A Rare Combination: Congenital Adrenal Hyperplasia Due To 21 Hydroxylase Deficiency and Turner Syndrome

Kendırcı, Havva Nur Peltek; Aycan, Zehra; Çeti̇nkaya, Semra; Baş, Veysel Nijat; Ağladıoğlu, Sebahat Yılmaz; Önder, Aşan

doi:10.4274/jcrpe.767

Cited by 4 publications

(2 citation statements)

References 6 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…However there have been few reports on the coexistence of 47, XXX and CAH, except Slim K in 2004 [17] reported a triple X syndrome patient with 11β-hydroxylase deficiency and it was the first case of CAH with triple X syndrome. On the contrary, extensive literature on the coexistence of CAH and Turner syndrome have been reported, [18][19][20][21][22][23][24][25][26][27] especially Lirriza D [28] have found in Turner Syndrome (TS) patients, the frequency of 21-OHD was extremely higher (21.6%) than that of the general Italian population, which implies patients with Turner syndrome are somehow likely to combine with 21-OHD. As a result, this kind of coexistence has made it difficult for doctors to make a proper diagnosis for they often share similar characteristics, so all the CAH patient are recommended to undergo chromosome inspection regularly.…”

Section: Discussionmentioning

confidence: 99%

Rare combination of simple virilizing form of 21-hydroxylase deficiency, Graves’ disease and 47, XXX in a woman: A case report

Han

Ren

et al. 2022

Medicine

View full text Add to dashboard Cite

Rationale: Coexistence of congenital adrenal hyperplasia due to 21-hydroxylase deficiency, Graves' disease and 47, XXX is rare. We report a case of a 25-year-old woman presented with masculine appearance, hirsutism and enlarged clitoris. Lab tests showed elevated serum 17 hydroxyprogesterone, testosterone, dehydroepiandrosterone. Gene test revealed heterozygous gene mutation in CYP21A2:NM_000500:exon4:c.518 T > A, NM_000500:exon8:c.C1024T. Karyotype analysis showed 47, XXX. After prednisone replacement and antithyroid therapy, she got a normal menstruation and normal level of testosterone. These findings demonstrate that patients with abnormal chromosome are likely to combine 21-hydroxylase deficiency (21-OHD), thus karyotyping test should not be neglected for those who have been already diagnosed as 21-OHD. Additionally, chromosomal abnormality such as 47, XXX and Turner syndrome had susceptibility to develop autoimmune thyroid disease because a gene on X chromosome may be responsible for the occurrence of autoimmune thyroid disease. Moreover, both 21-OHD and Graves' disease (GD) can lead to high level of testosterone, thus we should keep in mind to test chromosome and thyroid function in 21-OHD patients to avoid misdiagnose or missed diagnosis. To the best of our knowledge, this is the first report of simple virilizing (SV) 21-OHD patient combined with 47, XXX and Graves disease.Patient concerns: A 24-years-old female of Han ethnicity was admitted to the endocrinology department complaining of absence of menses for half a year. The patient didn't noticed her enlarged clitoris until she was 17 years old. Her menarche was 16 years old and the final height was 163 centimeter. She was diagnosed with GD 2 months before admission to our hospital due to palpitation, heat intolerance, muscle weakness. Diagnoses:The patient was diagnosed with SV 21-OHD, Graves disease and 47, XXX.Interventions: At first, the patient was given 10 mg methimazole twice a day as well as 5 mg predisone in the morning and 2.5 mg in the evening. After a year of regular medication and reexamination, she got a regular menstruation and thyroid function and now is taking 2.5 mg prednisone twice a day.Outcomes: The patient got a regular menstruation and thyroid function. Laboratory results showed: testosterone declined to 0.1nmol/L (0.1-1.67nmol/L) and 17 hydroxyprogesterone get back to normal level: 1.01ng/ml (0.30-2.34ng/mL). However, her enlarged clitoris has not narrowed.Lessons: Patients with abnormal chromosome are likely to combine 21-OHD, thus karyotyping test should not be neglected for those who have been already diagnosed as 21-OHD. Additionally, chromosomal abnormality such as 47, XXX and Turner syndrome had susceptibility to develop autoimmune thyroid disease because a gene on X chromosome may be responsible for the occurrence of autoimmune thyroid disease. Moreover, both 21-OHD and GD can lead to high level of testosterone, thus we should keep in mind to test chromosome and thyroid function in 21-OHD patients to avoid misdiagnose or m...

show abstract

Section: Discussionmentioning

confidence: 99%

Rare combination of simple virilizing form of 21-hydroxylase deficiency, Graves’ disease and 47, XXX in a woman: A case report

Han

Ren

et al. 2022

Medicine

View full text Add to dashboard Cite

show abstract

“…In addition, patients with 45XO/47XXX may not develop mental or behavioral problems and have a higher fertility rate ( 4 ). A previous study reported a case of congenital adrenal hyperplasia associated with Turner syndrome ( 5 ).…”

Section: Introductionmentioning

confidence: 99%

Concurrent insulinoma with mosaic Turner syndrome: A case report

Wang

Yang

et al. 2015

Experimental and Therapeutic Medicine

View full text Add to dashboard Cite

Turner syndrome is a chromosomal abnormality in which the majority of patients have a 45XO karyotype, while a small number have a 45XO/47XXX karyotype. Congenital adrenal hyperplasia has been previously reported in patients with Turner syndrome. Although insulinomas are the most common type of functioning pancreatic neuroendocrine tumor and have been reported in patients with multiple endocrine neoplasias, the tumors have not been reported in patients with mosaic Turner syndrome. The present study reports the first case of an insulinoma in a patient with 45XO/47XXX mosaic Turner syndrome. The patient suffered from recurrent hypoglycemia, which was relieved following ingestion of glucose or food. A 5-h glucose tolerance test was performed and the levels of glucose, C-Peptide and insulin were detected. In addition, computed tomography (CT) and ultrasound scanning were performed to evaluate the possibility of an insulinoma. Pathological examination and karyotyping were performed on a surgical specimen and a whole blood sample, respectively. The patient was found to suffer from premature ovarian failure, and a physical examination was consistent with a diagnosis of Turner syndrome. An ultrasound scan demonstrated streak ovaries and the patient was found to have a 45XO/47XXX karyotype. Furthermore, a lesion was detected in the pancreas following CT scanning, which was identified as an insulinoma following surgical removal and histological examination. In conclusion, the present study reports the first case of an insulinoma in a patient with mosaic Turner syndrome. Since mosaic Turner syndrome and insulinoma are rare diseases, an association may exist that has not been previously identified.

show abstract

Turner syndrome with positive SRY gene and non-classical congenital adrenal hyperplasia: A case report

Zhao

et al. 2021

WJCC

View full text Add to dashboard Cite

BACKGROUND Co-morbidity of SRY gene turner syndrome (TS) with positive SRY gene and non-classical congenital adrenal hyperplasia (NCAH) is extremely rare and has never been reported to date. CASE SUMMARY In this article, we present a 14-year-old girl who was referred to our hospital with short stature (weight of 43 kg and height of 143 cm, < -2 SD) with no secondary sexual characteristics (labia minora dysplasia). Laboratory tests indicated hypergonadotropic hypogonadism with significantly increased androstenedione and 17-hydroxyprogesterone (17-OHP) levels. This was accompanied by the thickening of the extremity of the left adrenal medial limb. The patient’s karyotype was 45,X/46,X, +mar, and cytogenetic analysis using multiplex ligation-dependent probe amplification and high-throughput sequencing indicated that the SRY gene was positive with compound heterozygous mutations in CYP21A2 as the causative gene for congenital adrenal hyperplasia. The sites of the suspected candidate mutations were amplified and verified using Sanger sequencing. The patient was finally diagnosed as having SRY positive TS with NCAH. The patient and her family initially refused medical treatment. At her most recent follow-up visit (age = 15 years old), the patient presented facial hair, height increase to 148 cm, and weight of 52 kg, while androstenedione and 17-OHP levels remained high. The patient was finally willing to take small doses of hydrocortisone (10 mg/d). CONCLUSION In conclusion, upon evaluation of the patient mentioned in the report, we feel that 17-OHP measurement and cytogenetic analysis are necessary for TS patients even in the absence of significant virilization signs. This will play a significant role in guiding diagnosis and treatment.

show abstract

A Rare Combination: Congenital Adrenal Hyperplasia Due To 21 Hydroxylase Deficiency and Turner Syndrome

Cited by 4 publications

References 6 publications

Rare combination of simple virilizing form of 21-hydroxylase deficiency, Graves’ disease and 47, XXX in a woman: A case report

Rare combination of simple virilizing form of 21-hydroxylase deficiency, Graves’ disease and 47, XXX in a woman: A case report

Concurrent insulinoma with mosaic Turner syndrome: A case report

Turner syndrome with positive SRY gene and non-classical congenital adrenal hyperplasia: A case report

Contact Info

Product

Resources

About