Related Experiment Video
Updated: Oct 5, 2025

A Hyperandrogenic Mouse Model to Study Polycystic Ovary Syndrome
Published on: October 2, 2018
A Case Report of Hyperestrogenism in Prader-Willi Syndrome
Isabella Albanese1, Natasha Garfield2
1Department of Medicine, McGill University, Montreal, Quebec, Canada.
Objective:
Prader-Willi syndrome (PWS) is associated with multiple endocrinopathies, including hypogonadism. The mechanism underlying hypogonadism in PWS is thought to be secondary to hypothalamic dysfunction, primary gonadal defect, or a combination of both. Here, we present a case of hyperestrogenism in PWS due to concomitant polycystic ovary syndrome (PCOS) and therapeutic considerations regarding hormone replacement therapy (HRT).
Case Report:
An 18-year-old woman with PWS transferred to adult care from pediatrics was found to have hyperestrogenism (specifically, elevated estrone with normal estradiol levels). Additionally, she demonstrated oligomenorrhea and hyperandrogenism, meeting diagnostic criteria for PCOS. After 3 months of therapy with cyclic medroxyprogesterone alone, she developed normal withdrawal bleeding.
Discussion:
Given the elevated estrone and normal estradiol levels, our patient's hyperestrogenism is thought to be a direct result of her hyperandrogenism due to peripheral conversion. Prolonged exposure to unopposed estrogen is an established risk factor for endometrial cancer development in PCOS; thus, this was taken into account regarding her HRT, and she was treated with cyclic progesterone alone.
Conclusion:
Women with PWS are typically treated with combined estrogen and progesterone HRT; however, our case, a unique presentation of PCOS in PWS, demonstrated the importance of tailoring HRT to a patient's specific needs.
Related Concept Videos
Adrenal Gland Disorders
Adrenal insufficiency, characterized by insufficient cortisol and aldosterone production, leads to conditions like Addison's disease. This disorder, affecting the adrenal cortex, exhibits symptoms such as skin bronzing, dehydration, low blood pressure, fatigue, and weight loss. Congenital adrenal hyperplasia, a genetic ailment causing...
Genomic Imprinting and Inheritance
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
Pleiotropy
Inborn Errors of Metabolism
Overview of Protein Metabolism
Amino acids play various roles in the body once they are absorbed into cells. They are restructured...
Smooth Endoplasmic Reticulum
The ER provides optimal conditions for synthesizing steroid hormones and lipids, such as phospholipids and triglycerides. Traditionally, lipid metabolism was considered to be a smooth ER function. However, there is no direct evidence to prove that rough ER is completely excluded from lipid...

