scholarly journals Two Adults with Adrenal Myelolipoma and 21-Hydroxylase Deficiency

2009 ◽  
Vol 2009 ◽  
pp. 1-4 ◽  
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.

scholarly journals A Greek girl with 11β-hydroxylase deficiency due to compound heterozygosity for two novel mutations in CYP11B1 gene

2015 ◽  
Vol 2015 ◽  
Author(s):  
Chrisanthi Marakaki ◽  
Anna Papadopoulou ◽  
Olga Karapanou ◽  
Dimitrios T Papadimitriou ◽  
Kleanthis Kleanthous ◽  
...  
Keyword(s):  
External Genitalia ◽  
Bone Age ◽  
Compound Heterozygous ◽  
List Type ◽  
Novel Mutations ◽  
Acth Stimulation ◽  
Adrenal Androgen ◽  
Hydroxylase Deficiency ◽  
Adrenal Androgens ◽  
21 Hydroxylase Deficiency

Summary 11β-hydroxylase deficiency (11β-OHD), an autosomal recessive inherited disorder, accounts for 5–8% of congenital adrenal hyperplasia. In Greece, no cases of 11β-OHD have been described so far. The patient presented at the age of 13 months with mild virilization of external genitalia and pubic hair development since the age of 3 months. Hormonal profile showed elevated 11-deoxycortisol, adrenal androgens and ACTH levels. ACTH stimulation test was compatible with 11β-OHD. DNA of the proband and her parents was isolated and genotyped for CYP11B1 gene coding cytochrome P450c11. The girl was found to be compound heterozygous for two CYP11B1 novel mutations, p.Ala386Glu (exon 7), inherited from the father and p.Leu471Argin (exon 9) from the mother. Hydrocortisone supplementation therapy was initiated. Four years after presentation she remains normotensive, her growth pattern is normal and the bone age remains advanced despite adequate suppression of adrenal androgens. Learning points 11β-hydroxylase (CYP11B1) deficiency (11OHD; OMIM +202010) is the second most common cause of CAH accounting for approximately 5–8% of cases with an incidence of 1:100 000–1:200 000 live births in non-consanguineous populations. Two CYP11B1 inactivating novel mutations, p.Ala386Glu and p.Leu471Arg are reported Regarding newborn females, in utero androgen excess results in ambiguous genitalia, whereas in the male newborn diagnosis may go undetected. In infancy and childhood adrenal androgen overproduction results in peripheral precocious puberty in boys and various degrees of virilization in girls. Accumulation of 11-deoxycorticosterone and its metabolites causes hypertension in about two thirds of patients. Diagnosis lies upon elevated 11-deoxycortisol and DOC plus upstream precursors, such as 17α-hydroxyprogesterone and Δ4-androstenedione. The established treatment of steroid 11β-OHD is similar to that of steroid 21-hydroxylase deficiency and consists of glucocorticoid administration in order to reduce ACTH-driven DOC overproduction resulting in hypertension remission and improvement of the virilization symptoms.

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

2021 ◽  
Author(s):  
Jack Lin ◽  
Teck K Khoo ◽  
Erin R Voelschow ◽  
Zachary J Viets
Keyword(s):  
Hormonal Treatment ◽  
Vascular Compression ◽  
Long Term Effects ◽  
Hydroxylase Deficiency ◽  
Adrenal Myelolipoma ◽  
Male Birth ◽  
Adrenal Masses ◽  
The Right ◽  
21 Hydroxylase Deficiency

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.

scholarly journals Low-dose ACTH test for the diagnosis of non-classical form of congenital adrenocortical dysfunction

2010 ◽  
Vol 56 (2) ◽  
pp. 10-14
Author(s):  
N B Chagaĭ ◽  
V V Fadeev ◽  
E G Bakulina
Keyword(s):  
Low Dose ◽  
Stimulation Test ◽  
Acth Test ◽  
Acth Stimulation Test ◽  
Acth Stimulation ◽  
Hydroxylase Deficiency ◽  
Classical Form ◽  
21 Hydroxylase Deficiency

The possibilities to diagnose the non-classical form of 21-hydroxylase deficiency using the low-dose (5 mcg) 1-24 ACTH stimulation test are considered.

Therapeutic challenges in a patient with the simple virilizing (SV) form of congenital adrenal hyperplasia (CAH) due to the P30L/I172N genotype

2019 ◽  
Vol 32 (5) ◽  
pp. 543-547 ◽  
Author(s):  
Maja Tankoska ◽  
Violeta Anastasovska ◽  
Marina Krstevska-Konstantinova ◽  
Michel Naydenov ◽  
Mirjana Kocova
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Polymerase Chain Reaction Amplification ◽  
Point Mutations ◽  
External Genitalia ◽  
High Serum ◽  
Adrenal Hyperplasia ◽  
Hydroxylase Deficiency ◽  
Her Family ◽  
Simple Virilizing ◽  
21 Hydroxylase Deficiency

Abstract Background Steroid 21-hydroxylase deficiency is an autosomal recessive disorder, present in 90–95% of all cases with congenital adrenal hyperplasia (CAH). The classical simple virilizing (SV) form of the disease causes virilization of the external genitalia in newborn females and pseudo-precocious puberty in both sexes, due to reactive androgen overproduction. Case presentation We describe a 3.5-year-old girl presenting with pubarche, P2 according to Tanner, advanced bone age of 6 years and 10 months, and high serum levels of 17-hydroxyprogesterone (17-OHP). Molecular analysis of the nine most common pseudogene-derived CYP21A2 point mutations was performed in the patient and her family members using the polymerase chain reaction/amplification-created restriction site (PCR/ACRS) method. We detected the P30L/I172N genotype in the patient. She had inherited a mild P30L mutation from her mother and a severe I172N mutation from her father. Conclusions Although the CAH phenotype is determined by the allele that produces most of the enzyme activity and the mild non-classical (NC) phenotype should be expected, the mild P30L known to be more virilizing probably induced the classical SV phenotype in our patient. A continuous regimen of hydrocortisone at a recommended dose failed to decrease the 17-OHP sufficiently. Careful tapering of the dose did not help, and her pubic hair advanced to P3 according to Tanner. Individually tailored treatment is warranted in this patient.

scholarly journals 21-Hydroxylase Deficiency Presenting as Massive Bilateral Adrenal Masses in the Seventh Decade of Life.

1999 ◽  
Vol 46 (6) ◽  
pp. 817-823 ◽  
Author(s):  
KATSUMI ABO ◽  
KIMIAKI SUMINO ◽  
HISAHIDE NISHIO ◽  
TOSHIKI HOZUMI ◽  
YOSHIHIKO ISHIDA ◽  
...  
Keyword(s):  
Hydroxylase Deficiency ◽  
Adrenal Masses ◽  
21 Hydroxylase Deficiency

Lack of ACTH and Androgen Receptor Expression in a Giant Adrenal Myelolipoma Associated with 21-hydroxylase Deficiency

2008 ◽  
Vol 19 (2) ◽  
pp. 122-127 ◽  
Author(s):  
Hanae Hagiwara ◽  
Takeshi Usui ◽  
Takashi Kimura ◽  
Tetsuya Tagami ◽  
Mitsuhide Naruse ◽  
...  
Keyword(s):  
Androgen Receptor ◽  
Receptor Expression ◽  
Androgen Receptor Expression ◽  
Hydroxylase Deficiency ◽  
Adrenal Myelolipoma ◽  
21 Hydroxylase Deficiency

Substitutions in the CYP21A2 promoter explain the simple-virilizing form of 21-hydroxylase deficiency in patients harbouring a P30L mutation

2005 ◽  
Vol 62 (2) ◽  
pp. 132-136 ◽  
Author(s):  
Rogerio S. Araujo ◽  
Ana Elisa C. Billerbeck ◽  
Guiomar Madureira ◽  
Berenice B. Mendonca ◽  
Tania A. S. S. Bachega
Keyword(s):  
Hydroxylase Deficiency ◽  
Simple Virilizing ◽  
21 Hydroxylase Deficiency
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