Incidental gonadoblastoma in swyer syndrome: a case report with brief review of literature

Swyer syndrome is a disorder of sexual differentiation with an incidence of 1 in 80,000 population. Dysgenetic gonads have a propensity for malignant transformation particularly in the presence of Y chromosome and hence need prophylactic removal. We report a case of an adolescent girl who presented with primary amenorrhea who was identified as a case of 46 XY dysgenesis after karyotype studies. Extirpation of gonads were done laparoscopically and on histopathological assessment gonadoblastoma was detected. This case report aims to reiterate the importance of gonadectomy in patients with swyer syndrome as tumors could arise even in the absence of frank adnexal masses.

Download Full-text

Familial imperforate hymen in an adolescent girl: presenting as acute lower abdominal pains and distention − a case report and review of literature

Journal of Medicine in the Tropics ◽

10.4103/jomt.jomt_46_19 ◽

2020 ◽

Vol 22 (2) ◽

pp. 153

Author(s):

ChidiebereNwakamma Ononuju ◽

YakubuAhmed Ashuku ◽

LuckyLohnan Changkat ◽

UzomaEmmanuel Chinaka ◽

ElizabethChioma Ezeaku ◽

...

Keyword(s):

Case Report ◽

Adolescent Girl ◽

Review Of Literature ◽

Imperforate Hymen

Download Full-text

The malignant transformation of osteoid osteoma in the cervical spine to high-grade osteosarcoma: a case report and review of literature

British Journal of Neurosurgery ◽

10.1080/02688697.2020.1842326 ◽

2020 ◽

pp. 1-5

Author(s):

Takaaki Sugiyama ◽

Kazunari Fushimi ◽

Akihito Nagano ◽

Masanori Tsugita ◽

Satoshi Nozawa ◽

...

Keyword(s):

Case Report ◽

Cervical Spine ◽

Malignant Transformation ◽

Osteoid Osteoma ◽

High Grade ◽

Review Of Literature ◽

High Grade Osteosarcoma

Download Full-text

Squamous Cell Carcinoma Arising in Mature Cystic Teratoma of the Ovary: A Case Report with Review of Literature

Journal of SAFOG with DVD ◽

10.5005/jp-journals-10006-1149 ◽

2011 ◽

Vol 3 (3) ◽

pp. 135-137

Author(s):

R Kalyani ◽

BN Gayathri ◽

K Vidyavathi

Keyword(s):

Squamous Cell Carcinoma ◽

Case Report ◽

Cell Carcinoma ◽

Malignant Transformation ◽

Germ Cells ◽

Cystic Teratoma ◽

Mature Cystic Teratoma ◽

Secondary Development ◽

Review Of Literature ◽

Ovarian Masses

ABSTRACT Up to a quarter of ovarian masses originate from germ cells and many of these are mature cystic teratomas (MCT). The secondary development of malignancy is a rare but well-known phenomenon in patient with ovarian teratomas. The incidence of malignant transformation in mature cystic teratoma of the ovary is less than 2% as reported in gynecological and pathological literature. Here, we present a case of malignant transformation in MCT of the ovary.

Download Full-text

Malignant Transformation of Parotid Gland Non-sebaceous Lymphadenoma: Case Report and Review of Literature

Head and Neck Pathology ◽

10.1007/s12105-020-01133-3 ◽

2020 ◽

Vol 14 (4) ◽

pp. 1123-1128 ◽

Cited By ~ 2

Author(s):

Hakan Kara ◽

Said Sönmez ◽

Sidar Bağbudar ◽

Mine Güllüoğlu ◽

Bora Başaran

Keyword(s):

Case Report ◽

Parotid Gland ◽

Malignant Transformation ◽

Review Of Literature ◽

Sebaceous Lymphadenoma

Download Full-text

Primary amenorrhea with Swyer syndrome: a rare case report

BIRDEM Medical Journal ◽

10.3329/birdem.v10i2.47745 ◽

2020 ◽

Vol 10 (2) ◽

pp. 130-132

Author(s):

Aleya Ferdush Monni ◽

Md Shafikul Islam ◽

Md Faruque Pathan ◽

Feroz Amin ◽

Faria Afsana

Keyword(s):

Case Report ◽

External Genitalia ◽

Chromosome Analysis ◽

Interesting Case ◽

Breast Development ◽

Primary Amenorrhea ◽

Rare Case Report ◽

Axillary Hair ◽

Laparoscopic Removal ◽

Swyer Syndrome

Swyer syndrome with complete gonadal dysgenesis is associated with an absence of testicular differentiation in a phenotypic female with a 46, XY karyotype. The diagnosis is usually made at adolescence when primary amenorrhea is investigated. Here is an interesting case report of 18-year-old unmarried girl, who presented with primary amenorrhea and non-development of breasts. Her body built was musculin with broad shoulders, prominent Adam’s apple and deep voice. Examination of her secondary sexual charaistisctcs revealed no breast development, absent axillary hair and sparse pubic hairs with female type of external genitalia. Laboratoryanalyses revealed serum follicle-stimulating hormone and luteinizing hormone levels compatible with hypergonodotropichypogonadism. Pelvicultrasonography showed an infantile uterus and streak gonads. Chromosome analysis revealed 46, XYkaryotype. Laparoscopic removal of streak gonads was done as there is a risk of gonadoblastoma in such cases. The patient was started on hormonal replacement therapy. Swyersyndrome results mainly due to mutation in certain genes such as SRY gene, which leads to failure of development of testis. Birdem Med J 2020; 10(2): 130-132

Download Full-text

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.

Download Full-text