Kallmann syndrome (KS) is a rare genetic disorder characterized by hypogonadotropic hypogonadism and anosmia. This case report highlights a 30-year-old woman with KS who presented with secondary amenorrhea and uterine hypoplasia after repeated use of combined oral contraceptives (COCs). She had a 5-year history of primary infertility, hyposmia, and primary amenorrhea. Initially, it was unclear whether her amenorrhea was primary or secondary. However, after interviewing her mother, it was determined that she had primary amenorrhea. Physical examination showed a normal female appearance, with Tanner Stage T1 for pubic hair and T3 for breasts, possibly due to obesity. Hormonal tests revealed low levels of FSH, LH, and estrogen. An MRI of the head demonstrated olfactory bulb aplasia, supporting the clinical diagnosis of KS. Karyotyping confirmed a 46,XX chromosome pattern. The diagnosis of KS was established, and the patient was referred for fertility counseling and ovarian stimulation. KS is typically diagnosed during puberty due to primary amenorrhea, and distinguishing it from other genetic disorders requires karyotyping. This patient's condition was exacerbated by the repeated use of E-P pills, which delayed proper diagnosis. Fertility treatment options, including ovarian stimulation with gonadotropins and ovulation induction, were recommended to help the patient conceive. This report emphasizes the importance of careful consideration before administering repeated hormonal treatments and underscores the potential for fertility treatments in females with KS. It highlights the need for clinicians to be vigilant in diagnosing and managing KS, especially in patients with hypogonadotropic hypogonadism and anosmia.

Turner syndrome (TS) is a chromosomal disorder characterized by complete or partial loss of one X chromosome. One structural variant, isochromosome Xq [46,X,i(Xq)], results in duplication of the long arm and loss of the short arm of the X chromosome (Xp), which contains genes essential for normal ovarian development and function. This chromosomal imbalance leads to accelerated germ cell apoptosis and subsequent ovarian dysfunction. In this case, a 33-year-old woman with chronic anovulation and uterine hypoplasia was diagnosed with 46,X,i(Xq) karyotype without evidence of mosaicism. A 33-year-old woman with a history of irregular menstruation since adolescence was referred for evaluation of uterine hypoplasia and chronic anovulation. Clinical findings included short stature, but no webbed neck or congenital heart defects, making this an atypical presentation of Turner syndrome. Transvaginal ultrasound revealed a small uterus and bilateral streak ovaries. Hormonal evaluation showed elevated FSH levels consistent with hypergonadotropic hypogonadism. Diagnostic laparoscopy confirmed bilateral streak ovaries with normal appearing uterus and fallopian tubes. Chromosomal analysis using G-banding revealed a 46,X,i(Xq) karyotype, indicating an isochromosome Xq abnormality, a recognized variant of Turner syndrome. This genetic alteration explains her ovarian dysfunction and infertility, highlighting the importance of chromosomal evaluation in cases of primary ovarian insufficiency. This case highlights a structurally abnormal but nonmosaic 46,X,i(Xq) karyotype variant of Turner syndrome presenting primarily with ovarian insufficiency. Despite the absence of classic phenotypic features such as webbed neck or congenital heart defects, a high index of suspicion led to the correct diagnosis. This case underscores the need to consider Turner syndrome variants in women with unexplained ovarian insufficiency, even in the absence of overt clinical stigmata, to guide appropriate genetic counseling and fertility planning.

The uterus, a complex organ, performs crucial functions including fertilisation, embryonic implantation, and supporting fetal development. Infantile uterus, resembling a prepubescent girl's uterus, and uterine hypoplasia, characterised by a smaller than normal size but with a normal body/cervix ratio, present significant reproductive challenges. This study aims to critically review the existing literature on the infantile uterus and uterine hypoplasia, focusing on the aetiology, clinical features, diagnosis and treatment options. A comprehensive narrative review was conducted based on a thorough database search in PubMed, Google Scholar, Scopus, and Web of Science, complemented by cross-referencing relevant articles. Inclusion criteria included studies on the aetiology, clinical features, diagnosis, and treatment of infantile uterus and uterine hypoplasia. Diagnostic criteria based on measurements and therapeutic options. The review revealed distinct characteristics of infantile uterus and uterine hypoplasia. The infantile uterus has a body/cervix ratio of 1:1 or 1:2, resembling that of a prepubescent girl, while uterine hypoplasia maintains a normal body/cervix ratio of 2:1 but is smaller in size. Diagnostic criteria include a total uterine length of less than 6 cm and specific ultrasound features such as reduced intercornual distance. Therapeutic options include hormonal therapy, particularly oestrogen administration, and surgical interventions aimed at expanding the uterine cavity. Hormonal treatments showed variable effectiveness, primarily beneficial in cases of oestrogen deficiency, while surgical approaches demonstrated some success in enhancing fertility outcomes in women with a hypoplastic uterus. Infantile uterus and uterine hypoplasia remain poorly understood, with no consensus on their aetiology. Accurate diagnosis relies on specific measurements and body/cervix ratios. Treatment options, including hormonal and surgical interventions, show limited success, indicating a need for further research to optimise management strategies. This review highlights the diagnostic challenges and the limited efficacy of current treatments for infantile uterus and uterine hypoplasia, emphasising the need for standardised diagnostic criteria and further research aiming to elucidate more effective therapeutic approaches.

This case report elucidates a scenario involving two sibling sisters born out of consanguineous marriage-one initially presenting with lower respiratory infection, concurrently exhibiting short stature and primary amenorrhoea. Investigation into the primary amenorrhoea unveiled hypergonadotropic hypogonadism, confirmed by the absence of ovaries and a hypoplastic uterus on pelvic MRI. Genetic analysis via whole exome sequencing identified a homozygous variant NM_001282717.2: c.808C>T in the MCM8 gene, located on exon 8 of chromosome 20, inherited in an autosomal recessive manner. The scarcity of primary ovarian insufficiency cases linked to MCM8 highlights the necessity of thoroughly investigating the genetic and clinical consequences of such variants.

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a congenital disorder affecting the female reproductive system, primarily characterized by the absence or underdevelopment of the uterus and upper two-thirds of the vagina, with preserved ovarian function and normal secondary sexual characteristics. It is a rare disease though prevalence may vary based on genetic and environmental factors. This report details a case of a 26-year-old female patient with a history of smoking, alcohol use, and prior inguinal hernioplasty, presenting with primary amenorrhea and inability to engage in vaginal intercourse. The physical examination revealed signs of androgenic acne, acanthosis in the breasts, Tanner stage 4 breast development, and a reduced clitoral hood. An imperforate hymen was confirmed upon clinical examination. Pelvic ultrasound showed a hypoplastic uterus. Laboratory findings indicated hypogonadotropic hypogonadism, and genetic testing ruled out Turner syndrome and imperforate hymen. The next step was magnetic resonance imaging (MRI) which confirmed uterine hypoplasia and vaginal too, leading to the diagnosis of MRKH syndrome. The patient underwent successful CO2 laser vaginoplasty, and psychological support was provided to address the emotional and social aspects related to the diagnosis. This case, being the first documented in Nicaragua, highlights the importance of early diagnosis and a personalized treatment approach that addresses both the physical and emotional aspects of patients. Additionally, it underscores the need for close collaboration between various specialties including gynecology, endocrinology, genetics, and psychology to ensure comprehensive and optimal clinical and emotional outcomes in the management of patients with MRKH syndrome.