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Background 46XY pure gonadal dysgenesis (Swyer syndrome) is a rare disorder of sexual development. Patients have a 46XY karyotype, though phenotypically they appear female with normal external genitalia and vagina. Although patients exhibit normal Mullerian structures (uterus, fallopian tubes, and vagina), they possess a pair of bilateral undifferentiated gonad streaks. Delayed puberty and primary amenorrhea are the common presentations. There is an increased risk of developing tumors in the gonads and therefore a bilateral gonadectomy is recommended. Case A 16-year-old girl who presented with primary amenorrhea was diagnosed with Swyer syndrome. She underwent prophylactic bilateral gonadectomy and salpingectomies. She was discovered to have no gonadal malignancy, conversely dysgerminoma solely within the fallopian tube. Summary and Conclusion Both bilateral salpingectomies and bilateral gonadectomies should be recommended as the operation of choice in patients with Swyer Syndrome.

Research question Does a genetic condition underlie the diagnosis of primary ovarian insufficiency (POI) in a 21-year-old woman with primary amenorrhoea? Design A karyotype and genetic testing for Fragile X syndrome was undertaken. A next-generation sequencing panel of 24 genes associated with syndromal and non-syndromal POI was conducted. Results A nonsense variant c.1336G>T, p.(Glu446Ter) and whole gene deletion in STAG3 were identified. Conclusions Biallelic loss of function variants in STAG3 are associated with primary ovarian failure type 8 and are a rare cause of POI.

Background Ciliated cyst of the vulva is a variety of ciliated cutaneous cyst, which itself is a rare presentation and a very few cases has been reported. Case This case report shows the presentation of this cyst in a 12-year-old girl with early onset of puberty. The histopathology supports estrogen receptor and progesterone receptor positivity of the cyst lining, which supports the theory of Mullerian heterotopy during embryogenesis. This is the most popular theory on the development of this cyst. Its an uncommon presentation in children but a curable benign cyst.

Menstrual dysfunction is common, with approximately 9–30% of reproductive-aged women presenting with menstrual irregularities requiring medical evaluation. The causes are diverse and multiple treatment options are available. Appropriate management relies on relevant investigation and accurate diagnosis. This article reviews the most common causes of menstrual dysfunction using case histories for illustration. The conditions covered in this review include menstrual dysfunction around the time of menarche, ovulatory and anovulatory dysfunctional uterine bleeding, polycystic ovarian syndrome, uterine fibroids and dysfunctional bleeding around the perimenopause. Appropriate investigations and current management strategies are also discussed.

Obesity in childhood and adolescence is a modern global epidemic with adverse health impacts, including cardiovascular, respiratory, orthopedic, endocrinological, metabolic, and psychological effects. Polycystic ovarian syndrome (PCOS) is associated with obesity and may be present in adolescence, although the diagnosis may not be straightforward in this age group, as recognized criteria may not be applicable. The cornerstones of management of obesity and PCOS in adolescence are prevention and lifestyle interventions, although medical and surgical managements have a role to play. In particular, the evidence for management of PCOS in adolescence continues to emerge; however, large trials in this age group are awaited.

We report herein the first case of psychosis after short-term use of the combined oral contraceptive (COC) pill in a young patient with no previous psychiatric history. An 11-year-old girl was placed on the COC pill for treatment of menorrhagia, 5 months after her menarche. She developed an initial encephalopathy, which progressed to psychosis. The estrogenic component of the COC pill is the most likely cause of this psychosis. COC pills should be used with caution in patients with an already high estrogenic state as occurs near menarche.