45 years' experience with early childhood anatomical technique of feminising genitoplasty for 46 XX Congenital Adrenal Hyperplasia -observations of vaginal introital anatomy and its relationship to the perineal body.

In Manchester, feminising genitoplasty is offered to children with 46XX Congenital Adrenal Hyperplasia (CAH) when there is a single perineal opening and/or enlarged clitoris. Our aims are to describe the anatomical reconstructive technique and present long-term outcomes. Our hypothesis is that 'the common channel (CC) length and distance to the vagina from perineal skin is mostly due to virilisation and hypertrophy of perineal tissue over the almost normally positioned vaginal introitus (V-I) in relation to the perineal body (PB)'. METHOD AND RESULTS: This is a retrospective notes review of all consecutive 46XX CAH operations from 1976 to December 2021. 99 patients, who had feminising genitoplasty and being followed-up, were included. 15 patients who were lost to follow up were excluded. Median age at surgery was 15 months. In 91, midline division of the labia majora, spongiosum, bulbo-spongiosus muscle (BSM) and CC down to PB was performed. This was sufficient to expose the V-I at the same level or within 5 mm depth of PB in 88. In 78 V-I was adequate taking 10/12fr dilator (Type 1). In 10, CC resembled a male urethra and V-I was narrow (Type 2), requiring widening by 5-10 mm incision at 6 o'clock position. Dartos of labia majora was attached to BSM to reduce the distance to V-I from perineal skin and the gap was lined with inner foreskin to create a vestibule. Out of 70 who were post-pubertal, 75% (53/70) had adequate calibre vaginal openings. 5 had introitoplasty and 2 had dilatation under anaesthesia. 10 needed self dilators only. 29 patients, of one of the three surgeons, had measurements of clitoris, CC, urethra and vagina. A hymen was found in 86% (25/29). There was significant strong, inverse correlation between the CC length and the urethral length (r = -0.708, p < 0.001, n = 27) but not between CC and vaginal lengths. After adjusting for age, the urethral length of Type 2 patients was 3.825 mm shorter than those of Type 1 (p = 0.017). CONCLUSION: Our data show that 'high' confluence is mostly due to virilisation of genitalia; and the anatomical technique of reversing the fusion of the urethral folds, spongiosum and bulbo-spongiosus muscle could be performed with all degrees of virilisation with success in early childhood with no need of local flaps or mobilisation of the urethro-vaginal complex. About 10% require surgery to treat narrowing of vaginal opening post puberty.

Homozygous missense variants in BMPR15 can result in primary ovarian insufficiency.

RESEARCH QUESTION: Does a genetic condition underlie the diagnosis of primary ovarian insufficiency (POI) in a 13-year-old girl with primary amenorrhoea? DESIGN: A case report of a next-generation sequencing panel of 24 genes associated with syndromal and non-syndromal POI was conducted. RESULTS: A homozygous missense variant c.1076C>T, p.(Pro359Leu) in BMP15 was identified. CONCLUSIONS: The biallelic variant c.1076C >T, p.(Pro359Leu) in BMP15 is associated with primary ovarian failure.

Biallelic loss of function variants in STAG3 result in primary ovarian insufficiency.

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.

Swyer Syndrome: A Case of Dysgerminoma Solely within the Fallopian Tube.

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 Müllerian 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.

Ciliated Cyst of the Vulva-A Case Report.

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 Müllerian 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.

Encephalopathy and psychosis following administration of the combined oral contraceptive pill in an 11-year-old female.

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.