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Endocrine Abstracts (2019) 63 P1169 | DOI: 10.1530/endoabs.63.P1169

ECE2019 Poster Presentations Thyroid 3 (74 abstracts)

Surprizing diagnosis of congenital adrenal hyperplasia in a young infertile patient

Elena Mirela Iancu 1 , Dragos Albu 1, , Alice Albu 1, , Irina Nicolaescu 1 & Irina Patrascu 1


1Endocrinology and Diabetes Department, Elias Hospital, Bucharest, Romania; 2Reproductive Medicine Department, Medlife Hospital, Bucharest, Romania; 3Carol Davila University of Medicine and Pharmacy, Bucharest, Romania.


Congenital adrenal hyperplasia (CAH) is a group of diseases which develop as a result of deficient enzymes or co-factor proteins required for cortisol biosynthesis. Depending on the defect, the manifestations range from life-threatening salt-wasting syndrome to almost no symptoms. Nevertheless, some subclinical subtypes can cause impediments in particular situations. This case brings to light a possible manifestation of CAH, revealed in the process of in-vitro fertilization. We present the case of a 32 year old woman who was referred for endocrinological evaluation from a Reproductive Medicine Department with suspicion of CAH. She was previously diagnosed with idiopathic infertility and started an IVF procedure, but during controlled ovarian stimulation (COS) high progesterone levels (5–6 ng/mL) were observed. Therefore, all the embryos were frozen and additional blood tests were performed. A high value of 17-hydroxiprogesterone (11.42 ng/ml) in association with low morning serum cortisol (5 microg/dL) and high ACTH levels (>2000 pg/mL) were found. She had no significant family history. Her gynecologic history included menarche at the age of 14 and periods of oligomenorrhea alternating with regular menstrual cycles throughout her life. She also had autoimmune thyroiditis with hypothyroidism and was using adequate L-thyroxin replacement therapy. The physical exam was unremarkable. During the endocrinological evaluation we found a low blood sodium concentration (130 mmol/l), low serum testosterone levels (6.38 ng/dl), high 11-deoxicorticosterone (0.26 ug/L), low DHEA-S (6.3 ug/dl), high 17OHP, low normal cortisol level (5.68 microgr/dl) and ACTH >2000 pg/ml. An ACTH stimulation test was performed which showed unstimulated cortisol levels 5.35 micrograms/dl, high 11-deoxicorticosterone 0. 36 ug/L and 17 (OH) progesterone (12.92 ng/ml) one hour after stimulation. Because not one enzymatic defect could explain all of the biochemical anomalies, we suspect a mixt enzymatic defect of 17,20 lyase and 11 hydroxylase. Hydrocortisone treatment in doses of 20 mg/day was started. After two months of treatment her ACTH values declined to 631.3 pg/ml, but serum progesterone remained high. The hydrocortisone dose was augmented to 25 mg/day. Besides underlying the pathophysiologic mechanisms, our aim is to find the most suitable treatment for infertility, as high progesterone levels throughout controlled ovarian stimulation is a well-recognized cause of implantation failure.

Volume 63

21st European Congress of Endocrinology

Lyon, France
18 May 2019 - 21 May 2019

European Society of Endocrinology 

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