Primary Amenorrhea Overview

Primary amenorrhea is the absence of menstrual bleeding in a girl by age 14 without secondary sexual development or by age 16 with secondary sexual development.

Mullerian agenesis is the most likely diagnosis in this case.

Serum testosterone levels or a karyotype analysis should be performed next.

<p>Imperforate hymen and transverse vaginal septum are two such causes.</p> Signup and view all the answers

<p>It is classified into two categories: primary amenorrhea with normal secondary sexual characteristics and primary amenorrhea with abnormal secondary sexual characteristics.</p> Signup and view all the answers

<p>Physiological amenorrhea in pre-puberty is due to the lack of ovarian function or hormonal influence before the onset of puberty.</p> Signup and view all the answers

<p>Primary amenorrhea may indicate underlying reproductive system issues that could impact fertility, necessitating systematic investigations.</p> Signup and view all the answers

<p>The hypothalamus regulates the release of hormones that control the menstrual cycle through the pituitary gland.</p> Signup and view all the answers

<p>Normal stature and short stature.</p> Signup and view all the answers

<p>Congenital includes isolated gonadotropin-releasing hormone deficiency and olfactogenital syndrome, while acquired can result from weight loss, excessive exercise, or hyperprolactinaemia.</p> Signup and view all the answers

<p>Gonadal agenesis is a form of hypergonadotropic hypogonadism.</p> Signup and view all the answers

<p>Presence of breasts indicates adequate estrogen production, while absence indicates inadequate estrogen exposure.</p> Signup and view all the answers

<p>Symptoms include a bulging hymen and the presence of a mucocele.</p> Signup and view all the answers

<p>Haematometra is the accumulation of menstrual blood within the uterine cavity, often resulting from an obstruction like an imperforate hymen.</p> Signup and view all the answers

<p>It helps in evaluating reproductive potential and diagnosing conditions like Turner syndrome.</p> Signup and view all the answers

<p>Complications include separation of the upper and lower parts of the vagina potentially leading to obstructive symptoms.</p> Signup and view all the answers

<p>MRKH syndrome is characterized by the absence of the vagina and a non-functioning uterus, with a primary sign being a blind-ending vaginal dimple usually not more than 1.5 cm in depth.</p> Signup and view all the answers

<p>Approximately 40% of patients with MRKH syndrome have renal anomalies such as an absent kidney and may also have skeletal abnormalities.</p> Signup and view all the answers

<p>In androgen insensitivity, mutations in the androgen receptor gene result in a non-functional receptor, preventing the masculinizing effects of testosterone and leading to a phenotypically female appearance.</p> Signup and view all the answers

<p>Cyclical abdominal pain is a common presenting symptom in both MRKH syndrome and cases of failed cervical development.</p> Signup and view all the answers

<p>Patients with androgen insensitivity have normal external female genitalia but lack a uterus and upper vagina.</p> Signup and view all the answers

<p>Resistant ovary syndrome is characterized by elevated gonadotrophin levels despite the presence of apparently normal ovarian tissue.</p> Signup and view all the answers

<p>A key finding in MRKH syndrome is the presence of normal female external genitalia along with a blind-ending vaginal dimple.</p> Signup and view all the answers

<p>In this condition, while the uterine body may be normally developed, there is a failure of upper vaginal development, leading to no vaginal space for distension.</p> Signup and view all the answers

<p>Chemotherapy and radiotherapy.</p> Signup and view all the answers

<p>Due to the deficiency of galactose-1-phosphate uridyltransferase, toxic accumulation of substances results in ovarian cellular destruction.</p> Signup and view all the answers

<p>Hydrocephalus.</p> Signup and view all the answers

<p>Turner's syndrome.</p> Signup and view all the answers

<p>The age of thelarche.</p> Signup and view all the answers

<p>Because a decrease in body weight may indicate underlying issues such as hypopituitarism or Turner’s syndrome.</p> Signup and view all the answers

<p>Short stature and lack of secondary sexual characteristics.</p> Signup and view all the answers

<p>Cryptomenorrhoea is the presence of menstrual-like symptoms without an actual menstrual flow, identified by examining a patent introitus.</p> Signup and view all the answers

<p>A buccal smear and examination of polymorphonuclear leucocytes can determine if chromatin is positive (probably XX) or negative (probably XO or XY).</p> Signup and view all the answers

<p>A full chromosome analysis may be needed to exclude mosaicism and androgen insensitivity syndrome (AIS).</p> Signup and view all the answers

<p>Hormonal investigations should include LH, FSH, prolactin, oestradiol, and testosterone levels.</p> Signup and view all the answers

<p>Ultrasound helps determine the presence, state, and size of the ovaries and any follicular activity, as well as assessing uterine size.</p> Signup and view all the answers

<p>Patients with an absent uterus require special psychological counselling and management in a centre with comprehensive support.</p> Signup and view all the answers

<p>Careful counselling is necessary due to the malignant potential of their gonads, which may need to be removed.</p> Signup and view all the answers

<p>The most common diagnosis is constitutional delay.</p> Signup and view all the answers

<p>A cruciate incision in the hymen allows drainage of retained menstrual blood.</p> Signup and view all the answers