Primary amenorrhea is a symptom caused by different rare pathologic conditions. It is commonly seen during adolescence due to the absence of menses during this period. Presented here is a rare case of primary amenorrhea in an 18 year old girl with delayed pubertal growth and short stature which on series of investigations revealed hypergonadotropic hypogonadism, absence of the uterus and non-visualized bilateral ovaries on MRI. Karyotyping showed 45,X0. The coexistence of MRKH and gonadal dysgenesis was considered in this case and has been reported in only a few studies up to this date. Its association is uncommon, hence, a multidisciplinary approach is warranted for the management of her case. Further implications on menses and future fertility options are the main considerations, affecting the quality of life.

Turner Syndrome

Androgen Insensitivity Syndrome (AIS) is a disorder wherein a patient presents with a female phenotype but is actually genetically male with an XY karyotype. Typically, AIS is diagnosed at the beginning of second decade, when a phenotypically female patient complains of amenorrhea. It is extremely rare to make a first diagnosis of AIS after the fifth decade of life. This case report presents a 62-year old female who consulted because of primary amenorrhea and intraabdominal mass. Patient was diagnosed with Complete Androgen Insensitivity Syndrome based on physical exam findings, imaging studies, endocrine tests and karyotyping. She underwent exploratory laparotomy, adhesiolysis and bilateral orchiectomy. This report will discuss diagnosis and appropriate management of patients with Complete Androgen Insensitivity.
Androgen-Insensitivity Syndrome

Mullerian anomalies arise from the failure in the development of Mullerian ducts and their associated structures during organogenesis which confers adverse impact in fertility and reproductive health. Presented is a rare case of a 15 year old nulligravid, who presented with a chief complaint of severe cyclic hypogastric pain associated with primary amenorrhea. Complete clinical history, physical examination and sonographic findings pointed to a diagnosis of cervical hypoplasia associated with functioning uterine corpus and an absent vagina. Patient underwent total abdominal hysterectomy with left salpingectomy and bilateral oophorocystectomy, for hematometra, bilateral endometriotic cysts, and hematosalpinx. This case report discusses the management of cervicovaginal agenesis through a multidisciplinary approach by a team composed of an obstetrician-gynecologist, reproductive endocrinologist, pediatrician, and pediatric surgeon for proper evaluation, diagnosis, and management of this case.
Hematometra

A 20 year old nulligravid, presented with primary amenorrhea, short stature, multiple exostoses and delayed mental development. She complained of cyclic pelvic pain. Her karyotyping showed 46, X.t(X;8)(q24;q22). Pelvic ultrasound done on her showed a diagonal vaginal septum, hematosalpinx and hematotrachelocolpos. On exploratory laparotomy, she also had a unicornuate uterus with hematometra and a non-communicating, non-functioning right rudimentary horn. Hysterectomy was done on this patient.

In a review of available literature, this may not be the first case reported to describe occurrence of congenital reproductive tract anomalies in combination with gonadal dysgenesis. However, this is a case with a rare combination of congenital anomalies. Its possible pathogenesis, treatment and implications on the patient's reproductive future are discussed.

Human ; Female ; Adult (a Person 19-44 Years Of Age) ; Turner Syndrome ; Uterus

A 20 year old nulligravid, presented with primary amenorrhea, short stature, multiple exostoses and delayed mental development. She complained of cyclic pelvic pain. Her karyotyping showed 46,X,t(X;8)(q24;q22). Pelvic ultrasound done on her showed a diagonal vaginal septum, hematosalpinx and hematotrachelocolpos. On exploratory laparotomy, she also had a unicornuate uterus with hematometra and a non-communicating, non-functioning right rudimentary horn. Hysterectomy was done on this patient. In a review of available literature, this may not be the first case reported to describe occurrence of congenital reproductive tract anomalies in combination with gonadal dysgenesis. However, this is a case with a rare combination of congenital anomalies. Its possible pathogenesis, treatment and implications on the patient's reproductive future are discussed.

Human ; Female ; Young Adult: 19-24 Yrs Old ; Turner Syndrome