-TURNER'S SYNDROME

-POLYCYSTIC OVARY SYNDROME= STEIN LEVENTHAL SYNDROME

2/

KLINEFELTER'S SYNDROME

FABRY'S DISEASE

GAUCHER'S DISEASE

TANGIER'S DISEASE

WILSON'S DISEASE

DEF: HYPOGONADISME DISORDER

CLINIC: ***GYNECOMASTIA

***MENTAL RETARDATION

***SMALL TESTES

DIAG: ***HISTORY , PHYSICAL EXAM

***CHROMOSOME ANALYSIS [ 47 XXY]

***TESTICULAR BIOPSY

PATHOLOGY: ***SEMINEFEROUS TUBULE DYSGENESIS.

TRT: NONE , MAY GIVE TESTOSTERONE

KLINEFELTER'S SYNDROME

HYPERGONADOTROPIC SYNDROMES [PRIMARY HYPOGONADISM]:

CONGENITAL TESTICULAR DAMAGE

47 XXXY KARYOTYPE

1 IN 400 MALE BIRTHS

***SMALL TESTES

***THERE IS HYALINIZATION OF THE SEMINIFEROUS TUBULES AND AZOOSPERMIA.

***LEYDIG CELL FUNCTION IS VARIABLE

***TESTOSTERONE LEVELS ARE DEFICIENT AND EUNUCHOIDISM IS PRESENT IN MANY BUT NOT ALL CASES .

***GYNECOMASTIA

***LH AND FSH ELEVATED EVEN IN PATIENTS WITHOUT TESTOSTERONE DEFICIENCY .

***ELEVATED URINARY GONADOTROPIN LEVELS

***MENTAL DEFICIENCY [25% OF PATIENTS]

***TRT TESTOSTERONE

CAUSES OF HYPOGONADISMS IN MEN:

HYPOGONADOTROPIC SYNDROMES

***HYPOPITUITARISM

***HYPOGONADOTROPIC EUNUCHOIDISM

+++KALLMANN'S SYNDROME

***DELAYED PUBERTY

***KLINEFELTER'S SYNDROME

***TESTECULAR AGENESIS

***TESTECULAR INJURY

+++MUMPS ORCHITIS

+++OTHER INFECTIONS [GONORRHEA]

+++TRAUMA

+++SURGERY

+++RADIOTHERAPY

+++CANCER CHEMOTHERAPY

+++CRYPTORCHIDISM

+++MYOTONIC DYSTROPHY.

HYPOGONADOTROPIC HYPOGONADISM

HYPOGONADOTROPIC [SECONDARY] HYPOGONADISM =DEFICIENCY OF LH AND FSH,

TESTOSTERONE DEFICIENCY AND EUNOCHOIDISM.

ASSOCIATED WITH MIDLINE DEFECTS SUCH : ***AGENESIS OF THE OLFACTORY LOBES

***ANOSMIA

***CLEFT PALATE

MORE COMMON IN MEN THAN IN WOMEN .

THE BASIC HORMONAL DEFECT IS THE HYPOTHALAMUS,RATHER THAN IN THE PITUITARY GLAND

DEMONSTRATED BY LH AND FSH RESPONSE TO Gn RH ADMINISTRATION.

***METABOLIC INBORN ERROR DISORDER

***RENAL FAILURE

***SKIN LESION : TELANGIECTASIA

ANGIOKERATOMAS

PAIN

FEVER EPISODES

DIAG : ***DEFICIENT SERUM /TISSUE a D-GALACTOSIDASE A.

PATH: ***GLYCOSPHINGOLIPID DEPOSIT ON THE TISSUES [ EYES, KIDNEY, HEART, CNS, ]

FAMILIAL GLUCOSYL CERAMIDE LIPIDOSIS

CAUSE: ***GLUCOCEREBROSIDASE ENZ DEFICIENCY

RESULTING : ***ACCUMULATION OF SPHINGOLIPID GLUCOCEREBROSIDE.

***LETHARGY

***ANEMIA AND THROMBOCYTOPENIA DUE TO HYPERSPLENISM AND DECREASED PRODUCTION DUE TO CELLULAR INFILTRATION OF THE BONE MARROW.

***SPLENOMEGALY-HEPATO MEGALY BY PROLIFERATION OF HISTIOCYTES LEADS TO HEPATOSPLENOMEGALY

EROSION OF THE CORTICES OF LONG BONES

***BONE/ JOINT PAIN

***WITH OR WITHOUT CNS SIGNS/SYMPTOMS

DIAG: ***GAUCHER'S CELLS IN MARROW AND SPLEEN ASPIRATION [HISTIOCYTES WITH LINEAR STREAKS]

PATHOLOGY: ***EXCESS GLUCOCEREBROSIDE DEPOSITION

TRT : COMPLICATION

LARGE ORANGE TONSILS

NEUROPATHY

SPLENOMEGALY

DIAG : ***LOW SERUM CHOLESTEROL

***CORNEAL OPACITY

***CHOLESTEROL ESTER STORAGE IN MULTIPLE BODY AREAS

PATHOLOGY: ***DEFICIENCY OF HDL

***AUTOSOMAL RECESSIVE

DESCRIPTION: ***HEPATOLENTICULAR DEGENERATION

***DEFICIENCY OF THE COPPER-BINDING PROTEIN CERULOPLASMIN.

***OCCURING IN MALNOURISHED INFANTS OR IN ADULT MAINTAINED FOR LONG PERIODS ON IV HYPERALIMENTATION

SYMPTOMS: ***KAYSER-FLEISCHER RING IN DESCEMET'S MEMBRANE OF THE CORNEA

***SUN FLOWER CATARACTS, WHICH REFLECT COPPER DEPOSITION IN THE ANTERIOR LENS CAPSULE

*** NEUROLOGIC [TREMOR]-MOVEMENTS DISORDERS [INCOORDINATION, TREMOR, MASKED FACIES, DYSTONIA, ATHETOSIS]

***CIRRHOSIS

***BEHAVIOR PROBLEMS [INCLUDING PSYCHOSIS]

***HEMOLYTIC ANEMIA

DIAG: ***LOW CERULOPLASMIN

***INCREASED URINARY COPPER EXCRETION [> 100MICRO G/24H]

***MRI : ATROPHY OF THE CAUDATE AND PUTAMEN WITH INCREASED SIGNAL INTENSITY ON T2-WEIGHTED IMAGES.

PATHOLOGY: ***AUTOSOMAL RECESSIVE LOCALIZED TO CHROMOZOME 13

***EXCESS COPPER DEPOSITS IN LIVER

BRAIN

KIDNEY

CORNEA

***SPOTTY HEPATOCYTE NECROSIS

CHOLESTASIS

STEATOSIS

GLYCOGENATED HEPATOCYTES NUCLEI

PERIPORTAL MALLORY'S HYALIN

CHRONIC ACTIVE HEPATITIS

***COPPER DEPOSIT ARE INITIALLY CYTOPLASMIC

IN ADVANCE DISEASE CONFINED TO LYSOSOMES.

***CIRRHOSIS USUALLY MACRONODULAR

TRT : ***ORAL D-PENICILLAMINE

***CHELATING AGENTS.

***TRANSPLANTATION FOR FULMINANT HEPATIC FAILURE.

***DEFECT IN PURINE METABOLISM

***CHOREOATHETOSIS

***MENTAL RETARDATION

***SELF MUTILATION

CALCIFICATION OF THE BASAL GANGLIA AND CEREBELLUM

DUE TO HYPOPARATHYROIDISM

+++CHRONIC MYELOID LEUKEMIA

+++BURKITT'S LYMPHOMA

+++WILM'S TUMOUR ANIRIDIA ASSOCIATION

+++RETINOBLASTOMA

+++SMALL CELL CARCINOMA OF THE LUNG

+++ATAXIA TELANGIECTASIA

+++FANCONI'S ANEMIA

+++XERODERMA PIGMENTOSUM

+++BLOOM'S SYNDROME