Congenital Absence of Ovaries with Hypoplastic Uterus in Pediatric Patient
Case at a Glance
A 9-year-old female patient presented with congenital absence of ovaries and hypoplastic uterus discovered during routine pediatric evaluation.
Patient's Story
Parents brought their 9-year-old daughter for evaluation following imaging studies that revealed absent ovaries and an underdeveloped uterus. The family is concerned about future pubertal development, fertility potential, and treatment options. They are seeking guidance on hormone replacement therapy and its implications for their daughter's long-term health and development.
Initial Assessment
Physical examination and imaging studies confirmed bilateral ovarian agenesis with hypoplastic uterus. The patient is currently prepubertal with no signs of secondary sexual characteristics. Baseline hormone levels were consistent with hypogonadism.
The Diagnostic Journey
Initial presentation included routine pediatric care with subsequent imaging revealing the anatomical abnormalities. Further endocrinological evaluation confirmed the absence of functional ovarian tissue and underdeveloped uterine structure.
Final Diagnosis
Congenital bilateral ovarian agenesis with hypoplastic uterus (likely Mayer-Rokitansky-Küster-Hauser syndrome variant or related müllerian anomaly)
Treatment Plan
Hormone replacement therapy is planned to be initiated at an appropriate age to induce pubertal development and maintain bone health. The treatment will involve estrogen therapy followed by combined estrogen-progesterone therapy to simulate normal pubertal progression and maintain endometrial health.
Outcome and Follow-up
Regular endocrinological follow-up scheduled to monitor growth, bone density, and pubertal development. Psychological support and counseling planned for the patient and family. Future discussions will include fertility options such as assisted reproductive technologies with donor eggs. Long-term monitoring for hormone therapy effects and overall health maintenance is essential.