A 32-year-old patient, unmarried, and a watchman by profession was referred to the PIMS surgery department for resection of an abdominal mass.

congenital adrenal hyperplasia
32 years old patient with hypertension

The abdominal mass was investigated during his previous admissions and a laparoscopic biopsy was done which was consistent with the diagnosis of myelolipoma.

The patient was admitted to the surgical ward and repeatedly scheduled for surgery but his blood pressure would rise to above 200/100 mmHg and would be sent back to the ward.

He was under treatment from the cardiology department and was using a calcium channel blocker, beta-blocker, angiotensin receptor blocker, and a diuretic but his blood pressure was never controlled. A medical consult was sought this time.

Reviewing his record, he was diagnosed as a case of hypertension since the age of eighteen years. He was admitted multiple times for hypertensive crisis at various tertiary care hospitals.

His workup for hyperaldosteronism and pheochromocytoma was repeatedly done but was always negative. The abdominal mass was incidentally picked up on an abdominal ultrasound after which he was referred for surgery.

CECT of the abdomen was consistent with the abdominal mass.

His General physical examination was normal except for a Blood pressure of 145/95 mmHg. He had a hyperdynamic precordium and an abdominal mass on palpation of the abdomen. The genital examination is as shown in the picture:

congenital adrenal hyperplasia
genitalia of the patient

His laboratory investigations were absolutely normal except for hypernatremia and hypokalemia (on various occasions).

Before going on to the investigations which the medical team advised and further discussion, let’s evaluate ourselves first!!

  1. What is the possible diagnosis at this stage?
  2. What is the abdominal mass?
  3. What investigations should be advised to this patient to confirm the diagnosis?
  4. How should this patient be managed?
question key
key for the above questions

Key for the above questions and a brief discussion is posted below. New visitors should try to think and solve the questions prior to looking at the key.

  1. What is the possible diagnosis at this stage?

Congenital adrenal hyperplasia due to 11 beta hydroxylase deficiency

  1. What is the abdominal mass?

adrenal rest tumor

  1. What investigations should be advised to this patient to confirm the diagnosis?

ultrasound pelvis to look for female internal genitalia (ovaries, uterus)

karyotyping (to determine 46 XX – female genotype)

urinary 17 ketosteroids will be high

11 deoxycortisol and 11 deoxycorticosterone will be high

androgens (DHEA, DHEA-S, and testosterone) will be raised

renin levels will be low

  1. How should this patient be managed?

low dose steroids after dinner to suppress the production of ACTH

spironolactone (aldosterone receptor antagonist)

genital reconstructive surgery

What happened to our patient?

Our patient was advised a pelvic ultrasound that revealed normal internal genitalia of the females i.e., ovaries and uterus.

The patient was advised 11 deoxycortisol levels but the test was not done because of non-affordability.

The patient underwent surgical resection of the tumor and to the surgeons surprise one of the adrenal glands was missing!!

The patient was counseled about his disease and that HE IS ACTUALLY A SHE. He was started on dexamethasone 0.5 mg at bedtime and spironolactone. He came for a follow up after a few weeks. His blood pressure was controlled with only spironolactone, electrolytes were normal but the patient refused to take the medicines any further as he complained of breast enlargement.

Because he was a watchman at a university, his change in appearance might result in his disqualification from his job. Secondly, he was brought up as a male and gender change at this time was not an easy task, so he discontinued the treatment.

discussion on hypertension
discussion

A brief discussion about congenital adrenal hyperplasia and 11 Beta hydroxylase deficiency in specific.

Congenital adrenal hyperplasia is also known as the adrenogenital syndrome. As the name suggests it has two main components

  1. Deficiency or excess of adrenal hormones
  2. With clinical features manifesting in the genital system.

The adrenal glands are located above each kidney. Each adrenal gland is made up of two regions, the inner region (called the medulla) which produces adrenaline and the outer region (called the cortex) which produces adrenal steroid hormones.

Three types of adrenal steroids are produced; glucocorticoids ( sugar hormones), mineralocorticoids ( salt-water hormones) and androgens (male hormones).

Adrenogenital syndrome or congenital adrenal hyperplasia

  • A group of disorders
  • caused by
    • adrenocortical hyperplasia
  • resulting in
    • abnormal secretion of adrenocortical hormones and
  • characterized by
    • virilization of women, feminization of men, or precocious sexual development in children
congenital adrenal hyperplasia
adrenal steroidogenesis pathway

the three main hormones produced by the adrenal glands are shown in the diagram above. Cortisol is the main hormone inhibiting the production of ACTH. If cortisol production is stopped, ACTH production will increase.

congenital adrenal hyperplasia
Flowchart of adrenal hormones production

The main hormonal deficiencies in congenital adrenal hyperplasia

congenital adrenal hyperplasia
The main hormonal defects in CAH

Enzymes you must not forget!

congenital adrenal hyperplasia
Enzyme deficiency causing CAH

Let’s discuss briefly 11 beta hydroxylase deficiency

congenital adrenal hyerplasia
II beta hydroxylase deficiency

11 Beta hydroxylase deficiency which is the second most common cause of adrenal hyperplasia is characterized by hypertension and hypokalemia. As seen in the flowchart, deficiency of 11 hydroxylase causes a deficiency of both cortisol and aldosterone.

Since cortisol is not synthesized, the negative feedback mechanism controlling ACTH is lost. This results in overproduction of ACTH which stimulates the adrenal gland.

The adrenal gland responds by producing more androgens and precursors of cortisol and aldosterone. 11 deoxycorticosterone, a precursor of aldosterone has mineralocorticoid activity resulting in hypertension. similarly, excessive androgens cause ambiguous genitalia in females and precocious puberty in males.

Diagnosis of 11 Beta hydroxylase deficiency

Diagnosis is made by measuring precursors of cortisol and aldosterone, androgens and rarely ACTH stimulation test. Ultrasound of the pelvis to determine the internal genitalia and karyotyping to determine the genotype.

Treatment of 11 beta-hydroxylase deficiency patients

treatment is with steroids, used in the evening, to suppress ACTH and aldosterone receptor antagonists. genital reconstructive surgery may be done to correct the phenotype of the person.

Monitoring is necessary to evaluate for steroid overdose or underdosing.

congenital adrenal hyperplasia
glucocorticoid treatment excess
congenital adrenal hyperplasia
insufficient dose of glucocorticoids

Read more …

  1. Hypertension – exam scenario and discussion
  2. A patient with a fever and a cardiac murmur
  3. A patient with bilateral lower limbs DVT

 

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Hira saleh
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1. hypertension with hypernatrmia and hypokalemia shows that patient is having adrenal problem like hyperaldosteronism but as mentioned that hyperaldosteronism is ruled out then other thing come to my mind is pt with ambiguous genatalia is CAH but in that pt is having Hypotension and salt wasting so that is also in my differential but in that where i fit hypertension so rule out that, another may be because of myelolipoma but what can be the cause of myelolipoma ? So will be waiting for key

Dr. Naveed
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Dr. Naveed

Sir app ne ajj CAH ka case post kara he liya. Lol. Last dono cases mai i had CAH as my differential. Most probebly it is 11-hydroxylase deficiency. This is a genotypically 46XX female with virilisation cause by excess DHEAs and androstinedione converted to testosterone. Q1. 11-OHase deficiency Q2. Most likely an adrenal mass Q3. 11-DOC levels, serum electrolytes, renin and angiotensin levels along with ratio calculation, s. Cortisol, androgen levels, USG (not only for the mass but also a pelvic ultrasoind for visualisation of uterus, ovaries etc), CT abdomen and pelvis. Q4. As medical treatment has failed in this… Read more »

Naveed
Member

The mass doesnt make sence in relation to the diagnosis though i guess. It might be another problem with the patient.

Yahya khan
Guest

I asked most of my friends but they said its not a simple case to answer

Anonymous
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Anonymous

Only patients with 21 hydroxylase deficiency have salt losing features and hypotension