The Coexistence of Gonadal Dysgenesis With Mayer-rokitansky-küster-hauser Syndrome, and Dandy-Walker Variant

Background: Gonadal dysgenesis, the most common cause of primary amenorrhea, is characterized by absent or underdeveloped ovaries. Although the coexistence of gonadal dysgenesis and Mayer-Rokitansky-Küster-Hauser (MRKH) has been reported, it is still quite infrequent. To the extent that authors searched, just one study reported the association between Rokitansky sequence and Dandy-Walker malformation. Clinical Presentation and Intervention: We aimed to report a case with gonadal dysgenesis, MRKH, and the Dandy-Walker variant. In this care report, the authors reported a 15-year-old girl with primary amenorrhea and underdeveloped secondary sexual properties. Her karyotype was 46, XX. The abdominopelvic MRI without contrast demonstrated bilateral ovarian agenesis and no uterus or cervix. Vagina was normal in length. Brain MRI was consistent with the Dandy-Walker variant. Conclusion: Although some affected chromosomal regions have been identified, further genetic analyses should be performed to elucidate the probable association between these anomalies.

Download Full-text

Posterior Fossa Cyst and Hydrocephalus

Pediatric Neurosurgery ◽

10.1093/med/9780190617073.003.0027 ◽

2019 ◽

pp. 239-245

Author(s):

Peter J. Morone ◽

John C. Wellons

Keyword(s):

Posterior Fossa ◽

Imaging Modality ◽

Brain Mri ◽

Mass Effect ◽

Dandy Walker Malformation ◽

Treatment Indications ◽

Posterior Fossa Cyst ◽

Walker Malformation ◽

4Th Ventricle ◽

Foramen Of Luschka

A Dandy-Walker malformation is an anatomical triad characterized by a large posterior fossa, agenesis of the cerebellar vermis, and dilation of the 4th ventricle. Up to 90% of patients will have hydrocephalus secondary to obstruction of fourth ventricular outflow through the foramen of Luschka and Magendie. The differential diagnosis of Dandy-Walker malformation includes Blake’s pouch cyst, a cystic structure originating within the roof of the 4th ventricle that herniates into the cisterna magna, and posterior fossa arachnoid cysts, which typically displace both the cerebellum and 4th ventricle anteriorly and demonstrate a propensity to enlarge. Brain MRI is the best diagnostic imaging modality to evaluate posterior fossa anatomy and cystic structures. Not all posterior fossa cysts require treatment. Indications for surgical intervention include enlargement, symptomatic mass effect and/or hydrocephalus.

Download Full-text

Complete gonadal dysgenesis analysis in the population of Latvia: malignant outcomes and a review of literature

Medicine and Pharmacy Reports ◽

10.15386/mpr-2064 ◽

2021 ◽

Author(s):

Alise Jakovleva ◽

Zanna Kovalova

Keyword(s):

Median Time ◽

Gonadal Dysgenesis ◽

Additional Patient ◽

Delayed Puberty ◽

Primary Amenorrhea ◽

Secondary Sexual Characteristics ◽

Sexual Characteristics ◽

Swyer Syndrome ◽

Complete Gonadal Dysgenesis ◽

Secondary Sexual

Background and aim. Complete gonadal dysgenesis or Swyer syndrome is a rare genetic disorder characterized by 46,XY karyotype and female phenotype with undeveloped streak gonads and high malignancy risk. The condition usually manifests in teenage and young adults with delayed puberty and primary amenorrhea. The purpose of this study was to investigate the incidence and potential malignant outcomes of complete gonadal dysgenesis in Latvia. Methods. 37 patients were included in a retrospective study from 1996 to 2016. In fifteen cases, additional patient information was available. Information from medical records was collected on age at the time of diagnosis: anamnesis data, laboratory results, histology of gonads, and treatment. Results. Complete gonadal dysgenesis with karyotype 46,XY was proven in 36 (97.3%) cases and one (2.7%) case with karyotype 47,XY,+21. The average age of patients at the time of diagnosis was 15.4 ± 8.0 years. The study included 15 cases: eight patients (53.3%) were investigated for primary amenorrhea, and incomplete development of secondary sexual characteristics, 5 patients (33.3%) with abdominal pain and lower abdominal mass, 2 patients (13.3%) were diagnosed at birth. Gonadectomy was performed in 12 cases (80%). The median time between diagnosis and gonadectomy was 0.4 ± 4.3 years. The histopathology results from the gonadal biopsy showed malignancy in 7 cases (58.3%). The most commonly diagnosed tumors were dysgerminoma and gonadoblastoma. Conclusion. Early diagnosis of Swyer syndrome is necessary in view of the risk of malignancy that can develop at a young age. In several cases, the diagnosis of the syndrome was made only after the malignant process development. The study showed the median time between diagnosis and gonadectomy was suboptimal. Therefore, women with amenorrhea and lack of secondary sexual characteristics require careful investigation.

Download Full-text

Congenital Disorder of Glycosylation IId (CDG-IId) - A New Entity: Clinical Presentation with Dandy-Walker Malformation and Myopathy

Neuropediatrics ◽

10.1055/s-2002-23597 ◽

2002 ◽

Vol 33 (1) ◽

pp. 27-32 ◽

Cited By ~ 38

Author(s):

V. Peters ◽

J. M. Penzien ◽

G. Reiter ◽

C. Körner ◽

R. Hackler ◽

...

Keyword(s):

Clinical Presentation ◽

Congenital Disorder ◽

Congenital Disorder Of Glycosylation ◽

Dandy Walker Malformation ◽

Walker Malformation

Download Full-text

Primary Amenorrhoea with Pituitary Dwarfism: A rare case report

Research in Pharmacy and Health Sciences ◽

10.32463/rphs.2016.v02i02.28 ◽

2016 ◽

Vol 2 (2) ◽

pp. 145-147

Author(s):

Siva S ◽

Divya Gopineni ◽

Shafi P ◽

Chandra Sekhar

Keyword(s):

Pituitary Gland ◽

General Medicine ◽

Pituitary Hormones ◽

Thyroid Stimulating Hormone ◽

Primary Amenorrhea ◽

Pituitary Dwarfism ◽

Primary Amenorrhoea ◽

Sexual Characteristics ◽

Loss Of Appetite ◽

Secondary Sexual

Females with pituitary dwarfism and a multiple deficiency of pituitary hormones show ovarian dysfunction due to hypogonadotropism. Primary amenorrhea can be diagnosed if a patient has normal secondary sexual characteristics but no menarche by 16 years of age. A 16 year-old female patient admitted in general medicine department with chief complaints of shortness of breath on exertion since 15 days, swelling of both legs since 10 days, loss of weight since 5 months, loss of appetite since 3 months, history of pain during swallowing. Pelvis scan examination reveals that uterus measures 3.2×0.5×0.5cm; uterus is hypo plastic, ovaries not visualized. Patient parents reveled that from patient birth to 11years of age her growth and other developments were normal, after that her growth is stopped and no changes were observed in development since 5 years. Patient has hypothyroidism so pituitary gland make an important role to maintain hormone levels, pituitary gland produces thyroid stimulating hormone (TSH) which stimulates thyroid gland to produce thyroid hormones. Primary Amenorrhea, short stature and poorly developed secondary sexual characters which could have been contributed and should be subjected for karyotyping. This type of Pituitary Dwarfism is very difficult to manage.

Download Full-text