- A Case of Primary Amenorrhea with Swyer Syndrome. [Journal Article]
- JHJ Hum Reprod Sci 2017 Oct-Dec; 10(4):310-312
- Swyer syndrome with complete gonadal dysgenesis is associated with an absence of testicular differentiation in a phenotypic female with a 46, XY karyotype. A 14-year-old unmarried girl was referred w...
Swyer syndrome with complete gonadal dysgenesis is associated with an absence of testicular differentiation in a phenotypic female with a 46, XY karyotype. A 14-year-old unmarried girl was referred with complaints of primary amenorrhea and nondevelopment of breast. Her built was normal. Examination of her secondary sexual characteristics revealed no breast development, absent axillary hairs, and sparse pubic hairs. External genitalia was of female type. Karyotype showed genotype of 46, XY. Magnetic resonance imaging revealed hypoplastic uterus with absent fallopian tubes and ovaries. A diagnosis of Swyer syndrome was made. Laparoscopy showed infantile uterus, normal fallopian tubes, and streak gonads. 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. Swyer syndrome results mainly due to mutation in certain genes such as SRY gene, which leads to failure of development of testis.
- Delayed Presentation of Turner Syndrome: Challenge to Optimal Management. [Journal Article]
- JHJ Hum Reprod Sci 2017 Oct-Dec; 10(4):297-301
- CONCLUSIONS: Primary amenorrhea is the most common presenting feature in girls with TS leading to a delayed age of presentation. Short stature and dysmorphic features are often overlooked in infancy and childhood due to socioeconomic factors. This late age of presentation is a cause of concern as early detection and management is important for height outcomes, bone health, and psychosocial support. Assessment of comorbidities becomes important in this setting.
- Mayer-Rokitansky-Kuster-Hauser Syndrome: A Unique Case Presentation. [Journal Article]
- MMMil Med 2018 Feb 05
- CONCLUSIONS: To our knowledge, this is the first case of MRKH presenting with a bicuspid aortic valve and radial dysplasia. A review of the literature reveals no other cases of MRKH with these unique anomalies.
- [Ovarian Sertoli-Leydig tumor: A tricky tumor]. [Journal Article]
- APAnn Pathol 2018 Feb 01
- We report the case of a 15 years old teenage girl presenting with a primary amenorrhea and hypervirilisation symptoms. The clinical assessement found a 16cm wide heterogenous ovarian mass testosteron...
We report the case of a 15 years old teenage girl presenting with a primary amenorrhea and hypervirilisation symptoms. The clinical assessement found a 16cm wide heterogenous ovarian mass testosteronemia and alpha-foeto protein levels were increased. On gross exam the tumor was solid and cystic, multilocular containing serous and mucinous liquids. Microscopically, there was a sertoli cells rich solid area in which the cells had a trabecular and nested organization with Leydig cells between them and there was also a cystic area made of glandular structures lined with an intestinal muco-secreting epithelium. Next to these area, there were Sertoli cells and an oedematous stroma. The immunostaining showed that the Sertoli cells expressed, among others, the inhibine and the glands expressed the cytokeratins 7 and 20. A Sertoli and Leydig cells tumor of intermediate differentiation with heterologous elements diagnostic was made. This is a rare tumor, representing less than 0.5% of ovary tumors. Well differentiated tumors are not frequent. In one third of the cases, there are hypervirilisation symptoms, the imaging exams will serve to narrow the diagnosis and to do a full work-up to establish an extension. There are several histologic sub types caracterised by the existence of retiforms structures or heterologous elements. There are no specific immunostainings, this will only help to narrow the diagnosis and rule out some hypothesis. There are no guidelines for the management of the patients, indeed each center has its own practices. Those tumors have quite a good prognosis thanks to their early diagnosis at a stade where they are still confined to the ovary.
- Endocrine Abnormalities in Adolescents with Menstrual Disorders. [Journal Article]
- JOJ Obstet Gynaecol India 2018; 68(1):58-64
- CONCLUSIONS: Although immaturity of hypothalamic pituitary ovarian axis is considered to be the most common cause of menstrual irregularities in adolescent girls, endocrine abnormalities, namely thyroid dysfunction and hyperandrogenism, may be responsible in some cases, thus warranting further evaluation.
- Intracranial germinoma causing cerebral haemiatrophy and hypopituitarism. [Journal Article]
- PNPract Neurol 2018 Jan 29
- A young woman presented with primary amenorrhoea, progressive haemiparesis, visual disturbance, dementia and focal motor seizures. Investigations showed hypopituitarism, unilateral cerebral atrophy a...
A young woman presented with primary amenorrhoea, progressive haemiparesis, visual disturbance, dementia and focal motor seizures. Investigations showed hypopituitarism, unilateral cerebral atrophy and inflamed cerebrospinal fluid. A trans-sphenoidal biopsy gave a unifying diagnosis of a pituitary germinoma.
- Functional study of a novel missense single-nucleotide variant of NUP107 in two daughters of Mexican origin with premature ovarian insufficiency. [Journal Article]
- MGMol Genet Genomic Med 2018 Jan 24
- CONCLUSIONS: Our findings indicate that NUP107 R355C variant falls in the category of variant of unknown significance as the cause of HH and infertility.
- Genetic defect of a combined 17 α-hydroxylase/17,20-lyase deficiency patient with adrenal crisis. [Journal Article]
- GEGynecol Endocrinol 2018 Jan 18; :1-5
- Combined 17 α-hydroxylase/17,20-lyase deficiency (17OHD) is a rare autosomal recessive disease that is a type of congenital adrenal hyperplasia, which results in hypertension, hypokalemia, sexual inf...
Combined 17 α-hydroxylase/17,20-lyase deficiency (17OHD) is a rare autosomal recessive disease that is a type of congenital adrenal hyperplasia, which results in hypertension, hypokalemia, sexual infantilism, primary amenorrhea in females (46,XX), or pseudohermaphroditism in males (46,XY). It is mainly caused by mutation in the CYP17A1 gene, which encodes a key enzyme in the steroidogenic pathway. However, these patients rarely experience adrenal crisis, due to abnormally high corticosterone levels. Here, we report a 17OHD patient who experienced clinical adrenal crisis on day 1 after gonadectomy. Her (46,XY) genetic defect was c0.715 C > T p.Arg239-stop in exon 4 of CYP17A1, which was confirmed by targeted sequence capture/high-throughput sequencing and Sanger sequencing technology. To the best of our knowledge, 17OHD with adrenal crisis has not been reported previously, and the reason why it arose in this patient might have been inappropriate glucocorticoid administration during the perioperative period.
- Sequential versus simultaneous use of chemotherapy and gonadotropin-releasing hormone agonist (GnRHa) among estrogen receptor (ER)-positive premenopausal breast cancer patients: effects on ovarian function, disease-free survival, and overall survival. [Journal Article]
- BCBreast Cancer Res Treat 2018 Jan 13
- CONCLUSIONS: For ER-positive premenopausal patients, the sequential use of GnRHa and chemotherapy showed ovarian preservation and survival outcomes that were no worse than simultaneous use. The application of GnRHa can probably be delayed until menstruation resumption after chemotherapy.
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- A novel de novo autosomal translocation 46, XX, t (5; 8) in a female with primary amenorrhea. [Letter]
- EJEur J Obstet Gynecol Reprod Biol 2018; 221:201-203