SUN-173 - Underserved and Undertreated: Highlighting Socioeconomic and Systemic Barriers in A Case of Idiopathic Hypogonadotropic Hypogonadism

Background: Congenital or Idiopathic Hypogonadotropic Hypogonadism (HH) is one of the causes of delayed puberty. It is important to diagnose and treat HH in a timely manner at ages of physiologic puberty in order to limit some physiologic and somatic consequences. We describe a case of a 20 year old female who had delayed diagnosis and suboptimal management of HH highlighting the impact of limited healthcare access in an underserved community.

Case Presentation: A 20 year old female presented for evaluation of primary amenorrhea. She initially presented to her primary care physician at age 15 due to absence of menstrual cycle, but evaluation was initiated at age 17. There is no history of poor oral intake, excessive physical activity, or sexual activity. Family history significant for delayed puberty in mother, maternal aunt, and maternal grandmother. On examination, vital signs were stable with BMI of 18.70 kg/msq. Breast development was noted to be Tanner stage II-III (Delayed thelarche without progress). Pubic and axillary hair development is normal (adrenarche). Initial labs significant for low LH and FSH < 5, low estradiol < 20 with normal remaining pituitary function including TSH, Free T4, Prolactin, AM cortisol levels. Karyotype showed 46 XX. She was incorrectly started on combined oral contraceptive pills (OCPs) for primary amenorrhea. Four years later, the patient was referred to adult endocrinology once she attained adulthood. MRI pelvis demonstrated hypoplastic uterus with normal appearing small ovaries with multiple follicles. She was diagnosed as congenital/idiopathic HH based on all the above findings, and was started on transdermal estradiol patch. X- Ray bone assessment revealed a skeletal age of 14 years and 9 months, significantly delayed compared to her chronological age at the time of her diagnosis at age 20.

Discussion & Key Learning points: This patient’s presentation is consistent with congenital or idiopathic HH, which was misdiagnosed and inappropriately treated with OCPs prior to proper diagnosis. Incorrect use of high dose estrogen might impose risk of premature growth plate fusion in these patients. One of the major contributing factors in this case is limited health care access in an underserved area. The situation not only delayed prompt referral to endocrinology, it in fact led to mismanagement and suboptimal outcomes. HH should be considered and promptly differentiated from constitutional delay of puberty- especially in adolescent females older than 18 years of age with primary amenorrhea and delayed puberty. Primary care physicians should have awareness regarding early thorough diagnostic evaluation of primary amenorrhea prior to initiation of hormone therapy and timely referral to endocrinology to optimize outcomes.

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