The most likely diagnosis for this patient is androgen insensitivity syndrome (AIS). This is because she has not started menstruating by the age of 15, has little to no axillary or pubic hair, and elevated testosterone levels. These symptoms are all indicative of AIS, which is a genetic condition where individuals with male chromosomes (46XY) have a female appearance due to their body’s resistance to testosterone. The lower pelvic masses seen on examination are likely to be undescended testes.

Congenital adrenal hyperplasia (CAH) is an unlikely diagnosis as it typically causes excess male-pattern hair growth, including axillary and pubic hair, which is not seen in this patient. Additionally, CAH would not explain the presence of the lower pelvic masses.

Functional hypothalamic amenorrhoea is also unlikely as this condition is typically associated with low body weight, which is not the case for this patient. Furthermore, her FSH and LH levels are within the normal range, indicating that there is no hypothalamic dysfunction.

Polycystic ovarian syndrome (PCOS) is an unlikely diagnosis as it typically causes irregular periods rather than a complete absence of menstruation. Additionally, patients with PCOS often have excessive hair growth, which is not seen in this patient. PCOS would also not explain the presence of the lower pelvic masses.

Understanding Androgen Insensitivity Syndrome

Androgen insensitivity syndrome is a genetic condition that affects individuals with an XY genotype, causing them to develop a female phenotype due to their body’s resistance to testosterone. This condition was previously known as testicular feminization syndrome. The main features of this condition include primary amenorrhea, little or no pubic and axillary hair, undescended testes leading to groin swellings, and breast development due to the conversion of testosterone to estrogen.

Diagnosis of androgen insensitivity syndrome can be made through a buccal smear or chromosomal analysis, which reveals a 46XY genotype. After puberty, testosterone levels in affected individuals are typically in the high-normal to slightly elevated range for postpubertal boys.

Management of androgen insensitivity syndrome involves counseling and raising the child as female. Bilateral orchidectomy is recommended to reduce the risk of testicular cancer due to undescended testes. Additionally, estrogen therapy may be used to promote the development of secondary sexual characteristics.

In summary, androgen insensitivity syndrome is a genetic condition that affects the development of individuals with an XY genotype, causing them to develop a female phenotype. Early diagnosis and management can help affected individuals lead healthy and fulfilling lives.

Fat necrosis is a condition where local fat undergoes saponification, resulting in a benign inflammatory process. It is becoming more common due to breast-conserving surgery and mammoplasty procedures. Trauma or nodular panniculitis are common causes, with trauma being the most frequent. It is more prevalent in women with large breasts and tends to occur in the subareolar and periareolar regions. The breast mass is usually firm, round, and painless, but there may be a single or multiple masses. It may be tender or painful in some cases, and the skin around the lump may be red, bruised, or dimpled. A biopsy may be necessary to differentiate it from breast cancer.

Screening for Down’s syndrome, which involves the nuchal scan, is conducted during antenatal care at 11-13+6 weeks. The combined test, which also includes the nuchal scan, is performed during this time frame. However, if the patient prefers to undergo the screening at a later stage of pregnancy, they can opt for the triple or quadruple test between 15 and 20 weeks.

NICE guidelines recommend 10 antenatal visits for first pregnancies and 7 for subsequent pregnancies if uncomplicated. The purpose of each visit is outlined, including booking visits, scans, screening for Down’s syndrome, routine care for blood pressure and urine, and discussions about labour and birth plans. Rhesus negative women are offered anti-D prophylaxis at 28 and 34 weeks. The guidelines also recommend discussing options for prolonged pregnancy at 41 weeks.

The use of combined oral contraceptive pill is associated with a reduced risk of endometrial cancer.

Endometrial cancer is a type of cancer that is commonly found in women who have gone through menopause, but it can also occur in around 25% of cases before menopause. The prognosis for this type of cancer is usually good due to early detection. There are several risk factors associated with endometrial cancer, including obesity, nulliparity, early menarche, late menopause, unopposed estrogen, diabetes mellitus, tamoxifen, polycystic ovarian syndrome, and hereditary non-polyposis colorectal carcinoma. Postmenopausal bleeding is the most common symptom of endometrial cancer, which is usually slight and intermittent initially before becoming more heavy. Pain is not common and typically signifies extensive disease, while vaginal discharge is unusual.

When investigating endometrial cancer, women who are 55 years or older and present with postmenopausal bleeding should be referred using the suspected cancer pathway. The first-line investigation is trans-vaginal ultrasound, which has a high negative predictive value for a normal endometrial thickness (< 4 mm). Hysteroscopy with endometrial biopsy is also commonly used for investigation. The management of localized disease involves total abdominal hysterectomy with bilateral salpingo-oophorectomy, while patients with high-risk disease may have postoperative radiotherapy. Progestogen therapy is sometimes used in frail elderly women who are not considered suitable for surgery. It is important to note that the combined oral contraceptive pill and smoking are protective against endometrial cancer.

Starting September 2019, boys in school Year 8 who are 12-13 years old will also be provided with the HPV vaccine, which is currently administered in two doses. Girls receive the second dose within 6-24 months after the first, depending on local guidelines.

The human papillomavirus (HPV) is a known carcinogen that infects the skin and mucous membranes. There are numerous strains of HPV, with the most significant being 6 & 11, which cause genital warts, and 16 & 18, which are linked to various cancers, particularly cervical cancer. HPV infection is responsible for over 99.7% of cervical cancers, and testing for HPV is now a crucial part of cervical cancer screening. Other cancers linked to HPV include anal, vulval, vaginal, mouth, and throat cancers. While there are other risk factors for cervical cancer, such as smoking and contraceptive pill use, HPV is a significant contributor.

In 2008, the UK introduced a vaccination for HPV, initially using Cervarix, which protected against HPV 16 & 18 but not 6 & 11. This decision was criticized due to the significant disease burden caused by genital warts. In 2012, Gardasil replaced Cervarix as the vaccine used, protecting against HPV 6, 11, 16 & 18. Initially given only to girls, boys were also offered the vaccine from September 2019. All 12- and 13-year-olds in school Year 8 are offered the HPV vaccine, which is typically given in school. Parents are informed that their daughter may receive the vaccine against their wishes. The vaccine is given in two doses, with the second dose administered between 6-24 months after the first, depending on local policy. Men who have sex with men under the age of 45 should also be offered the HPV vaccine to protect against anal, throat, and penile cancers. Injection site reactions are common with HPV vaccines.

The most frequent type of ovarian cyst is the follicular cyst, which is often a physiological cyst in young women. A simple cyst in a young woman is likely to be a follicular cyst. The endometrioma is typically filled with old blood, earning it the nickname chocolate cyst. The dermoid cyst contains dermoid tissue, while the corpus luteum cyst is also a physiological cyst but is less common than follicular cysts.

Understanding the Different Types of Ovarian Cysts

Ovarian cysts are a common occurrence in women, and they can be classified into different types. The most common type of ovarian cyst is the physiological cyst, which includes follicular cysts and corpus luteum cysts. Follicular cysts occur when the dominant follicle fails to rupture or when a non-dominant follicle fails to undergo atresia. These cysts usually regress after a few menstrual cycles. Corpus luteum cysts, on the other hand, occur when the corpus luteum fails to break down and disappear after the menstrual cycle. These cysts may fill with blood or fluid and are more likely to cause intraperitoneal bleeding than follicular cysts.

Another type of ovarian cyst is the benign germ cell tumour, which includes dermoid cysts. Dermoid cysts are also known as mature cystic teratomas and are usually lined with epithelial tissue. They may contain skin appendages, hair, and teeth. Dermoid cysts are the most common benign ovarian tumour in women under the age of 30, and they are usually asymptomatic. However, torsion is more likely to occur with dermoid cysts than with other ovarian tumours.

Lastly, there are benign epithelial tumours, which arise from the ovarian surface epithelium. The most common benign epithelial tumour is the serous cystadenoma, which bears a resemblance to the most common type of ovarian cancer (serous carcinoma). Serous cystadenomas are bilateral in around 20% of cases. The second most common benign epithelial tumour is the mucinous cystadenoma, which is typically large and may become massive. If it ruptures, it may cause pseudomyxoma peritonei.

In conclusion, understanding the different types of ovarian cysts is important for proper diagnosis and treatment. Complex ovarian cysts should be biopsied to exclude malignancy, while benign cysts may require monitoring or surgical removal depending on their size and symptoms.

When simple analgesia fails to alleviate endometriosis-related pain, the next step in treatment is to try either progestogens or the combined oral contraceptive pill. These hormonal treatments are generally effective in managing the symptoms of endometriosis. While clomifene may be used to induce ovulation in certain conditions, it is not the recommended next step in pain management for endometriosis. Elagolix, a new gonadotropin-releasing hormone antagonist, is licensed in the USA for endometriosis-related pain but is not widely used in the UK. Laparoscopic excision is a more invasive option and is typically reserved for later stages of treatment. Therefore, hormonal options are the next most appropriate step after simple analgesia for managing endometriosis-related pain.

Understanding Endometriosis

Endometriosis is a common condition where endometrial tissue grows outside of the uterus. It affects around 10% of women of reproductive age and can cause chronic pelvic pain, painful periods, painful intercourse, and subfertility. Other symptoms may include urinary problems and painful bowel movements. Diagnosis is typically made through laparoscopy, and treatment options depend on the severity of symptoms.

First-line treatments for symptomatic relief include NSAIDs and/or paracetamol. If these do not help, hormonal treatments such as the combined oral contraceptive pill or progestogens may be tried. If symptoms persist or fertility is a priority, referral to secondary care may be necessary. Secondary treatments may include GnRH analogues or surgery. For women trying to conceive, laparoscopic excision or ablation of endometriosis plus adhesiolysis is recommended, as well as ovarian cystectomy for endometriomas.

It is important to note that there is poor correlation between laparoscopic findings and severity of symptoms, and that there is little role for investigation in primary care. If symptoms are significant, referral for a definitive diagnosis is recommended.

The patient’s symptoms of menorrhagia, subfertility, and an abdominal mass strongly suggest the presence of fibroids. While ectopic pregnancy should be ruled out, it is less likely due to the absence of severe pain. Endometriosis and endometrial cancer are also unlikely causes of an abdominal mass. Although ovarian cancer cannot be completely ruled out, it is not the most probable diagnosis. Fibroids are benign tumors that commonly occur in the myometrium. Symptoms include heavy menstrual bleeding, pain (if the fibroid twists), and subfertility. As fibroids grow larger, they can cause additional symptoms such as dysuria, hydronephrosis, constipation, and sciatica. Initial treatment typically involves medications such as tranexamic acid, NSAIDs, or progesterones to manage menorrhagia, but surgery is often necessary for persistent fibroids.

Understanding Uterine Fibroids

Uterine fibroids are non-cancerous growths that develop in the uterus. They are more common in black women and are thought to occur in around 20% of white women in their later reproductive years. Fibroids are usually asymptomatic, but they can cause menorrhagia, which can lead to iron-deficiency anaemia. Other symptoms include lower abdominal pain, bloating, and urinary symptoms. Fibroids may also cause subfertility.

Diagnosis is usually made through transvaginal ultrasound. Asymptomatic fibroids do not require treatment, but periodic monitoring is recommended. Menorrhagia secondary to fibroids can be managed with various treatments, including the levonorgestrel intrauterine system, NSAIDs, tranexamic acid, and hormonal therapies.

Medical treatment to shrink or remove fibroids may include GnRH agonists or ulipristal acetate, although the latter is not currently recommended due to concerns about liver toxicity. Surgical options include myomectomy, hysteroscopic endometrial ablation, hysterectomy, and uterine artery embolization.

Fibroids generally regress after menopause, but complications such as subfertility and iron-deficiency anaemia can occur. Red degeneration, which is haemorrhage into the tumour, is a common complication during pregnancy.

Breast Mass Differential Diagnosis

Breast abscesses typically present with localised breast inflammation, pain, and fever. Treatment involves antibiotics and/or incision and drainage. Early breast cancer may be asymptomatic, but may present with changes in breast size or shape, skin dimpling, nipple abnormalities, and axillary lump. Fat necrosis is a benign inflammatory process that can result from trauma or surgery, and presents as a firm, painless mass. Fibroadenoma is the most common cause of breast mass in women aged <35 years, presenting as a singular, firm, rubbery, smooth, mobile, painless mass. Diffuse cystic mastopathy is characterised by cysts of varying sizes due to hormonal changes, but typically presents with multiple lumps and is not associated with inflammation. Clinical examination and biopsy may be needed to differentiate between these conditions.

According to FSRH guidelines, it is acceptable to begin hormonal contraception immediately after taking levonorgestrel (Levonelle) for emergency contraception. It is important to wait 5 days after taking ulipristal acetate (Ella-OneTM) before starting ongoing hormonal contraception. Waiting until the start of the next menstrual period is not necessary for quick-starting hormonal contraception, which can be done if the patient prefers it or if there is ongoing risk of pregnancy. While a negative pregnancy test at 21 days post-UPSI can reasonably exclude pregnancy, it is still recommended to take a pregnancy test 21 days after the episode of UPSI in case emergency contraception has failed.

Emergency contraception is available in the UK through two methods: emergency hormonal contraception and intrauterine device (IUD). Emergency hormonal contraception includes two types of pills: levonorgestrel and ulipristal. Levonorgestrel works by stopping ovulation and inhibiting implantation, while ulipristal primarily inhibits ovulation. Levonorgestrel should be taken as soon as possible after unprotected sexual intercourse, within 72 hours, and is 84% effective when used within this time frame. The dose should be doubled for those with a BMI over 26 or weight over 70kg. Ulipristal should be taken within 120 hours of intercourse and may reduce the effectiveness of hormonal contraception. The most effective method of emergency contraception is the copper IUD, which can be inserted within 5 days of unprotected intercourse or up to 5 days after the likely ovulation date. It may inhibit fertilization or implantation and is 99% effective regardless of where it is used in the cycle. Prophylactic antibiotics may be given if the patient is at high risk of sexually transmitted infection.