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

BACKGROUND Co-morbidity of SRY gene turner syndrome(TS)with positive SRY gene and nonclassical 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).CONCLUSIONIn conclusion, upon evaluation of the patient mentioned in the report, we feel that17-OHP measurement and cytogenetic analysis are necessary for TS patients evenin the absence of significant virilization signs. This will play a significant role inguiding diagnosis and treatment.

Congenital lipoid adrenal hyperplasia with Graves'disease:A case report

BACKGROUND Congenital adrenal hyperplasia(CAH),which is caused by a mutation of the steroidogenic acute regulatory(StAR)gene.Affected patients are usually characterized by adrenal insufficiency in the first year of life,salt loss,glucocorticoid and mineralocorticoid deficiency,and female external genitalia,regardless of chromosomal karyotype.Patients with non-classical lipoid CAH usually develop glucocorticoid deficiency and mild mineralocorticoid deficiency at 2-4 years of age.CASE SUMMARY Herein,We report the case of a woman with non-classic lipoid CAH combined with Graves’disease.Her chromosome karyotype was 46,XX,and highthroughput sequencing revealed two missense variants in the StAR gene:c.229C>T(p.Q77X)and c.814C>T(p.R272C),which were inherited from both parents(non-close relatives).The patient was treated for Graves’disease in a timely manner and the dosage of glucocorticoid was adjusted during the treatment of Graves’disease.CONCLUSION This is the first case of non-classic lipoid CAH combined with Graves’disease reported in the Chinese population.In addition to conventional glucocorticoid replacement therapy,timely adjustments were made to the dosages of thyroid hormone and glucocorticoid to avoid adrenal crisis as a consequence of the increased demand and accelerated metabolism of glucocorticoids when the patient was diagnosed with Graves’disease.

Adrenomedullary Function in Cohort of Brazilian Pediatric Patients with Classic Congenital Adrenal Hyperplasia

Congenital Adrenal Hyperplasia is a group of autosomal recessive disorders resulting from deficiency of enzymes essential for the synthesis of cortisol.Disease of the adrenal cortex,but there may be involvement adrenomedullary.Cortisol and epinephrine are directly related to the individual’s stress response.Lower values of epinephrine in children with congenital adrenal hyperplasia could be related to increased clinical complications and hospitalizations rate.We evaluated the serum values of metanephrines and normetanephrines in children and adolescents with classic congenital adrenal hyperplasia and primary hypothyroidism and possible correlations with disease and hospitalizations.Cross-sectional study involved 29 patients(10 simple virilizing and 19 salt-wasting),and control group of 28 patients with primary hypothyroidism(10 overt and 18 subclinical).There were no differences in age(p=0.24)and metanephrine(p=0.34)or normetanephrine values(p=0.85)between groups.Hospitalization rate was higher in the cases than in the controls(51 x 12).We conclude the serum values of metanephrine and normetanephrine in patients with congenital adrenal hyperplasia were within the normal values of reference,with no significant difference of group with primary hypothiroidism.The number of hospitalizations in the case was high in relation to the control,mainly in salt-wasting.

Congenital Adrenal Hyperplasia: Diagnostic Features in a Limited Resource Country, Senegal

Introduction:?Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive diseases characterized by enzymatic deficiencies in the biosynthesis of adrenal steroids. The most common 21-hydroxylase deficiency is characterized by a cortisol deficiency and an excess of androgens, with or without aldosterone deficiency. In our countries, in the absence of neonatal screening, the diagnosis is most often late leading to life-threatening complications. The aim of this study was to describe the diagnostic features of CAH at the Albert Royer National Children’s Hospital (ARNCH) in Dakar.?Patients and method:?We conducted a retrospective, descriptive study carried out at the pediatric endocrinology department of ARNCH from 2015 to 2019. All children aged under 15 with a form of CAH were included. Socio-demographic data, family history, clinical and biochemical data at presentation were collected. Patients were noted as presenting with Disorder of Sexual Development (DSD) with dehydration, DSD without dehydration, dehydration without DSD, precocious puberty. The Prader’s scale was used to determine the degree of external virilization. These data were entered and analyzed with Epi Info version 7.2.?Results:?A total of 32 patients were included, representing 74.41% of the causes of disorder of sexual development (DSD) and 84.21% of the causes of adrenal insufficiency. These were 27 girls (84.37%) and 5 boys (15.63%). The mean age was 19 ± 34.6 months. DSD was the main finding (87.5%). It was associated with dehydration in 22 cases (68.75%). 21-hydroxylase deficiency represented 93.75% of the cases with salt wasting in 73.33% of the cases.?Conclusion:?The diagnosis of CAH was delayed leading to life-threatening adrenal crises. In the absence of neonatal screening for CAH in Senegal, there is a need to train healthcare workers to recognize neonates with DSD early and refer them timeously for specialist care.

Bilateral Macronodular Adrenal Hyperplasia

Cushing’s syndrome is the set of clinical manifestations secondary to a chronic excess of glucocorticoids. Bilateral macronodular adrenal hyperplasia with subclinical cortisol secretion is the most common, but its prevalence remains unknown. We describe a case of bilateral macronodular adrenal hyperplasia. This is a 36-year-old female patient who had been consulting for secondary amenorrhea and developing asthenia for 4 months. The clinical examination noted an overweight patient with high blood pressure, facio-trunk obesity, hirsutism and purple stretch marks in the abdomen and thighs. Biologically, hypokalemia at 2.9 meq/l (3.5 - 5.4), normal calcemia at 90 mg/l (85 - 104), fasting blood sugar was 0.84 g/l (0.7 - 1), the tests for minute, low and high dexamethasone suppression test revealed insufficient suppression of cortisol. The cortisoluria collected from the second day to the third day of the high dexamethasone suppression test was at 186 μg/24 h (<60), the ACTH (Pg/ml) was undetectable (6.4 - 49.8). The diagnosis of an independent adrenocorticotrophin (ACTH) Cushing syndrome was made and the adrenal CT scan revealed bilateral macronodular hyperplasia. A bilateral adrenalectomy was performed and a complete remission of Cushing syndrome was achieved. We prescribed to her, hydrocortisone 20 mg/day and alpha-fludrocortisone 25 to 50 μg/day, This medical observation showed that macro-nodular adrenal hyperplasia with overt Cushing syndrome can occur in the third decade of life. Bilateral adrenalectomy has resulted in a complete cure for Cushing’s syndrome, but may be fraught with complications.

A STUDY OF POINT MUTATION IN STEROID21-HYDROXYLASE GENE IN CHINESE CHILDREN WITHCONGENITAL ADRENAL HYPERPLASIA

Objective To study Chinese children with congenital adrenal hyperplasia (CAH) in the types ofpoint mutation in steroid 21 - hydroxylase gene (CYP21). Methods By using PCR-ASO hybridization analysiswith amplified segments involving exon 3-4 and exon 6-8 of the gene to investigate for the type ofmutations. Results The results showed among 5 point mutations detected positive findings being in 28/66 (42%)of CAH chromosomes, or 17/33 (52%) of the CAH cases examined. The only 1 non - classic form CAH case wasfound as homonsous for val - 281→len mutation. Three classic cases were heterozygous for compound mutations asnitron 2 A, C→G associated with lie-172→Asn or lie - 172→Asn with Gin-318→stop. The other point mutationsall revealed as homozygous alleies with the most freguent matations as nitron 2A, C→G. No PCR product wereprovided by 3 cases who had been verilied by Southern blotting with CYP21 B gene deletion (not shown). NO pointmutations were illustrated in normal controls. Conclusion This report presentS data in 17/33 (52K) of Chinesechildren with CAH in CYP 21 B gene had point mutations documenting the type and location of mutation indiagnosis of CAH.

Novel StAR Gene Mutation Identified in a Moroccan Patient with Lipoid Congenital Adrenal Hyperplasia

Congenital Adrenal Hyperplasia(CAH)is an autosomal recessive condition that results from the deficiency of one of the steroidogenesis enzymes responsible for cortisol biosynthesis.In the majority of cases,CAH is caused by 21-hydroxylase deficiency.More rarely,the deficiency concerns 11b-hydroxylase,3b-hydroxysteroid dehydrogenase,17hydroxylase,or exceptionally StAR and P450 oxydoreductase.Here,we report the case of a 3 year and 4 months old male child,born from a consanguineous marriage who presented at 15 months old with the salt-loss syndrome.Physical examination found generalized melanoderma,micropenis and bilateral cryptorchidism.Biological assessment at the time of diagnosis revealed hyponatremia,hyperkalemia,functional renal failure,hypoglycemia,low blood cortisol level,and high blood level of ACTH,suggesting primary adrenal insufficiency.The patient presented also with the abnormality of sexual differentiation with a 46 XY karyotype,testosteronemia level was low at the baseline and after HCG stimulation,pelvic ultrasound and Magnetic Raisonance Imaging(MRI)showed bilateral testicular atrophy in the inguinal position.The genetic study revealed a likely pathogenic homozygous variant in the StAR(steroidogenic acute regulatory)gene.Therapeutically,our patient was hydrated by saline solution and treated with hydrocortisone and fludrocortisone,then benefited from a surgical testicular correction marked by a favorable evolution.Although mutations in StAR gene are rare,they can be responsible for the defect in the early stage of steroidogenesis and therefore cause a deficiency in adrenal and sexual hormones biosynthesis.

Height outcome of patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Objective:To retrospectively investigate the height outcome of patients with congenital adrenal hyperplasia(CAH)due to 21-hydroxylase deficiency(21-OHD).Methods:The 135 CAH patients with 21-OHD diagnosed in our hospital from Jan 1980 to Oct 2006 were retrospectively analyzed.The investigated parameters included final height(FH),FH standard deviation score(FH SDS),target height SDS(TH SDS),difference between TH and FH(TH-FH),FH SDS-TH SDS,the age of onset of sexual development,and the difference between bone age and chronological age(BA-CA)when patients got the FH.Results:Among the 135 patients,female/male=108/27.Mean FH was(156.8±5.4)cm(n=14)and(150.8±6.8)cm(n=76)for males and females,respectively.Mean FH SDS was(-0.6±0.8)(n=13)and(0.2±1.2)(n=54)for males and females,respectively.Sexual development began at(5.2±1.7)years old(y/o)(n=13)and(7.9±3.2)y/o(n=43)in males and females,respectively.Conclusions:The FH of CAH patients with 21-OHD was lower than that of the normal range.Effect of the disease on the height growth in male patients was more severe than that in females.All patients began sexual development much earlier than the normal age-matched group.Male patients began their sexual development even earlier.

Non-invasive prenatal molecular detection of a fetal point mutation for congenital adrenal hyperplasia using co-amplification at lower denaturation temperature PCR

Conventional prenatal diagnosis relies on invasive chorionic biopsy or amniocentesis, which increases the risk of miscarriage, and is undertaken at 11-20 weeks gestation.1 The discovery of cell-free fetal DNA in maternal plasma has, however, offered a new strategy for non-invasive prenatal diagnosis.2 Cell-free fetal DNA in maternal plasma has been used for the determination of fetal gender3 and RHD status4 as well as testing certain monogenic diseases such as 13-thalassemia5 and cystic fibrosis.6 However,

Adrenal Cortical and Medullar Hyperplasia-A Retrospective Analysis of6Cases

The features of the symptom s,laboratory tests and pathological characteristics of a- drenal cortical and m edullary hyperplasia were studied. In 6 cases of hypercatecholaminenia,plas- ma norepinephrine(NE) ,epinephrine(E) ,catecholam ine(CA) and2 4 - h urinary vanillylmandelic acid(VMA) ,17- hydroxycorticosteroid (OHCS) and 17- ketosteroid (KS) were determ ined.A- drenal glands were exam ined by CT scan and 1 31 I- MIBG imaging.Pathological examination was performed after operation.The results showed that in 6 cases of hypercatecholaminenia(3m en and 3women) aged from 34- 5 0 years,the clinical features were just like“pheochromocytoma”, for example,episodic headache,perspiration,palpitation,pallor,apprehension,nausea,tremor, anxiety and so on. Plasma levels of CA,NE and E were elevated in all 6 cases. 2 4 - h urinary sam - ples obtained atthe onsetrevealed elevated VMA in1case. 2 4 - h urinary cortisol was obviously el- evated in all6 cases. 2 4 - h urinary17- OHCS,17- KS was norm al.B- type ultrasound,CT,MRI and1 31 I- MIBG revealed9lateral adrenal gland diffuse or nodular enlargem entin6 cases.Patholog- ic exam ination showed adrenal cortical and medullary hyperplasia.Clinically,adrenal cortical and m edullary hyperplasia resembled“pheochromocytom a”. The m ost significant feature of this dis- ease was both elevated plasma CA and 2 4 - h urinary cortisol obviously. Pathologic exam ination showed adrenal cortex nodular hyperplasia and medullar diffuse or lim it hyperplasia. Whether it is an independent disease or symptoms of the other disease has not final conclusion up till now

Pregnancy in a woman with congenital adrenal hyperplasia:A case report and literature review

Dear editor:Congenital adrenocortical hyperplasia(CAH)is an autosomal reces-sive disease resulting from a deficiency in the cortisol synthase gene.This deficiency leads to an imbalance in adrenocortical hormones and excess androgen.21 Hydroxylase deficiency(21-OHD)is the most common form of CAH,accounting for 90%~95%of cases.1 This condition is pri-marily caused by a mutation in the CYP21A2 gene,located on chromo-some 6p21.3.2 Depending on the severity of aldosterone deficiency,CAH can be divided into classical(salt-wasting and simple-virilizing forms)and non-classical(NCCAH)types.Excess androgen,the most common factor in classical CAH and NCCAH,can negatively impact fertility in CAH patients.The spontaneous rate of pregnancy without treatment is typically very low in CAH patients.

Coexistence of the Hypersecretion of Catecholamine,Adrenal Cortical Nodular Hyperplasia,and Nephrotic-Range Proteinuria of Focal Segmental Scleronephrosis:Is It Fat-Induced Hypertension?

Two patients had a long history of hypertension and one of them also had a nephrotic-range proteinuria secondary to focal segmental scleronephrosis which had been diagnosed by kidney biopsy. They presented with uncontrolled hypertension. Laboratory examination suggested hypersecretion of catecholamines by the left adrenal glands in both patients and primary aldosteronism in one of them. A computed tomography scan revealed small nodules on left adrenal gland in both patients. Patients underwent laparoscopic left adrenalectomy. After surgery, blood pressure was normalized and proteinuria was resolved. Most interestingly, prominent adipocytes infiltrated were detected in the adrenal cortex and were associated with the presence of lymphocytes, which suggested that adipocytes might have a role in the pathogenesis of these diseases in our patients.

The Diagnosis and Treatment of Virilizing and Fem- inizing Adrenal Syndrome

Objective: To inquire into diagnosis, and treatment of virilizing andfeminizing a-drenal syndrome, differential diagnosis between benign and malignant sex hormoneproducing adrenal neo-plasma and, treatment principles of congenital adrenal hyperplasia (CAH).Methods: Eight cases of CAH and 5 cases of sex hormone producing adrenal neoplasma were admitted tohospital during 1986-1996. The former included 3 rare cases of 17 a hydroxylase deficiency. Thelatter included 3 cases of feminizing adrenal tumor and 2 cases of virilizing adrenal tumor.Results: Weight, size and CT of the tumor, DHEA, 17 -ks, sex hormone levels, infiltration, andmetastasis were closely related to the degree of differentiation of the tumors. Conclusion:Virilizing and feminizing adrenal neoplasm were removed surgically by different incisions. Modifiedsubcostal incision was recommended as the best choice for huge adrenal mass. Corticoadrenal hormonetreatment fa CAH should be individualized according to the different types of the disease. Sexhormones were not suitable for children suffering from 17 hydroxylase deficiency before puberty.

CYP17A1基因突变致先天性肾上腺皮质增生症一例报道并文献复习

17α-羟化酶缺乏症(17-OHD)是先天性肾上腺皮质增生症(CAH)中的一种罕见类型,约占CAH的1%,其患病率为1∶50000。本文报道了1例疑似17-OHD患者,通过外显子测序鉴定了1个类固醇生成酶基因CYP17A1的基因突变,结合临床表现、体格检查、肾上腺和性腺功能检查等,最终将其明确诊断为CAH并给予规范治疗。故结合该病例,本文回顾总结了17-OHD的鉴别和诊断,以期提高临床对该病的认识,促进临床对17-OHD的规范诊治,为17-OHD的诊断和治疗提供更多的参考资料。

Imaging presentation of adrenal glands in female pseudohermaphroditism

Objective: To discuss imaging features of the adrenal glands in female pseudo-hermaphroditism. Methods: 11 cases of female pseudohermaphroditism (8-27 years old) were analyzed retrospectively. Results: In 9 of the 11 patients with female pseudohermaphroditism who did no receive hormone replacement therapy, both internal and external branches of bilateral adrenal glands were found to be thickened, prolonged and twisted, and in 2 of the 9 patients they were found to be macronodularly hyperplasic. In one of the remaining two patients who had received long-term hormone replacement therapy, the adrenal glands were not thickened or twisted, though prolonged; and in the other patient imaging presentation of the adrenal glands was the same as that of those who did not receive hormone replacement therapy, but with co-existence of adrenal myelolipoma. Among the 11 patients agenesis of the uterus and the vagina was found in 4 cases. Conclusion: Female pseudohermaphroditism is a hereditary disease, where hyperplasia of the adrenal glands and agenesis of the uterus and the vagina were secondary. Early detection of these abnormalities by imageology would prove to be helpful in early detection and treatment of the condition.

Primary aldosteronism due to bilateral micronodular hyperplasia and concomitant subclinical Cushing’s syndrome:A case report

BACKGROUND Adrenal incidentaloma(AI)has been frequently encountered in the clinical setting.It has been shown that primary aldosteronism(PA)or subclinical Cushing’s syndrome(SCS)are the representative causative diseases of AI.However,the coexistence of PA and SCS has been reportedly observed.Recently,we encountered a case of AI,in which PA and SCS coexisted,confirmed by histopathological examinations after a laparoscopic adrenalectomy.We believe that there were some clinical implications in the diagnosis of the present case.CASE SUMMARY A 58-year-old man presented with lower right abdominal pain with a blood pressure of 170/100 mmHg.A subsequent computed tomography scan revealed right ureterolithiasis,which was the cause of right abdominal pain,and right AI measuring 22 mm×25 mm.After the disappearance of right abdominal pain,subsequent endocrinological examinations were performed.Aldosterone-related evaluations,including adrenal venous sampling,revealed the presence of bilateral PA.In addition,several cortisol-related evaluations showed the presence of SCS on the right adrenal adenoma.A laparoscopic right adrenalectomy was then performed.The histopathological examination of the resected right adrenal revealed the presence of a cortisol-producing adenoma,while CYP11B2 immunoreactivity was absent in this adenoma.However,in the adjacent nonneoplastic adrenal,multiple CYP11B2-positive adrenocortical micronodules were detected,showing the presence of aldosterone-producing adrenocortical micronodules.CONCLUSION Careful clinical and pathological examination should be performed when a patient harboring AI presents with concomitant SCS and PA.

以高孕酮血症为表现的不完全型17α-羟化酶缺乏症患者的临床特点

目的 分析以高孕酮血症为表现的不完全型17α-羟化酶缺乏症患者的临床特点,提高对该类疾病的临床认识和诊断治疗水平。方法 回顾分析医院2019年3月至2022年5月收治的8例以高孕酮血症为表现的不完全型17α-羟化酶缺乏症患者的临床表现、实验室检查、影像学表现及治疗效果。结果 8例17α-羟化酶缺乏症患者均为女性,年龄21~37岁,临床表现为原发不孕,7例患者平素月经规律,1例患者原发闭经,8例患者血压基本正常,无低钾血症。实验室检查结果显示孕酮高,7例患者经基因型检测获得明确诊断,6例高孕酮血症患者接受糖皮质激素治疗,并接受个体化促排卵方案,3例患者已获得良好妊娠结局。结论 不完全型17α-羟化酶缺乏症患者多以原发不孕、高孕酮血症为主要临床表现,应及时行基因检测明确诊断,早期治疗、及时给予糖皮质激素治疗辅助生殖可获得良好妊娠结局。

Diagnosis of CAH in a Sub Saharan Country: Visible Part of Iceberg

Introduction :Congenital adrenal hyperplasia (CAH) is the most common cause of primary adrenal insufficiency. It is a rare monogenic recessive disorder. In African setting in absence of neonatal screening, the diagnosis is still late, based on a clinical approach. During this clinical enquiry, information from past history or pedigree of the patient is of a huge importance and may revealed surprises. Patients and Methods: In this observational study, we retrospectively included all patients with a diagnosis of CAH. The diagnosis of CAH was retained based on a high 17 hydroxyprogesterone level in addition to clinical and morphological findings. From patients’ files, we extracted data on family history of disease, pedigree, clinical findings and genetics when available of 39 patients from two endocrinopeadiatric centers. Results: In 13 (30%) families, we found 20 reported deaths of infant less than 12 months. In these 13 families, half of the patients followed had 21 hydroxylase deficiencies and had 11 hydroxylase deficiencies. Unsurprisingly, we suspected adrenal insufficiency in these patients at verbal autopsy even in families with a patient with 11 hydroxylase deficiency. Other non DSD malformations or genetic disorders with apparently no link with CAH were reported in 3 families. The father of a patient reported to have hypospadias. Conclusion: Each diagnosis of CAH made in our context is visible part of an iceberg. Behind a diagnosis of CAH made in our setting, is a long course of care, a dramatic past history revealing access to appropriate care disparity. Neonatal screening should thus be considered as an emergency.

单中心11例先天性肾上腺皮质异常患儿的遗传学分析

目的探讨11个先天性肾上腺皮质异常患儿家系的遗传学特征。方法选择2019年1月至2023年6月确诊的11个先天性肾上腺皮质异常患儿家系作为研究对象。应用全外显子组测序对先证者进行基因变异检测,Sanger测序及MLPA技术进行家系验证。结果11个患儿家系经基因诊断。8例为因CYP 21 A 2变异引起的21-羟化酶缺陷导致的先天性肾上腺皮质增生症,1例为CYP 17 A 1变异引起的17-α羟化酶缺乏性先天性肾上腺皮质增生症,1例为STAR变异引起的脂质先天性肾上腺增生,1例为NR0B1变异引起的先天性肾上腺发育不全。CYP21A2基因共检测到7种不同的变异,这7种变异类型中频率最高的位点是c.518T>A,随后为c.293-13C>G与c.1069C>T。STAR检测到的c.780dupG与c.397C>T变异均为未报道的新变异,根据ACMG遗传变异分类标准与指南,c.780 dupG位点评级为致病性变异(PVS1+PM2_Supporting+PP4),c.397C>T位点评级为临床意义未明(PM2_Supporting+PM3+PP3+PP4)。NR0B1检测到的c.64_c.65insGAGCGCGAAGC变异为未报道的新变异,该变异评级为可能致病性变异(PVS1+PM2_Supporting+PP 4)。结论对临床表型重叠的肾上腺皮质异常患儿,单凭症状和生化指标无法进行可靠鉴别,而早期基因精准诊断对确诊疾病、干预治疗、遗传咨询及生育指导至关重要。

先天性肾上腺皮质增生症致单纯男性化女性假两性畸形一例

先天性肾上腺皮质增生症(CAH)是以肾上腺皮质类固醇激素生成受损为特征的常染色体隐性遗传性疾病。最常见的类型是单纯男性化女性假两性畸形,即具有男性化或发育模糊的外生殖器,但性腺仍为女性生殖腺且染色体核型为46,XX的女性个体,常常由于患者和家属认识不足、重视程度不够、医疗水平受限及不愿就诊的自卑心理导致治疗延误,甚至危及生命。本文回顾性分析了一例2023年5月26日就诊于山西医科大学第二医院的CAH致单纯男性化女性假两性畸形患者的病例资料,并结合相关文献探讨其发病机制及治疗方法,以期提高临床筛查率及人们的重视程度。