ECE2021 Eposter Presentations Adrenal and Cardiovascular Endocrinology (21 abstracts)
Successful spontaneous pregnancy and successful delivery in a patient with severe 11-beta hydroxylase deficiency
Ahmet Suat Demir 1 , Şafak akın 2 , Damla Tufekci 1 , Yasemin Emur Gunay 1 , Muhammet Cuneyt Bilginer 1 , Ozge Ucuncu 1 , Hulya Coskun 1 , Irfan Nuhoglu 1 & Mustafa Kocak 1
1Karadeniz Technical University Faculty of Medicine, Department of Endocrinology and Metabolism, Trabzon, Turkey; 2University of Health Sciences, Gulhane Faculty of Medicine, Department of Endocrinology and Metabolism, Ankara, Turkey
Objective
11-Beta Hydroxylase deficiency (11ß0HD) is a rare form of congenital adrenal hyperplasia, resulting in glucocorticoid deficiency, virilization and hypertension. In the literature, there are rare case reports of successful pregnancy in a patient with genetically confirmed classic 11ß0HD.
Case
Our patient, now age 31, was diagnosed at birth with ambiguous genitalia. There was no family history of any intersex disorder. Deafness was detected when she was 8 months. She was commenced on hydrocortisone. She had a homozygous CYP11B1 gene mutation [NM_000497.3, p.L299P (c.896T>C)]. She underwent surgery, when she was four and 24. She has had hypertension for 19 years. She has used spironolactone intermittently. She had a spontaneous pregnancy four years ago. She was commenced methylprednisolone 4 mg in morning and dexamethasone 0.5 mg in evening in the first six months of her pregnancy. In the last 3 months, she used hydrocortisone 30 mg/day. Laboratory results are shown in Table 1. During the pregnancy her blood pressure was normal and ultrasound showed a female foetus. Elective caesarean section was performed at 34 weeks of gestation. She delivered a healthy female baby, with a birth weight of 2.750 g and with normal external genital. Her blood pressure was 160/100 mmHg six months after delivery and amiloride treatment was given. In the genetic examination of the family, the mother, father, two brothers and daughter were heterozygous positive for 11-Beta Hydroxylase deficiency, and her husband was normal. Now, she is taking hydrocortisone 20 mg/day.
| AD (n=28)(54.9%) | MR (n=9)(17.6%) | CB (n=14)(27.5%) | P | |
| Hypovolemia | 14 (50) | 8 (88.9) | 8 (57.1) | 0.087 |
| Hyponatremia | 14 (50) | 8 (88.9) | 8 (57.1) | 0.087 |
| Hypovolemic hyponatremia | 10 (35.7) | 7 (77.8) | 8 (57.1) | 0.07 |
| HMA | 8/17 (47.1) | 4/7 (57.1) | 5/8 (62.5) | 0.747 |
| SK | 5.4 ± 0.5 | 5.4 ± 0.3 | 5.3 ± 0.3 | 0.580 |
| SNa | 134 ± 7 | 130 ± 5 | 135 ± 4 | 0.155 |
| Serum Creatinine, mg/dl | 1.2 ± 0.6 | 1.3 ± 0.4 | 1.1 ± 0.5 | 0.544 |
| HCO3, mmol/l | 23.1 ± 3.8 | 23.3 ± 3.3 | 22.3 ± 3.6 | 0.828 |
| UNa | 87 ± 3 | 38 ± 15 | 68 ± 30 | 0.003 |
| UK | 30 ± 13 | 28 ± 15 | 33 ± 14 | 0.615 |
| UNa/UK ratio | 3.24 ± 1.62 | 1.5 ± 0.62 | 2.27 ± 1.17 | 0.009 |
| SK/SU ratio | 0.21 ± 0.08 | 0.22 ± 0.09 | 0.19 ± 0.08 | 0.594 |
| TTKG | 3.6 ± 1.3 | 4.8 ± 1.5 | 4.5 ± 1.2 | 0.099 |
| PAC | 43 [IQR:32–67] | 317 [IQR:256–610] | 128 [IQR:97–155] | <0.001 |
| PRC | 2.7 [IQR:1.2–10.4] | 14.4 [IQR:1.3–26.9] | 5.3 [IQR:2.8–12] | 0.279 |
Conclusion
There is limited knowledge in current literature regarding pregnancies in patient with 11ßOHD. Information on the disease is limited to case reports only.Our patient is the first report of a spontaneous successful pregnancy and successful delivery with 11ßOHD in Turkey.
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Endocrine Abstracts
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