Category: Adrenal Disorders

Monitor: 27

27 - TREATMENT DILEMMA OF 21- HYDROXYLASE DEFICIENCY IN VIEW OF GENDER PREFERENCES

Saturday, Apr 27
10:00 AM – 10:30 AM

Objective :

The most common form of congenital adrenal hyperplasia (CAH) is due to 21-Hydroxylase (21- OH) deficiency, accounting for 95% of the cases. This enzyme is encoded by the CYP21A2 gene, and so far 300 mutations have been reported. 21-OH CAH is classified into three types based on residual enzymatic activity, classic salt-wasting form, classic simple virilizing form, and nonclassic form. Here we report a case of a virilizing form of 21-OH CAH, where the patient preferred to remain gender neutral and was off of glucocorticoids.


Methods :

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Results :

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Discussion :

A 31-year-old woman with CAH was admitted to ICU for septic shock secondary to pyelonephritis. The patient received IV fluids, pressor and stress doses of hydrocortisone. CT abdomen/pelvis revealed marked enlargement of both adrenal glands. Endocrinology was consulted for CAH. Initially, the patient was delirious, but within 24 hours she responded to steroids and her clinical condition improved. She was diagnosed with CAH at birth and did undergo vaginal reconstruction due to ambiguous genitalia. She stopped steroid replacement at the age of 16 as she could not afford follow-up medical care. She had hysterectomy with bilateral salpingectomy when she was young for an ovarian infection. Patient denies Hypertension or electrolyte imbalances. She preferred to be gender neutral.  On physical exam, the patient had a fully developed male habitus with a fully developed beard, fatty breasts with nipple pigmentation, male pattern hair on chest and abdomen and female genitalia. Evaluation while on stress doses of hydrocortisone showed elevated pregnenolone-1270 ng/dl (15-132), 17-OH progesterone-6590ng/dl (35-290), androstenedione 38ng/ml (0.13-0.82), total testosterone-811ng/dl (5.71-77) and DHEAS-523mcg/dl (45-270). 11-deoxycortisol<10ng/dl (<32) and 11-deoxycorticosterone <5ng/dl (<19) with normal ACTH-30pg/ml (6-58).  Considering the clinical presentation and the lab work, the patient fitted into the category of classic 21 hydroxylase deficiency, virilizing form. The patient recovered well and was discharged on hydrocortisone to prevent future adrenal crisis episodes. She failed to keep a follow-up appointment to further confirm her diagnosis.



 


Conclusion : The approach towards sexual orientation is an ongoing topic. In a case like this, where patient wishes to remain gender neutral, it is reasonable to offer treatment with glucocorticoids to prevent adrenal crisis during major stress episodes, while at the same time acknowledging the patient’s wishes. Molecular studies might be reasonable under these circumstances to know about the residual enzymatic activity to assist in decisions with long-term management of these patients.

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Jahnavi Chakrala

ENDOCRINOLOGY FELLOW (PGY-5)
TEXAS TECH UNIVERSITY HEALTH SCIENCES CENTER, PERMIAN BASIN, ODESSA
Odessa, Texas

Jahnavi Chakrala, MD,
7/2017- Current- Endocrine Fellowship, TTUHSC, Permian Basin
07/2014- 2/2017- Hospitalist at Presbyterian Hospital, NM
06/2011- 06/2014 - Residency at St. John’s Episcopal Hospital, NY
09/2010-01/2011- Volunteer experience- Methodist University Hospital, Memphis, TN
06/2000-05/2006- Medical school- Narayana Medical College, India
Board Certification- Internal Medicine- 2014
Poster presentations:
Parathyroid Crisis in a Young adult- At AACE, 2017, First author,
Herpes Simplex Pneumonitis in a critically ill patient- At MSSNY, 2013, First author
Fatal Herpes Simplex Virus Hepatitis in an immunocompromised patient- At MSSNY 2013, Second author

James K. Burks

Endocrinology Fellowship Program Director
Texas Tech Health Science Center of the Permian Basin
Odessa, Texas

BIOGRAPHICAL SKETCH
Provide the following information for the key personnel and other significant contributors.
Follow this format for each person. DO NOT EXCEED TWO PAGES.

NAME
James K. Burks, MD POSITION TITLE: Professor of Medicine

EDUCATION/TRAINING (Begin with baccalaureate or other initial professional education, such as nursing, and include postdoctoral training.)
INSTITUTION AND LOCATION DEGREE
(if applicable) YEAR(s) FIELD OF STUDY
Texas Technological College, Lubbock, TX BS 1963-1967 Microbiology
Univ. Tex. Southwestern Med. School, Dallas, TX MD 1967-1971 MD
Vanderbilt, Nashville, TN Resident 1971-1973 Internal Medicine
NIH, NISMDD, Bethesda, MD Staff Assoc. 1973-1975 Admin; collagen research
Strong Mem. Hospital, Rochester, NY Fellow 1975-1976 Endocrinology
Washington Univ., St. Louis, MO Fellow 1976-1979 Endocrinology


A. Positions and Honors

Assoc. Professor of Medicine, Texas Tech of the Permian Basin, Odessa, TX 1994-2003
Program Director, Internal Medicine, Texas Tech of the Permian Basin 1996-2014
Chairman, Department of Internal Medicine, Texas Tech of the Permian Basin 2002-2004
Professor of Medicine, Texas Tech of the Permian Basin, Odessa, TX 2003-
Excellence in Teaching in Clinical Sciences, TTUHSC 1998-1999
ACGME Parker J. Palmer Courage to Teach Award 2008-2009
TTUHSC Dean’s Clinical Teaching Award 2008-2009
Program Director Endocrinology Fellowship, Texas Tech of the Permian Basin 2016-

B. Selected Publications

Adnan Haider MD, James K Burks MD, Cheema HI, MD, Angel Tejada, MD
Postprandial Hypoglycemia: Complication of peptic ulcer surgery
Am J Med 2017: 130(12); e527-529 PubMED ID 28711557

Peck, W.A., Burks, J.K., Wilkins, J., Rodan, S. B., Rodan, G.A.
Evidence for preferential effects of parathyroid hormone, calcitonin and
adenosine on bone and periosteum
Endocrinology, 1977, Volume 100(S), pp. 1357-1364

Burks, J. K., and Peck, W.A.
Bone cells: A serum-free medium supports proliferation in primary culture
Science, 1978, Volume 199, pp. 542-544

Burks, J. K., and Peck W. A,
Growth and differentiation of isolated calvarium cells in a serum-free medium
International Review of Cytology, Supplement 10, 1979, pp. 103-115:
Edited by W. W. Nichols and D. G. Murphy



C. Recent Posters and Abstracts

Haider A, Ramirez A, Siddiqui A, Burks J. Primary Adrenal Lymphoma Presenting as Bilateral Adrenal Masses (Poster presented at the AACE 26th Annual Scientific and Clinical Congress at Austin, TX, May 3-7, 2017)
Siddiqui A, Hasan S, Spellman C, Burks J. An Unusual Presentation of Graves Ophthalmopathy (Poster presented at the AACE 27th Annual Scientific and Clinical Congress at Boston, MA, May 16-20, 2018)
Chakrala J, Hasan S, Siddiqui A, Chemitiganti R, Burks J. Parathyroid Crisis in a Young Male (Poster presented at the AACE 27th Annual Scientific and Clinical Congress at Boston, MA, May 16-20, 2018)
Hasan S, Siddiqui A, Burks J. A Rare Cause of Graves Disease in HIV Infection (Poster presented at the AACE 27th Annual Scientific and Clinical Congress at Boston, MA, May 16-20, 2018)
Hassan S, Burks J. Graves' Disease and Thyroid Eye Disease in HIV Patient Due to Immune Reconstitution Inflammatory Syndrome. (100th Annual Meeting of the Endocrine Society, Chicago, IL)