Chapter 811: 799 Eskimo Syndrome

"Zheng Lao Ban, what's your opinion?" After the chief of the Endocrinology Department finished speaking, Director Miao of the Urology Department asked.

He thought nothing special about Zheng Ren Gang's refusal when he entered the room; his face still bore a smile, quite calm.

"I'm still looking at the medical records, first getting a grasp of the situation." Zheng Ren smiled and said softly.

"If you have an opinion, just say it; let's pool our ideas." Director Miao comforted: "Let's close the door, among ourselves in the hospital-wide consultation, we needn't fear being wrong."

"Go ahead, don't be afraid of being wrong." Director Qi also said softly from the side.

Zheng Ren thought it over, clarified his ideas, then stood up, cleared his throat, and said: "I haven't looked at the images yet, just the medical records; I'll briefly share my view."

This patient, I believe the discovery of an adrenal tumor is accidental. The true reason the patient came for treatment is lack of menstruation, plus infertility. Regarding this, I consider it possibly caused by 21-hydroxylase deficiency.

The large lecture hall fell silent, to the point where you could hear a pin drop.

More than ten gazes fell on Zheng Ren, but he didn't feel immense pressure; his mind was filled with the patient's condition and similar reports.

Soon, his somewhat chaotic thoughts became much clearer, and he continued speaking.

"Considering the patient has had no menstruation since childhood, I think this is a special case. 21-hydroxylase deficiency, also called Eskimo syndrome, has an incidence as high as 1 in 500 among Eskimo people. But in our country, the incidence is only 1 in 50,000 to 100,000."

"Is it just based on the patient's lack of menstrual history?" asked a beautiful female doctor in her forties, whose looks hadn't faded with time, giving her extra charm.

"Yes and no." Increased ACTH and androgen secretion cause the patient to show masculinization and salt-wasting symptoms, which can be life-threatening when severe. Zheng Ren smiled and said: "Current tests fit both conditions, but an adrenal tumor cannot cause a grown woman to never menstruate. Similar case reports often describe women becoming masculinized."

As Zheng Ren spoke, some vague thoughts in his mind gradually became clearer, and he grew more confident in his judgment. Although he hadn't yet seen the patient or the System Panel's diagnosis, Zheng Ren felt his idea was correct.

The female doctor nodded, looking intently at Zheng Ren and listening carefully.

"I didn't see any related description in the brief medical history. I think it's possible that clinical doctors didn't ask about the relevant history, but that possibility is not high."

"Female virilization mainly shows as acne and body hair, noticeable at a glance, so it should definitely be described. Since it isn't, my judgment is that the patient's condition change is probably not due to adrenal tumor stimulating the gland and causing abnormal secretion. It's very likely 21-hydroxylase deficiency, and the condition is not severe."

"The evidence here is insufficient." The female doctor shook her head.

"The aldosterone series tests, plasma renin activity etc. are normal; the chromaffin series tests, epinephrine, norepinephrine, dopamine are also normal; but in the hormone tests, items like DHEA-S are high, so I boldly made the above judgment."

The female doctor nodded; it seemed she was the Deputy Chief of Nephrology that Director Qi had just mentioned. Her judgment was also 21-hydroxylase deficiency, but neither she nor Zheng Ren had obtained solid evidence.

However, being able to meet a doctor with the same diagnosis in a hospital-wide consultation, while isolated and unaided, naturally brings a sense of closeness.

"Moreover, the B-ultrasound shows a tumor in the patient's right adrenal gland. However, the left adrenal gland also exhibits hypertrophic hyperplastic changes. This should provide some evidence."

"What about a confirmed diagnosis?" Director Miao suddenly asked.

"For female pseudohermaphroditism and male non-GnRH-dependent precocious puberty, one must consider the possibility of CYP21 deficiency. Laboratory tests finding increased urinary 17-KS and 17-KGS excretion and elevated serum 17-OHP and androstenedione levels can confirm the diagnosis." Zheng Ren spoke at length, "Moreover, a gynecological exam is needed to see if there is closure or other changes in intersex characteristics."

"Because the patient's symptoms are mild and testing only started due to infertility, I judge that this change should be minor, but please still have the gynecology department do a pelvic exam."

Director Miao nodded, and the Inpatient Chief beside him immediately recorded Zheng Ren's consultation opinion.

"Surgery is necessary because the tumor's benign or malignant nature is uncertain. Even if benign, it must be removed."

After saying that, Zheng Ren glanced at everyone present, gave a slight bow, and sat down.

"I just wanted you to come look at the images, and maybe save face; I didn't expect you to actually give a diagnosis." Director Qi said softly.

The hospital-wide consultation mainly aims at perioperative treatment, surgical precautions, and postoperative care.

The patient's diagnosis is fairly clear: an abnormality caused by an adrenal tumor.

However, Chief Cui of Nephrology and Zheng Ren both raised objections, and explained their judgments as fully as possible.

The result of this hospital-wide consultation has already exceeded everyone's expectations.

"Having seen similar case reports, this patient's condition and symptoms aren't very typical, but we can still give a rough inference." Zheng Ren smiled and said softly.

"Then let's wait for the test results before saying more." Director Qi remained noncommittal.

The handling of various difficult and miscellaneous diseases, all kinds of strange, is nothing unusual even in the large tertiary hospitals of the capital.

"May I go see the patient for a moment later?" Zheng Ren asked.

"After the meeting disperses, follow Director Miao; if you want to look, go ahead—who could stop you?"

If that's the case, then I can relax.

Having given my own diagnosis, I'll then use the Big Pig Trotter's System Panel to confirm it, and also ask the patient's family.

With evidence from several aspects, we can basically confirm it.

Although 21-hydroxylase deficiency is a life-threatening disease, this patient's symptoms are not severe, and the deficiency hasn't reached a lethal level. With some treatment, the condition should improve.

Zheng Ren even thought that, if there were symptomatic treatment, the patient might still not menstruate but could bear children.

This sounds somewhat fantastical, but there are case reports describing similar situations.

After Zheng Ren finished speaking, other department heads and professors also expressed their views. However, Zheng Ren's remarks left them somewhat distracted.

Someone raised a definite objection, and the evidence is fairly sufficient. Surgery can't be done in the short term; we must wait for the urinary 17-KS and 17-KGS feedback before the condition is clear enough for surgery.

Everyone's gaze toward Zheng Ren was a bit strange, but Zheng Ren felt no malice; they were merely curious.

Half an hour later, the plan was basically set, including preoperative examinations and medication use and dosage during surgery.

The level of 912 remains high, and its academic rigor is strict; Zheng Ren approves of this.

……

……

Note: A case provided by a senior fellow who went to work in the south after graduation. The girl had never menstruated; after treatment she gave birth, but still had no menstruation.

I'm not specialized in this; I just wrote up the data he gave me, but being able to give birth yet not menstruate—I also can't understand it.