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Background
We report here a case study of 17α-hydroxylase deficiency in a phenotypic girl with male karyotype (46,XY). We also review the relevant literature to deepen our understanding of the disease, reduce the rate of missed diagnosis, and emphasize that holistic management of this disease requires collaborative multidisciplinary teamwork.
Case...
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Citations
... 8 The internal genitalia are hypoplastic testes, and the external genitalia are female or ambiguous owing to the absence of androgen. 9 The social gender is almost always female. 10 Diagnosis is typically made by puberty, with cases presenting hypertension, hypokalemia, abnormal external genitalia, and amenorrhea. 11 Disorders causing XY females include 46, XY GD (pure XYGD), 45,X/46,XY mixed gonadal dysgenesis (mixed GD), CAIS, PAIS, and 17OHD. ...
Introduction
17α‐Hydroxylase deficiency is a very rare disease reported to be associated with a risk of gonadal malignancy. We herein report a rare case of seminoma in a 46, XY patient with 17α‐hydroxylase deficiency.
Case presentation
A 52‐year‐old woman presented with a 9‐cm pelvic tumor. At age 14, she had been identified as having the XY karyotype and 17α‐hydroxylase deficiency. However, she was not informed and did not consult the urology department. Laparoscopic gonadectomy was performed at the latest consultation, and seminoma was diagnosed.
Conclusion
This is the third reported case of testicular tumor and the first of germ cell tumor in a 46, XY patient with 17α‐hydroxylase deficiency. Given the rarity and the risk of gonadal malignancy associated with 17α‐hydroxylase deficiency, the involvement of multidisciplinary specialists and prophylactic gonadectomy is considered crucial in its management.
... For those opting for a female identity, early laparoscopic gonadectomy is recommended, while testosterone supplementation and genital reconstruction surgery are advised for those choosing a male identity [17,35]. For patients with a chromosome karyotype of 46, XY, diligent screening for underdeveloped cryptorchidism is essential, with timely post-puberty removal to prevent malignant transformation [36]. ...
... The main clinical determinants of this disorder are as follows: hypertension, hypokalemia, and disorders of sex development (DSD). 1 Herein, we report the intriguing case of a 42-year-old woman presenting with grade three hypertension, severe hypokalemia, and primary amenorrhea, which revealed to be the complete form of 17 alpha-hydroxylase deficiency (17 OHD). We also discuss the challenging therapeutic approach as well as the outcomes and the follow-up of this patient. ...
Herein we report the intriguing case of a 42‐year‐old woman presenting with grade three hypertension, severe hypokalemia and primary amenorrhea, which revealed to be the complete form of 17 alphahydroxylase deficiency. We also discuss the challenging therapeutic approach as well as the outcomes and the follow‐up of this patient. One should consider the diagnosis of 17 alpha hydroxylase as the etiology of hypertension, hypokalemia, and adrenal insufficiency regardless of the age of patients. Biochemical findings can be atypical with slightly elevated ACTH and normal aldosterone level. The management of this condition is challenging and should be multidisciplinary.
... These enzymes are expressed mainly in the gonads and in the adrenal glands, and play a pivotal role in the biosynthesis of aldosterone, cortisol and sex steroids. The genetic defects of this gene result in a rare form of congenital adrenal hyperplasia (CAH).The main clinical determinants of this disorder are: hypertension, hypokalemia and disorders of sex development (DSD) [1]. Herein we report the intriguing case of a 42-year-old woman presenting with grade three hypertension, severe hypokalemia and primary amenorrhea, which revealed to be the complete form of 17 alpha-hydroxylase deficiency (17 OHD). ...
Herein we report the intriguing case of a 42-year-old woman presenting with grade three hypertension, severe hypokalemia and primary amenorrhea, which revealed to be the complete form of 17 alpha-hydroxylase deficiency. We also discuss the challenging therapeutic approach as well as the outcomes and the follow-up of this patient.
... 10 Another differential diagnosis is a 46, XY female with 17α-hydroxylase deficiency which is due to adrenal steroid synthesis disorder, these patients are hypertensive and hypokalemic, but there is no uterus. 11 Despite gonadoblastoma being the most common malignancy in Swyer syndrome, tumor development in our patient was dysgerminoma. ...
Swyer syndrome is a 46, XY karyotype, with pure gonadal dysgenesis and primary amenorrhea. These females have primordial Mullerian structures and seek medical attention as they experience primary amenorrhea. Here, we report a 15‐year‐old girl, diagnosed as Swyer syndrome associated with left ovarian dysgerminoma. Primary amenorrhea as one of the outcomes of Swyer syndrome caused by chromosomal abnormalities can be a warning sign for gonadal malignancies.
... Más de 100 mutaciones en el gen CYP17A1 se han descrito, las cuales incluyen mutaciones de cambio de sentido, deleciones, inserciones y variantes en los sitios de splicing (10)(11)(12)(13)(14)(15). Reportamos por primera vez en el mundo la mutación de cambio de sentido erróneo, c.1250T>C; p.Phe417Ser, en el gen CYP17A1, relacionada con la HAC. ...
Introduction: a defect in the CYP17A1 gene causes 17-Hydroxylase/17,20-lyase deficiency. It encodes an enzyme that expresses both 17-hydroxylase and 17,20-lyase activity in the adrenal glands and gonads. The phenotype of this condition is characteristic but may be shared by other enzyme defects. Therefore, the adequate genotype-phenotype relationship is essential for the correct diagnosis, to focus the treatment and the counseling of patients.
Case objective: To report for the first time a genetic variant potentially related to congenital adrenal hyperplasia in a patient with a phenotype compatible with a deficiency of 17-hydroxylase and 17,20-lyase.
Case presentation: We present the case of a woman who consulted for sexual infantilism and primary amenorrhea in the presence of a 46XX karyotype. She developed hypertension and hypokalemia, which led to the diagnostic suspicion of congenital adrenal hyperplasia (CAH). A genetic study revealed a homozygous missense mutation in exon 8, c.1250 T>C; p. Phe417Ser of the CYP17A1 gene. Mutations in this location have previously been shown to suppress 17?-hydroxylase and 17,20-lyase activities, which could explain the observed phenotype. We report the missense mutation, c.1250 T>C; p. Phe417Ser, for the first time in the CYP17A1 gene related to HAC.
Conclusion: Genetic analyses in all patients with HAC are necessary to define the frequency of this and other mutations in the Colombian population and relate the disease's phenotype with its genotype.
Aldosterone is a hormone with a dual effect on the kidneys. On the one hand, it is part of a regulatory system for maintaining the sodium (= volume) balance; on the other hand, it is jointly responsible for the stability of the potassium balance and the acid–base balance. Disorders of the aldosterone system are therefore characterized by reduced or increased S‑potassium levels and hypo- or hypertension. Aldosterone acts at the so-called aldosterone-sensitive section of the distal tubule of the nephron, where it activates various ion transporters that promote sodium reabsorption and potassium secretion. What is more difficult to understand is that increased aldosterone activity does not always lead to hypokalemia (aldosterone paradox) and that disturbances of (aldosterone-dependent) ion transporters in the distal tubule of the kidney lead to seemingly paradoxical situations in which the extent of aldosterone secretion in the adrenal gland does not match the expected aldosterone effect (pseudo-hypo-/hyperaldosteronism). This can be due to rare monogenetic diseases, but also to acquired causes. The main interactions between aldosterone and the distal tubule section of the kidney are explained using three case studies.
Background:
17α-Hydroxylase deficiency (17-OHD) is a rare form of congenital adrenal hyperplasia, characterized by hypertension, hypokalemia, and gonadal dysplasia. However, due to the lack of a comprehensive understanding of this disease, it is prone to misdiagnosis and missed diagnosis, and there is no complete cure.
Case summary:
We report a female patient with 17-OHD. The patient was admitted to the Department of Neurology of our hospital due to limb weakness. During treatment, it was found that the patient's condition was difficult to correct except for hypokalemia, and her blood pressure was difficult to control with various antihypertensive drugs. She was then transferred to our department for further treatment. On physical examination, the patient's gonadal development was found to be abnormal, and chromosome analysis demonstrated karyotype 46,XY. Considering the possibility of 17-OHD, the cytochrome P450 family 17 subfamily A member 1 (CYP17A1) test was performed to confirm the diagnosis.
Conclusion:
The clinical manifestations of 17-OHD are complex. Hormone determination, imaging examination, chromosome determination and CYP17A1 gene test are helpful for early diagnosis.
