methods for female genital lymphoma. Forty-five cases including our patient were reviewed with age range from 22 to 85 years. Vaginal bleeding was the most common presentation. The diagnosis was established by Papanicolaou smear, cervical biopsy (25/45), endometrial biopsy (6/45), vaginal biopsy (2/45), pelvic mass biopsy (2/45), iliac LN biopsy (1/45) and surgical diagnosis (8/45). Diffuse large B-cell lymphomas (DLBCL) constitute the vast majority of the cases (82%). The uterine cervix was involved at diagnosis in the majority of these cases (68%) while uterine body (42%) and vagina (28%) were less involved. Pelvic lymphadenopathy was found in 15 cases while extra genital lymphomatous infiltration in 13 cases. Sonographic findings were nonspecific while CT provided excellent data about extra-genital involvement. Thirteen cases underwent pelvic MRI that displayed superior detection of disease extension and parametric involvement. Diffusion restriction was reported only in one case without quantitative analysis of ADC map. Conclusion: MRI shows unique features that help to differentiate uterovaginal lymphoma from the much more common carcinomas and discriminate post-operative changes from tumor recurrence. It exhibits a marked restricted diffusion pattern with lower ADC values than carcinomas and post-operative changes.

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