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49 Possible Causes for Primary Amenorrhea, Underdeveloped Breasts

  • Ovarian Dysgenesis

    breasts, and female external genitalia.[genedx.com] We present a case of a 33-year-old woman with Turner syndrome, primary amenorrhea and menopausal hormonal profile in which peritoneal endometriosis (white opacification type[ncbi.nlm.nih.gov] XX female gonadal dysgenesis (XX-GD) is a rare, genetically heterogeneous disorder characterized by lack of spontaneous pubertal development, primary amenorrhea, uterine hypoplasia[ncbi.nlm.nih.gov]

  • Turner Syndrome

    A high thyroid stimulating hormone (TSH) result suggests the primary amenorrhea is due to primary hypothyroidism and should be followed with fT4 analysis.[clinicaladvisor.com] This can lead to Underdeveloped breast tissue Incomplete sexual development Absence of menstrual periods Sudden halt to sexual development and menstrual periods Infertility[news-medical.net] During a physical examination, the doctor looks for underdeveloped breasts and genitalia, webbed neck, short stature, low hairline in back, simian crease (a single crease[healthofchildren.com]

  • Vaginal Atresia

    The primary presenting signs and symptoms included primary amenorrhea (71.8%), periodic abdominalgia (41.0%), abdominal pain (36.0%), dyspareunia (10.3%), menstrual disorders[ncbi.nlm.nih.gov] Individuals with Müllerian aplasia and hyperandrogenism typically have an underdeveloped or absent uterus and may also have abnormalities of other reproductive organs.[ghr.nlm.nih.gov] PATIENT(S): A 16-year-old girl with cyclic hematuria, periodic pelvic pain, and primary amenorrhea.[ncbi.nlm.nih.gov]

  • Androgen Insensitivity Syndrome

    After birth, differential diagnosis should be performed using other forms of abnormal sexual differentiation of primary amenorrhea.[ncbi.nlm.nih.gov] Their breasts contain normal ductal and glandular tissue, but their areolae are often pale and underdeveloped.[doi.org] Abstract We report a case of a 14-year-old girl with primary amenorrhea and phenotypic as well as hormonal features of complete androgen insensitivity syndrome (CAIS), who[ncbi.nlm.nih.gov]

  • Panhypopituitarism

    Girls with this condition may experience amenorrhea, either primary or secondary. Growth failure is the most commonly seen feature of hypopituitarism.[symptoma.com] […] pituitary gland 0010627 Aplasia/Hypoplasia of the breasts Absent/small breasts Absent/underdeveloped breasts [ more ] 0010311 Decreased circulating ACTH level 0002920 Decreased[rarediseases.info.nih.gov] […] symptoms Abnormal prolactin level 0040086 Abnormality of secondary sexual hair 0009888 Amenorrhea Abnormal absence of menstruation 0000141 Anterior pituitary hypoplasia Underdeveloped[rarediseases.info.nih.gov]

  • Kallmann Syndrome

    These females, aged at 20 and 29-year-old, presented primary amenorrhea with prepubertal estradiol and low gonadotropin levels.[ncbi.nlm.nih.gov] Her breast development was poor (Tanner stage II) with no evidence of galactorrhoea.[omicsonline.org] amenorrhea) simultaneous movement of both hands (called bimanual synkinesis) affects about one-fifth of males with the disorder There are other symptoms that occur less often[rarediseases.about.com]

  • Hypogonadotropic Hypogonadism

    She is a 20-year-old tall, eunuchoid female referred for evaluation of primary amenorrhea. Spontaneous thelarche occurred at the age of 15 years.[ncbi.nlm.nih.gov] Hypogonadism is a medical term referring to an underdevelopment of the reproductive organs.[symptoma.com] The patient was a 19-year-old female who presented the nIHH phenotype with primary amenorrhea, cleft lip and palate, mixed hearing disorders, and skeletal malformations.[ncbi.nlm.nih.gov]

  • Gonadal Dysgenesis

    OBJECTIVE: To determine the genetic cause of primary amenorrhea in a 46,XY adolescent girl. DESIGN: Case report.[ncbi.nlm.nih.gov] breasts, and female external genitalia.[genedx.com] Patients with pure gonadal dysgenesis/agenesis are often short in stature with primary or secondary amenorrhea.[clinicaladvisor.com]

  • Female Gonadal Dysgenesis

    Numerous sex-chromosome anomalies have been detected in cases of primary amenorrhea with normal external genitalia.[nejm.org] breasts, and female external genitalia.[genedx.com] Patients with pure gonadal dysgenesis/agenesis are often short in stature with primary or secondary amenorrhea.[clinicaladvisor.com]

  • Ovarian Dysgerminoma

    […] gonads, amenorrhea, and rudimentary development of breasts, pubic hair, and axillary hair.[emedicine.medscape.com] This gene is located on the Y chromosome (p11.31); mutations at this site result in phenotypic females with müllerian external genitalia, underdeveloped (streak) internal[emedicine.medscape.com]

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