CONGENITAL ADRENAL HYPERPLASIA

Presenter:

SANA MATEEN MUNSHI

ROADMAP REVIEW

STEROIDOGENESIS

NEGATIVE FEEDBACK MECHANISM

DEFINATION

COMMON TYPE

BASIC PATHOLOGY

CLINICAL FEATURES & TYPES

DIAGNOSIS & TREATMENT

CHOLESTEROL ENTERY INTO THE CELL

STEROIDOGENESISCHOLESTEROL

PREGNENOLONE

PROGESTERONE

DEOXYCORTICOSTTERONE

CORTICOSTERONE

ALDOSTERONE

17- HYDROPREGNENOLON

E

17- HYDROPROGESTERON

E

11- DEOXYCORTISO

L

CORTISOL

DEHYDRO PLANDROSTERONE

ANDROSTENEDIONE

TESTOSTERONE

P-45017a

P-45017a

3bHSD/ 5-isomerse

P-45021

P-45011

18-oxidase

P-45017a

P-45017a

P-45021

P-45011

“A group of autosomal recessively inherited disorders associated with a deficiency of one of the enzymes involved in cortisol biosynthesis, resulting in elevation of ACTH levels and overproduction and accumulation of cortisol precursors.”

CONGENITAL ADRENAL

HYPERPLASIA

ENZYMES GENES INVOLVED

17 alpha hydroxylase

21 alpha hydroxylase

11 beta hydroxlase

18 oxidase

CYP17A

CYP21A

CYP11B1

CYP11B2

CHOLESTEROL

PREGNENOLONE

PROGESTERONE

P-45021

17- HYDROPREGNENOLON

E

P-45017a

DEHYDRO

PLANDROSTERONE

P-45017a

17- HYDROPROGESTERON

EP-45021

ANDROSTENEDION

E

P-45017a

TESTOSTERONE

21- HYDROXYLASE DEFICIENCY

+ ACTH

P-45017a

BA

SIC

PATH

OLO

GY

• LACK OF CORTISOL

• LACK OF ALDOSTERONE

• INCREASED ANDROGENS

CLINICAL MANIFESTATIONS

IN FEMALES: Virilization

Ambiguous genitalia

Clitoromegaly

Precocious pubic hair

Amenorrhoea

Oligomenorrhea

Accelerated growth & skeletal maeuration

Hirsutism

Labial fusion

Infertility

TYPES

SALT LOSING/ CLASSICAL CAH

SIMPLE VIRILISING/ NON

SALT LOSING CAH

NON CLASSICAL/ LATE CAH

weight loss Weakness Hypotension Hypoglycemia Hyponatrimia Anorexia Vomiting Dehydration Metabolic acidosis

OTHER FINDINGS• Hyponatremia

•Hyperkalemia

•Hypoglycemia

•Hypotenion

•Hypertension

•Hyperpigmentation

ANATOMY

Cerebriform hyperplasia in an 18 day

old infant with salt wasting

congenital adrenogenital syndrome

DIAGNOSIS

investigation

Imaging studies CT scanning

Pelvic ultrasonograpy Urogenitography

Examination of genitals

Urinary tests Blood tests Harmonal tests

Other tests Karyotype Genetic testing

HISTOLOGICAL FINDINGS

TREATMENT:

• Diet• Medication • Surgery

REFER for further details:http://emedicine.medscape.com/article/919218-overview

THANK YOU!!