The patient, born in November 1976, was 33 years old, male of social gender, and was admitted to the hospital with “elevated blood pressure for 17 years with recurrent weakness for 10 years and periodic hematuria for half a year”. The patient was found to have elevated blood pressure of about 140/100 mmHg during a physical examination 17 years ago, and did not pay attention to it because there was no dizziness, headache, chest tightness, palpitations, etc. More than 10 years ago, he began to experience general weakness without any cause, and fell down when walking. 9 months ago, the patient suddenly felt weakness of the right limb at night in a quiet state and had difficulty in moving, which lasted for 30 minutes and then improved on its own, and no special attention was paid to it. 7 months ago, he again had sudden dizziness and weakness of the right limb in the same situation, which was worse than the previous one. The right upper limb was completely immobile and the fingers could not be straightened by flexion; the muscle strength of the right lower limb was reduced and he needed assistance to walk. Her blood pressure was measured at the local hospital at 174/129 mmHg, and MRI showed “foci of infarction in the left paraventricular body, multiple ischemic foci in the bilateral frontoparietal lobes, and arachnoid cyst in the left lateral fissure”. (P): 11.9 ng/ml, testosterone (T): 6.7 ng/ml were elevated, and estradiol (E2) and aldosterone were normal. CT of the adrenal glands showed “significant thickening of the right adrenal gland and left adrenal gland occupancy”. Further examination revealed that the patient’s external genitalia were apparently male, but there were no testes in the scrotum, short penis and hypospadias, chromosomal analysis suggested 46XX, 99Tc scan did not show testes, ultrasound examination found female internal genitalia in the patient’s pelvis, but the uterus was small and there were multiple small cysts in bilateral ovaries. A diagnosis of congenital adrenocortical hyperplasia (CAH) secondary to hypertension was made. The treatment regimen was given as cortisone acetate 25 mg at 8 am, 2Pm 12.5 mg at noon, amisulpride 60 mg/day, enalapril 10 mg/day, and baisinto 30 mg/day. After taking the medication, there was a bilateral breast bulge with sensation of distension and pain. 2 months ago, there was regular hematuria once a month without frequency, urgency, painful urination or difficulty in urination, which lasted 4-5 days and disappeared on its own. The patient’s parents were not consanguineous, the patient was born at term, normal weight and height at birth, but the gender of the external genitalia was ambiguous, the “penis” was short and the mucous membrane of the “glans” was flushed and moist. The height of children of the same age was 137cm at the age of 9, but did not continue to grow taller after that, and gradually lagged behind their peers in height. There was also a significant increase in hair all over the body, more obvious in the extremities, accompanied by skin mucous membrane pigmentation. In adulthood, the patient was engaged to a woman and had sexual intercourse, but the quality of sexual life was not high because the “penis” was short after erection. The patient had normal intelligence (moderate to high academic performance) and was prone to “colds” during early childhood. His mother had two pregnancies before the patient, but both died after birth. She has a younger brother who is in good health. Physical examination: height: 137cm, weight: 88kg, BMI: 22.9Kg/m2, upper volume: 77cm, lower volume: 60cm, arm span: 131.5cm. clear, good spirit, fluent speech, right foot limp. Pubic hair and axillary hair were dense, Ferriman-Gallway hair score was 27, and breast development was Tanner stage II. The heart rate was 60 beats/minute, rhythmical, with strong heart sounds, and grade II-III murmur could be heard in the apical part of the heart. Right upper extremity body muscle tone was increased, lead pipe like, muscle strength grade IV, left side muscle tone, muscle strength normal, right side fingers were curled up like, unable to straighten by themselves, bilateral biceps/periosteal reflex (++), Hoffmann sign (+), right lower extremity muscle tone was increased, knee reflex (++++), ankle reflex (++++), bin clonus (+), ankle clonus (+), muscle strength normal, left lower extremity muscle strength. normal muscle tone, knee reflex (++), suspicious positive Barr’s sign on the right side, Barr’s sign on the left side (+), Gordon’s sign, Oppenheim’s sign, Chadock’s sign, Romberg (-) on both sides. Bilateral dorsalis pedis artery pulsations were normal, physiological reflexes were present and pathological reflexes were not elicited. Male appearance of the vulva, short penis, urethral opening at the root of the penis, and absence of testes in the scrotum. Auxiliary tests: liver and kidney function, blood electrolytes, lipids, growth hormone, thyroid function, cortisol, plasma renin activity-angiotensin II-aldosterone, OGTT + insulin release were normal, adrenocorticotropic hormone (ACTH) 539.80 (normal value: 12.0~78.0 pg/ml), sex hormones: LH 3.79 (normal value in follicular phase: 2.6~26.5 mIU/ml), and FSH 4.19 (normal value in follicular phase: 3.4-21.6 mIU/ml), E2 25.00 (normal value in follicular phase: 35-169 pg/ml), P 2.20 (normal value in follicular phase: <0.1-0.3 ng/ml), prolactin (PRL) 28.81 (normal value: 1.2-29.9 ng/ml), T 0.19 (normal value: 0.1-0.8 ng/ml), 17-OHP 14.96 ( 0.40-1.02 ng/ml), sex hormone-binding globulin (SHBG) 22.60 (19.8-155.2 nmol/L), DHEA-S 8.70 (95.8-511.7 μg/dl). Gynecologic ultrasound: female reproductive organs were seen in the pelvis, endometrial thickness was 5 mm, 8 follicle-like anechoic areas were seen in the left ovary with a maximum diameter of 13 mm in a single section, and 10 follicle-like anechoic areas were seen in the right ovary with a diameter of 5-8 mm. breast ultrasound: male breast development. Pituitary MR scan: full pituitary morphology with multiple abnormal signal foci in the bilateral basal ganglia region. CT of adrenal glands: bilateral congenital hyperplasia of adrenal glands with left adrenal medullary lipoma and right adrenal adenoma. Radiology director Fang Wenqiang read the films: cranial MR scan + diffusion imaging readings: small patches of low T1W and low FLAIR signals were seen in bilateral basal ganglia areas, small scattered patchy abnormal signal foci were seen in bilateral basal ganglia areas, frontal lobe and parietal lobe, equal and slightly low signals in T1W were not obvious, high signals in FLAIR foci were not suppressed, and no significant signal increase was seen in DWI foci. No significant widening, enlargement or narrowing of the ventricles, brain pools or sulci was observed. There was no displacement of midline structures. No significant abnormal signal was seen in the paranasal sinus areas shown. The imaging diagnosis was: bilateral cerebral infarction in the basal ganglia region with scattered small ischemic foci in the bilateral basal ganglia region, frontal lobe and parietal lobe. CT reading of the adrenal gland: the left adrenal gland was thickened and irregular mixed density shadow was seen, negative fat density shadow, soft tissue density shadow and speckled calcification foci were seen, and the solid component of the right adrenal gland was thickened in nodular form, and the lateral branch of the right adrenal gland was round-like density foci with a diameter of about 1.09 cm, and the enhancement was more obvious on the enhanced scan. The imaging diagnosis was: congenital hyperplasia of both adrenal glands with left adrenal medullary lipoma and possible adenoma of the right adrenal gland. In combination with the patient's clinical manifestations and laboratory tests, the diagnosis of congenital adrenal cortical hyperplasia was clear. To further confirm the diagnosis, surgery or puncture biopsy can be performed. Dr. Sun Shuyue, attending physician: The patient's medical history, clinical manifestations, and ancillary examinations reveal the following characteristics: male gender, but female chromosomal gender, a female pseudohermaphroditism patient. He was raised as a boy because he had female internal genital organs and male external genital organs. He grew too fast in early childhood, and male sexual characteristics appeared early and abnormally, but he stopped growing in height before the age of 10, and his height was eventually shorter than normal. On the other hand, the patient had long-standing hypertension that started in adolescence and was tolerated long before treatment was delayed, resulting in stroke before the age of 40 years, as well as hypokalemia with normal aldosterone levels. Blood and urine F levels were only in the normal range relative to the excessively elevated ACTH, suggesting a relative lack of adrenocortical function, and we also observed elevated 17-OHP. There was hyperplasia of the adrenal cortex on imaging, and the diagnosis of congenital adrenocortical hyperplasia (CAH) was clear. With comprehensive reference to all indicators, the 11 beta hydroxylase deficiency type was considered, which was further confirmed by the genetic diagnosis. The endocrinologist at the local hospital also considered this rare disease and gave glucocorticoid replacement and antihypertensive drugs to control blood pressure, and chose to treat the patient with a higher dose of androstenedione in order to antagonize the effect of hyperandrogenism while antagonizing salt corticosteroids to lower blood pressure and raise blood potassium. The patient's blood pressure dropped, her blood potassium normalized, and her breasts increased in size with painful swelling. As a result, menstrual blood is discharged as if it were "hematuria" for several days, and with glucocorticoid replacement, the menstrual cycle is regular, resulting in periodic "hematuria". The problem is that despite the glucocorticoid-cortisone replacement, the patient's ACTH is still much higher than normal, and the patient's social gender is male and psychological gender is also male. Therefore, it is necessary to adjust the medication to solve the problem and give the patient more time to gradually accept the change as a psychological buffer period. Prof. Weiqing Wang: In CAH, 11-beta hydroxylase deficiency should be differentiated from primary aldosteronism, pheochromocytoma, Cushing's syndrome, adrenal tumors, other types of CAH such as 21-alpha hydroxylase deficiency, 17-alpha hydroxylase deficiency or 3-beta hydroxysteroid dehydrogenase hyperaldosteronism, adrenal tuberculosis, and adrenal lymphoma. Because cortisol deficiency in CAH is only a relative deficiency, treatment with a medium- to long-acting glucocorticoid such as dexamethasone should be used as supplemental therapy to suppress excessive ACTH secretion. For pediatric CAH patients who are minors, the application of dexamethasone has a stronger inhibitory effect on bone growth and development, so it is appropriate to use short-acting cortisone, which has a more similar molecular structure to cortisol, for treatment, but its inhibitory effect on ACTH is not as long-lasting and stable as that of dexamethasone. The patient no longer grows taller after the age of 9, and the epiphysis has already closed, suggesting that the bone has been set, and there is no effect of glucocorticoids on bone development, so the long-acting glucocorticoid dexamethasone can be used, with 0.75 mg as the starting dose, taken every night before bedtime. Due to the deficiency of 11-beta hydroxylase, the synthesis of aldosterone is insufficient and its precursor substance deoxycorticosterone (DOC) accumulates in large amounts, while DOC has a powerful effect of salt and glucocorticoids, which can replace aldosterone. Excess DOC can also cause hypertension and hypokalemia. In terms of pathogenesis, as long as appropriate glucocorticoid supplementation therapy is taken to inhibit the stimulation of the adrenal cortex by excessive ATCH secretion, DOC production will naturally be reduced and the problem will be solved at the root, while Ativan and others only reduce the role of hormones at the receptor level and do not reduce DOC production, which is inappropriate as the first choice of medication, Ativan also has the role of antagonizing androgens, which is used in larger doses by patients The patient has shown signs of breast development, which may be a good thing for women, but for the patient, it is not yet fully acceptable to change gender, or the patient has not yet decided on the future gender orientation, so it is recommended to discontinue Ativan. In the choice of antihypertensive drugs, ACEI and CCB class drugs are preferred to control blood pressure, and combined with anti-platelet aggregation drugs. Director of Urology Sun Fukang: The patient's diagnosis of CAH is clear. In some patients with CAH, adrenal medullary lipoma can be found on adrenal imaging, and this patient also has such a presentation. Adrenal medullary lipoma is sometimes indistinguishable from renal vascular smooth muscle lipoma on imaging and relies on pathological diagnosis. In any case, both are benign tumors and have a good prognosis, but they can also be life-threatening if the tumor grows rapidly in a short period of time or bleeds. In principle, tumors larger than 3.5 cm can be considered for surgical resection. Since the patient has recently had a stroke, there is no indication for surgery at present. We suggest the patient to continue medical treatment, follow up the adrenal CT regularly, and consider surgical resection of medullary lipoma if necessary, and pathological examination to clarify the diagnosis. Prof. Ning Guang: The incidence of CAH is about 1:10,000, 21-α hydroxylase defect is the most common, while 11-β hydroxylase defect is rarely reported in China, and four cases have been diagnosed in our department. Since this disease is often presented with hypertension with adrenal hyperplasia as the first symptom, it is very easy to be misdiagnosed as adrenal tumor and undergo adrenalectomy on one side, while the adrenal hyperplasia on the other side is more significant and the patient's symptoms will be more severe after surgery. Therefore, in patients with hypertension with hypokalemia of young onset, precocious puberty in males, pseudohermaphroditism in females, and bilateral adrenal hyperplasia, the possibility of this disease should be considered and should be carefully screened for ACTH, cortisol rhythm, 17-OHP, sex hormones, and renin-angiotensin-aldosterone. This patient has typical symptoms and a clear diagnosis, and it is rare to have such a female-male, periodic "hematuria" presentation. The current treatment should focus on relieving the damage caused by hypertension and hypokalemia as soon as possible, and blind surgery is not advisable. The patient should be given sufficient time to consider his future gender orientation and, if necessary, psychological counseling by a psychiatrist to fully respect the patient's ideas and develop an effective treatment plan. Patient follow-up: According to the treatment plan formulated by our department, after 5 months of treatment, the symptoms of hirsutism and dark skin were significantly relieved, no episodes of hypokalemia, breast pain was relieved, and the periodic "hematuria" was regular once a month, but the last two times of "hematuria" were accompanied by The urinary frequency was high, and white blood cells (+) were found in the urine routine, which improved after anti-infection treatment. Her blood electrolytes were normal, ACTH 31.1 pg/ml, P 0.60 ng/ml, T 0.30 ng/ml, 17-OHP 3.19 ng/mljun all decreased, LH 10.17 mIU/ml, FSH 3.78 mIU/ml, E2 39.00 pg/ml, gynecological ultrasound indicated polycystic ovaries. After taking the drug, she felt mild discomfort in the middle and upper abdomen with acid reflux, and added Pantoloc as a gastric mucosal protector. The patient was consulted and was advised not to be sexually oriented for the time being, to maintain the current status, to continue the original treatment regimen, and to review the endocrine indexes regularly. Figure 1: Schematic diagram of the pathophysiological process of 11β hydroxylase deficiency Figure 2: Short stature, hairy extremities, small hands and feet, pigmentation out of skin joint folds, breast Tanner stage II Figure 3: Clitoris like a small penis, fused labia majora like a scrotum, absent testes, hypospadias Figure 4: Bilateral adrenal hyperplasia with medullary lipoma on the left side and nodules on the right side