Compliance Issues in Managing 21 Hydroxylase Deficiency and their Short/Long-Term Consequences

Objective: To report a case of untreated classic 21 hydroxylase (OH) deficiency congenital adrenal hyperplasia (CAH) in a transgender patient resulting in pulmonary embolisms (PEs) and bilateral adrenal masses. Methods: A 36-year-old male (birth sex: female) presenting with bilateral PEs in the setting of long-standing, untreated classic 21OH CAH was also found to have bilateral adrenal masses (unconfirmed myelolipomas). Results: Further history revealed a known diagnosis of CAH. The patient had been treated with glucocorticoid and mineralocorticoid replacement in childhood but stopped taking these medications against medical advice. During his hospital admission, he was noted to have elevated 17-hydroxyprogesterone, low cortisol with elevated ACTH levels, and male-level testosterone measurements. CT of the abdomen/ pelvis revealed a 23 cm mass in the left renal fossa and a 2.5 cm mass in the right renal fossa consistent with bilateral adrenal myelolipomas. The patient attended follow-up in clinic, but declined any further hormonal treatment as he identified as male and felt further treatment was unnecessary. Conclusion: This case demonstrated the unique long-term effects of untreated classic CAH due to 21OH deficiency, including bilateral adrenal myelolipoma, adrenal compensation to the point of producing male-level androgens, and possibly PEs. Treatment with hydrocortisone was recommended to suppress ACTH and it was planned that the patient would eventually start on testosterone (although this would have been complicated by his bilateral PEs). Potential aetiologies for the PEs included vascular compression of the renal artery (which could explain the elevated EPO/erythrocytosis contributing to hypercoagulability) or the renal vein by the adrenal mass.

Download Full-text

Giant adrenal myelolipoma associated with 21-hydroxylase deficiency: unusual association mimicking an androgen-secreting adrenocortical carcinoma

Arquivos Brasileiros de Endocrinologia & Metabologia ◽

10.1590/s0004-27302010000400012 ◽

2010 ◽

Vol 54 (4) ◽

pp. 419-424 ◽

Cited By ~ 19

Author(s):

Lívia Mara Mermejo ◽

Jorge Elias Junior ◽

Fabiano Pinto Saggioro ◽

Silvio Tucci Junior ◽

Margaret de Castro ◽

...

Keyword(s):

Differential Diagnosis ◽

Adrenal Gland ◽

Adrenocortical Carcinoma ◽

Adrenal Mass ◽

Surgical Excision ◽

Abdominal Ultrasound ◽

Hydroxylase Deficiency ◽

Adrenal Myelolipoma ◽

The Right ◽

21 Hydroxylase Deficiency

The objective of this study was to describe a case of giant myelolipoma associated with undiagnosed congenital adrenal hyperplasia (CAH) due to 21-hydroxylase (21OH) deficiency. Five seven year-old male patient referred with abdominal ultrasound revealing a left adrenal mass. Biochemical investigation revealed hyperandrogenism and imaging exams characterized a large heterogeneous left adrenal mass with interweaving free fat tissue, compatible with the diagnosis of myelolipoma, and a 1.5 cm nodule in the right adrenal gland. Biochemical correlation has brought concerns about differential diagnosis with adrenocortical carcinoma, and surgical excision of the left adrenal mass was indicated. Anatomopathologic findings revealed a myelolipoma and multinodular hyperplasic adrenocortex. Further investigation resulted in the diagnosis of CAH due to 21OH deficiency. Concluded that CAH has been shown to be associated with adrenocortical tumors. Although rare, myelolipoma associated with CAH should be included in the differential diagnosis of adrenal gland masses. Moreover, CAH should always be ruled out in incidentally detected adrenal masses to avoid unnecessary surgical procedures.

Download Full-text

Two Adults with Adrenal Myelolipoma and 21-Hydroxylase Deficiency

Case Reports in Medicine ◽

10.1155/2009/916891 ◽

2009 ◽

Vol 2009 ◽

pp. 1-4 ◽

Cited By ~ 10

Author(s):

Ingrid Nermoen ◽

Ivar Følling ◽

Kjetil Vegge ◽

Arne Larmo ◽

Bjørn Gunnar Nedrebø ◽

...

Keyword(s):

Benign Tumors ◽

Compound Heterozygous ◽

Adult Males ◽

Acth Stimulation ◽

Hydroxylase Deficiency ◽

Adrenal Myelolipoma ◽

Adrenal Masses ◽

Simple Virilizing ◽

The Masses ◽

21 Hydroxylase Deficiency

We present incidentally discovered adrenal myelolipomas in two adult males with untreated congenital adrenal hyperplasia (CAH). The patients had simple virilizing form of CAH due to mutations in theCYP21gene coding for 21-hydroxylase; one was heterozygous for the I172N mutation and the other compound heterozygous for the I172N and I2splice mutations. The masses were not removed since myelolipomas are considered benign tumors, and the tumor size did not increase during four- and nine-year observation periods. An adrenal myelolipoma is an important exception to the rule that large tumours should be removed. Untreated CAH with prolonged excessive ACTH stimulation might contribute to the growth of adrenal masses. CAH should be considered as a differential diagnosis of patients with adrenal masses or adrenal myelolipomas.

Download Full-text

Giant Bilateral Adrenal Myelolipoma with Congenital Adrenal Hyperplasia

Case Reports in Surgery ◽

10.1155/2014/728198 ◽

2014 ◽

Vol 2014 ◽

pp. 1-5 ◽

Cited By ~ 4

Author(s):

S. Al-Bahri ◽

A. Tariq ◽

B. Lowentritt ◽

D. V. Nasrallah

Keyword(s):

Congenital Adrenal Hyperplasia ◽

Abdominal Distension ◽

Adrenal Hyperplasia ◽

Hematopoietic Tissue ◽

Hydroxylase Deficiency ◽

Adrenal Myelolipoma ◽

Massive Growth ◽

History Of ◽

Adrenal Masses ◽

The Right

Myelolipomas are rare and benign neoplasms, predominant of the adrenal glands, consisting of adipose and mature hematopoietic tissue, commonly discovered incidentally with increased use of radiologic imaging. Few cases of giant bilateral adrenal masses are reported, especially in the setting of congenital adrenal hyperplasia (CAH). We report the case of a 39-year-old male with a history of CAH secondary to 21-αhydroxylase deficiency on steroids since childhood, self-discontinued during adolescence, presenting with abdominal distension, fatigue, decreased libido, and easy bruising. Imaging revealed giant bilateral adrenal masses. He subsequently underwent bilateral adrenalectomy found to be myelolipomas measuring 30 × 25 × 20 cm on the left and weighing 4.1 kg and 25 × 20 × 13 cm on the right and weighing 2.7 kg. Adrenal myelolipomas are found to coexist with many other conditions such as Cushing’s syndrome, Addison’s disease, and CAH. We discuss the association with high adrenocorticotropic hormone (ACTH) states and review the studies involving ACTH as proponent leading to myelolipomas. Massive growth of these tumors, as in our case, can produce compression and hemorrhagic symptoms. We believe it is possible that self-discontinuation of steroids, in the setting of CAH, may have resulted in the growth of his adrenal masses.

Download Full-text

MASSIVE ADRENOCORTICAL ADENOMA FOLLOWING LONG-TERM TREATMENT OF 21-HYDROXYLASE DEFICIENCY

The Journal of Urology ◽

10.1016/s0022-5347(05)65311-6 ◽

2002 ◽

Vol 167 (3) ◽

pp. 1390-1391 ◽

Cited By ~ 4

Author(s):

SAYURI TAKAHASHI ◽

SHIGERU MINOWADA ◽

KYOUICHI TOMITA ◽

NORIYUKI KATUMATA ◽

TOSHIAKI TANAKA ◽

...

Keyword(s):

Term Treatment ◽

Adrenocortical Adenoma ◽

Hydroxylase Deficiency ◽

Long Term Treatment ◽

21 Hydroxylase Deficiency

Download Full-text

QOL-09. WHOLE-BRAIN WHITE MATTER NETWORK CONNECTIVITY IS DISRUPTED BY PEDIATRIC BRAIN TUMOR TREATMENT

Neuro-Oncology ◽

10.1093/neuonc/noaa222.673 ◽

2020 ◽

Vol 22 (Supplement_3) ◽

pp. iii432-iii432

Author(s):

Adeoye Oyefiade ◽

Kiran Beera ◽

Iska Moxon-Emre ◽

Jovanka Skocic ◽

Ute Bartels ◽

...

Keyword(s):

White Matter ◽

Pediatric Brain Tumor ◽

Pediatric Brain Tumors ◽

Magnetic Resonance Images ◽

Long Term Effects ◽

Brain White Matter ◽

The Right ◽

Pediatric Brain ◽

Betweeness Centrality

Abstract INTRODUCTION Treatments for pediatric brain tumors (PBT) are neurotoxic and lead to long-term deficits that are driven by the perturbation of underlying white matter (WM). It is unclear if and how treatment may impair WM connectivity across the entire brain. METHODS Magnetic resonance images from 41 PBT survivors (mean age: 13.19 years, 53% M) and 41 typically developing (TD) children (mean age: 13.32 years, 51% M) were analyzed. Image reconstruction, segmentation, and node parcellation were completed in FreeSurfer. DTI maps and probabilistic streamline generation were completed in MRtrix3. Connectivity matrices were based on the number of streamlines connecting two nodes and the mean DTI (FA) index across streamlines. We used graph theoretical analyses to define structural differences between groups, and random forest (RF) analyses to identify hubs that reliably classify PBT and TD children. RESULTS For survivors treated with radiation, betweeness centrality was greater in the left insular (p < 0.000) but smaller in the right pallidum (p < 0.05). For survivors treated without radiation (surgery-only), betweeness centrality was smaller in the right interparietal sulcus (p < 0.05). RF analyses showed that differences in WM connectivity from the right pallidum to other parts of the brain reliably classified PBT survivors from TD children (classification accuracy = 77%). CONCLUSIONS The left insular, right pallidum, and right inter-parietal sulcus are structurally perturbed hubs in PBT survivors. WM connectivity from the right pallidum is vulnerable to the long-term effects of treatment for PBT.

Download Full-text

Inhibition of post-partum maternal behaviour in the rat by injecting an oxytocin antagonist into the cerebral ventricles

Journal of Endocrinology ◽

10.1677/joe.0.1120275 ◽

1987 ◽

Vol 112 (2) ◽

pp. 275-282 ◽

Cited By ~ 168

Author(s):

E. van Leengoed ◽

E. Kerker ◽

H. H. Swanson

Keyword(s):

Wistar Rats ◽

Post Partum ◽

Rapid Onset ◽

Maternal Behaviour ◽

Cerebral Ventricles ◽

Long Term Effects ◽

Nesting Material ◽

The Right ◽

Oxytocin Antagonist

ABSTRACT Endogenous oxytocin released into the brain at parturition may stimulate the onset of maternal behaviour. In this study an attempt was made to block spontaneous maternal behaviour following natural delivery in Wistar rats by the injection of an antagonist of oxytocin into the cerebral ventricles. The analogue antagonist, d(CH2)5-8-ornithine-vasotocin, was administered by injection into a chronically implanted cannula in the right lateral ventricle at hourly intervals, beginning immediately after the expulsion of the first pup. The antagonist did not interfere with the normal progress of parturition or birth-related behaviours. After delivery of the last pup, mothers rested for 40 min in the test cage with the pups having been removed. Four pups and standard nesting material were then presented. Latency to pup carrying and duration of pup manipulation, nest building, and time spent on the nest with the pups, as well as duration of autogrooming and general activity were determined. Saline-injected controls started gathering the pups immediately and usually showed all elements of maternal behaviour within 10 min. Antagonist-treated mothers showed a marked delay in the onset of pup grouping and other maternal behaviours. At the end of 1 h, two out of six mothers had not yet picked up a single infant. Pups left overnight with their mothers were gathered into the nest and suckled, and no long-term effects of the antagonist were evident on retesting. The effectiveness of oxytocin antagonist in suppressing the rapid onset of post-partum maternal behaviour supports the hypothesis that centrally released oxytocin is involved in this process. It is noteworthy that these effects were obtained in Wistar rats, a strain in which oxytocin has failed to accelerate responsiveness to pups in virgin females. J. Endocr. (1987) 112, 275–282

Download Full-text

Dynamic CT Scan of the Normal Scapholunate Joint in a Clenched Fist and Radial and Ulnar Deviation

Hand ◽

10.1177/1558944717726372 ◽

2017 ◽

Vol 13 (6) ◽

pp. 666-670 ◽

Cited By ~ 3

Author(s):

Paul M. Kelly ◽

John G. Hopkins ◽

Andrew J. Furey ◽

Daniel S. Squire

Keyword(s):

Ct Scan ◽

Range Of Motion ◽

Ct Imaging ◽

Dynamic Ct ◽

Long Term Effects ◽

Ulnar Deviation ◽

Left Wrist ◽

The Right ◽

User Friendly

Background: Injuries to the scapholunate can have severe long-term effects on the wrist. Early detection of these injuries can help identify pathology. The purpose of this study was to evaluate the motions of the scapholunate joint in normal wrists in a clenched fist and through radial and ulnar deviation using novel dynamic computed tomography (CT) imaging. Methods: Fifteen participants below 40 years of age consented to have their wrist scanned. Eight participants were randomized to have the right wrist scanned and 7 the left wrist. Volunteers were positioned at the back of the gantry with the wrist placed on the table, palmar side down. Participants began with the hand in a relaxed fist position and then proceeded through an established range of motion protocol. Dynamic CT imaging was captured throughout the range of motion. Results: The movement in the healthy scapholunate joint through a clenched fist and radial and ulnar deviation is minimal. The averages were 1.19, 1.01, and 0.95 mm, representing the middle, dorsal, and volar measurements, respectively. Conclusions: This novel dynamic CT scan of the wrist is a user-friendly way of measuring of the scapholunate distance, which is minimal in the normal wrist below 40 years of age.

Download Full-text

Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency (Salt-Losing Form and Simple Virilizing Form): Long-Term Results of Treatment

Therapeutic Outcome of Endocrine Disorders ◽

10.1007/978-1-4612-1230-0_18 ◽

2000 ◽

pp. 177-185

Author(s):

Claude J. Migeon

Keyword(s):

Congenital Adrenal Hyperplasia ◽

Long Term Results ◽

Adrenal Hyperplasia ◽

Hydroxylase Deficiency ◽

Results Of Treatment ◽

Simple Virilizing ◽

21 Hydroxylase Deficiency

Download Full-text

Long-Term Health Outcomes of Korean Adults With Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency

Frontiers in Endocrinology ◽

10.3389/fendo.2021.761258 ◽

2021 ◽

Vol 12 ◽

Author(s):

Seung Gyun Lim ◽

Young Ah Lee ◽

Han Na Jang ◽

Sung Hye Kong ◽

Chang Ho Ahn ◽

...

Keyword(s):

Dehydroepiandrosterone Sulfate ◽

Metabolic Risk ◽

Menstrual Irregularity ◽

Adrenal Hyperplasia ◽

Hydroxylase Deficiency ◽

Classic Congenital Adrenal Hyperplasia ◽

Increased Risk ◽

21 Hydroxylase Deficiency ◽

Age And Sex

There is a lack of studies regarding the long-term outcomes of Asian adults with classic congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency. We hypothesized that adults with CAH are at higher metabolic risk than their age-, and sex-matched controls. We further investigated the long-term health outcome-related factors in adults with CAH. We compared metabolic risk between adults with CAH (71 men, 93 women) and age-, and sex-matched controls (190 men, 261 women) from the Korean National Health and Nutrition Examination Survey data. The presence of obesity, testicular adrenal rest tumors (TARTs), and menstrual irregularity was assessed. Hormone status and treatment regimens were compared according to the presence of adverse outcomes. The median age was 27.0 y and 28.0 y for men and women, respectively. Adults with CAH had a higher waist circumference (88.0 vs. 82.3 cm in men, and 83.5 vs. 72.3 cm in women), and blood pressure (125.0 vs. 113.0 mmHg in men, and 120.0 vs. 104.0 mmHg in women) than age- and sex-matched controls (P<0.05 for all). The 2.7-fold increased risk for hypertension (men) and 2.0-fold increased risk for obesity (women) was significant in patients with CAH (P<0.05 for both). Obese adults with CAH showed significantly higher adrenal limb thicknesses (men) and 17-hydroxyprogesterone and dehydroepiandrosterone sulfate levels (women) (P<0.05 for both). TARTs occurred in 58.1% of men and did not differ by hormone or treatment regimen. Irregular menstruation was observed in 57.1% of women, with higher dehydroepiandrosterone sulfate levels in those with irregular periods. Adults with CAH had a higher metabolic risk than the general population. Poor disease control may increase their risk of metabolic morbidity and menstrual irregularity.

Download Full-text