the evaluation for a child or adolescence with-new …
TRANSCRIPT
THE EVALUATION FOR A CHILD OR
ADOLESCENCE WITH POSSIBLE
ENDOCRINE DISEASE
HISTORY, AUXOLOGY AND EXAMINATIONEXAMINATION
Dr. HAKIMI, SpADr. HAKIMI, SpADr. HAKIMI, SpADr. HAKIMI, SpADr. MELDA DELIANA, SpAKDr. MELDA DELIANA, SpAKDr. MELDA DELIANA, SpAKDr. MELDA DELIANA, SpAKDr. SISKA MAYASARI LUBIS, SpADr. SISKA MAYASARI LUBIS, SpADr. SISKA MAYASARI LUBIS, SpADr. SISKA MAYASARI LUBIS, SpAPEDIATRIC ENDOCRINOLOGY H.ADAM MALIK HOSPITAL MEDANPEDIATRIC ENDOCRINOLOGY H.ADAM MALIK HOSPITAL MEDANPEDIATRIC ENDOCRINOLOGY H.ADAM MALIK HOSPITAL MEDANPEDIATRIC ENDOCRINOLOGY H.ADAM MALIK HOSPITAL MEDAN
HISTORYHISTORYHISTORYHISTORY� ALL DIAGNOSIS BEGINS WITH A COMPREHENSIVE HISTORY AND EXAMINATION
� ESTABLISH A FAMILY TREE THAT RECORDS DETAILS OF THE HEIGHTS (PREFERABLY MEASURED DIRECTLY), BUILD
AND AGE OF SEXUAL MATURATION OF BOTH PARENTS,
SIBLINGS AND ANY MORE DISTANT RELATIONS OF ABERRANT STATURESIBLINGS AND ANY MORE DISTANT RELATIONS OF ABERRANT STATURE
� ESSENTIAL POINTS :
- DETAILS OF PRESENTING PROBLEM AND LEVEL
OF CONCERN
- DETAILS OF MOTHER‘S PREGNANCY AND OF DELIVERY
- BW/ OTHER NEONATAL MEASUREMENTS IF
AVAILABLE
- FAMILY SIZES, AGE AT SEXUAL MATURITY- FAMILY HISTORY OF ENDOCRINE OR
AUTOIMMUNE DISEASE
- SOCIAL DETAILS
- MEDICATION, BY ANY ROUTE
- PAST ILLNESSES OR OPERATIONS
- DIET IN INFANCY AND CURRENT INTAKE- DIET IN INFANCY AND CURRENT INTAKE
- CURRENT GROWTH OUT OF CLOTHES/ SHOES-
ANY PAST FORMAL RECORDS OF GROWTH
- DEVELOPMENTAL OR EDUCATIONAL LEVEL
- BULLYING/ PEER PRESSURE
- ANY SPECIFIC SYMPTOMS IN CHEST/ CVS/ GI/
CNS/ SKIN
AUXOLOGY� WEIGH
AN INFANT SHOULD BE WEIGHED NAKED AND A CHILD IN THE MINIMAL CLOTHING COMPATIBLE WITH MODESTY
A MODERN DISPOSABLE DIAPER CAN WEIGH AS A MODERN DISPOSABLE DIAPER CAN WEIGH AS MUCH AS0, 45 KG WHEN WET AND THE INDOOR CLOTHING OF A
CHILD WEARING SPORTS SHOES AND JEANS WEIGHS AROUND 1, 5 KG
ALL SCALES SHOULD BE REGULARLY CALIBRATED AND SERVICED
� LENGTH OR HEIGHT
UNDER THE AGE OF TWO, AND IN CHILDREN WITH MOTOR DISABILITY, IT IS USUAL TO RECORD SUPINE LENGTH.
THE HEAD IS HELD AGAINTS THE HEADBOARD WITH THE FACE IN A HORIZONTAL PLANE.
THE HIPS AND KNEES ARE GENTLY EXTENDED WHILST KEEPING THE PELVIS HORIZONTAL AND THE MOVABLE FOOT BOARD BROUGHT UP TO TOUCH THE SOLES OF THE FEET HELD AT 90°.BROUGHT UP TO TOUCH THE SOLES OF THE FEET HELD AT 90°.
STANDING HEIGHT SHOULD BE MEASURED USING A STADIOMETER OR OTHER RULE, IN BARE FEET WITH THE HEELS IN THE SAME VERTICAL PLANE AS THE MEASURING INSTRUMENT.
THE ARMS SHOULD BE HELD RELAXED AT THE SIDES, AND THE FACE SHOULD BE IN THE FRANKFURT PLANE WITH THE OUTER CANTHUS OF THE EYE AND THE EXTERNAL AUDITORY MEATUS HORIZONTAL.
� CROWN-RUMP LENGTH OR SITTING HEIGHT
THE ESTIMATION OF THE LENGTH OF THE BACK AND HEAD CAN BE OF GREAT BENEFIT IN ESTABLISHING THE RELATIVE PROPORTIONS OF THE BODY
IN AN INFANT THE LEGS ARE DRAWN UP TO 90°AND THE FOOT BOARD BROUGHT INTO CONTACT WITH THE FOOT BOARD BROUGHT INTO CONTACT WITH THE BUTTOCKS
IN AN OLDER CHILD, USING A SPECIALLY DESIGNED INSTRUMENT WITH THE FEET RESTING ON A BAR, THE ARMS FOLDED LOOSELY IN THE LAP AND A SIMILAR STRETCH TECHNIQUE TO THE ONE DESCRIBED ABOVE, IT IS POSSIBLE TO OBTAIN PRECISE ESTIMATES OF SITTING HEIGHT
� HEAD CIRCUMFERENCE
A NON-STRETCHABLE PAPER OR METAL TAPE MEASURE SHOULD BE USED AND THREE MEASUREMENTS MADE OF THE MAXIMUM OCCIPITO-FRONTAL CIRCUMFERENCE (OFC)
� SKINFOLD THICKNESSES� SKINFOLD THICKNESSES
THE TRICEPS SKINFOLD IS DETERMINED WITH THE LEFT ARM LOOSE AT THE SIDE AND A FOLD RAISED BETWEEN THE MEASURER‘S THUMB AND FOREFINGER AT THE MID-POINT OF THE DORSUM OF THE UPPER ARM
THE SCAPULAR SKINFOLD IS RAISED AT THE TIP OF THE SHOULDER BLADE, ON THE LEFT, WITH THE ARMS AGAIN RELAXED AT THE SIDES
THE BICEPS SKIN FOLD IS DETERMINED AS FOR THE TRICEPS SKINFOLD BUT ON THE VENTRAL ASPECT OF THE UPPER ARM
THE SUPRA-ILLIAC FOLD IS FOUND AT THE MAXIMUM HEIGHT OF THE ILLIAC CREST
� BODY MASS INDEX (QUETELET INDEX)
WEIGHT (KG)
HEIGHT (M²)
� OTHER MEASUREMENTS
A MEASUREMENT OF SPAN IS THE MOST LIKELY TO BE OF USE IN THE ENDOCRINE CLINIC AND MAY BE ESTIMATED BY MEASURING THE FINGERTIP TO FINGERTIP DISTANCE WITH THE ARMS HELD HORIZONTALLY
SPAN= HEIGHT ± 3, 5 CM (1½ IN)
Growth Chart
145
150
155
160
165
170
175
180
185
190
195
Height
97
50
3
80
85
90
95
100
105
110
115
120
125
130
135
140
2 4 6 8 10 12 14 16 18
Age (years)
Height
(cm)
� Potential genetic height: The range of adult height that should be
achieved the child regarding to the biological parents final height.
Boys = (Fh + 13) + Mh ±±±± 8.5 cm
2
Girls = (Fh - 13) + Mh ±±±± 8.5 cm2
CHARTS OF HEIGHT AND WEIGHT IN MANY, NAMED SYNDROMIC CONDITIONS HAVE BEEN PUBLISHED AND SHOULD BE USED WHERE NECESSARY
THERE ARE ALSO CHARTS OF LIMB LENGTH, HEIGHT AND OFC FOR MANY OF THE SKELETAL DYSPLASIASOFC FOR MANY OF THE SKELETAL DYSPLASIAS
� GROWTH VELOCITY
Ht 2 – Ht 1
INTERVAL (YEARS)
EXAMINATION
� THE HANDS
- ABNORMAL DERMATOGLYPHICS (A SINGLE PALMAR
CREASE)
- INCREASED JOINT MOBILITY IN MARFAN SYNDROME - INCREASED JOINT MOBILITY IN MARFAN SYNDROME
SHOWN BY TOUCHING PALM WITH LENGTH OF THUMB
AND ABILITY TO ENCLOSE THUMB, WHICH PROTRUDES
FROM THE OTHER SIDE, WITH THE CLENCHED HAND
- JOINT STIFFNESS IN A LONG-STANDING DIABETIC.
THE PRAYER SIGN IS CAUSED BY IRREVERSIBLE
GLYCOSYLATION OF TISSUE PROTEINS
- CLOW HANDS WITH STORAGE DISORDERS (MUCOLIPIDOSIS 3 AND HUNTER SYNDROME)
- FIXED JOINT CONTRACTURES (ARTHROGRYPOSIS),PRESENTING AS BILATERAL TALIPES IN A CHILD WITH CAMPTODACTYLY AND PRENATAL ONSET SHORT STATURE
- ARACHNODACTYLY IN THE MARFAN SYNDROME.THE WRIST SIGN, DEMONSTRATED BY CLASPING ONE WRIST WITH THE OPPOSITE HAND AND NOTING OVERLAP OF THE DISTAL PHALANGES OF THUMB AND MIDDLE FINGER
- BRACHYDACTYLY- BRACHYDACTYLY
- SHORT FIFTH DIGIT IN COFFIN-SIRIS SYNDROME
- SHRT FOURTH AND FIFTH METACARPALS SEEN IN HAND OF CHILD WITH PSEUDOHYPOPARATHYROIDISM
- SYNDACTYLY
- POLYSYNDACTYLY, IN THE CARPENTER SYNDROM
- CAMPTODACTYLY
- CLINODACTYLY
- MYOPATHIC HAND IN CHILD WITH COEXISTENT GROWTH HORMONE DEFICIENCY AND SEVERE SCOLIOSIS
- TRIDENT HAND IN ACHONDROPLASIA
- BROAD THUMB AS SEEN IN RUBINSTEIN-TAYBI SYNDROME
- TRIPHALANGEAL THUMB
- LOW SET THUMB
- EXPANDED INTERPHALANGEAL JOINTS AND FINGER TIPS IN AARSKOG SYNDROME
- EXPANSION OF THE WRIST IN NUTRITIONAL RICKETS
- CLUBBING, IN CYSTIC FIBROSIS
- DEEP-SET NAILS IN SOTOS SYNDROME
- HYPOPLASTIC NAILS AS SEEN IN AROUND 40% OF GIRLS - HYPOPLASTIC NAILS AS SEEN IN AROUND 40% OF GIRLS WITH THE ULLRICH-TURNER SYNDROME
- NEONATAL LYMPHEDEMA SEEN IN 75% OF GIRLS WITH THE ULLRICH-TURNER SYNDROME
- YELLOW PALMAR DISCOLORATION IN PITUITARY GIGANTISM (ALSO SEEN IN HYPOTHYROIDISM)
� THE ARMS
RADIOGRAPH OF FOREARM IN LERI-WEILL DYSCHONDROSTEOSIS WITH BOWED RADIUS PRODUCING LIMITED FOREARM ROTATION
RADIAL HYPOPLASIA IN THE HOLT-ORAM SYNDROME, RADIAL HYPOPLASIA IN THE HOLT-ORAM SYNDROME, ASSOCIATED WITH ASD AND VSD
INCREASED CARRYING ANGEL AS SEEN IN 50% OF GIRLS
WITH ULLRICH-TURNER SYNDROME
� THE HEAD AND NECK
LOOSE SKIN OF NECK IN NEONATE WITH THE DOWN SYNDROME, ULLRICH-TURNER SYNDROME
LATER WEBBING OF THE NECK IN A CASE OF THE NOONAN SYNDROME (AS SEEN TO SAME DEGREE IN 70% OF THE GIRLS WITH THE ULLRICH-TURNER SYNDROME
LOW HAIR LINE WITH MID-LINE EXTENSION SEEN IN 75% OF GIRLS WITH ULLRICH-TURNER SYNDROME
SHORT NECK DUE TO VERTEBRAL ABNORMALITIES (THE KLIPPEL-FEIL MALFORMATION) PRODUCING AN APPEARANCE SUPERFICIALLY SIMILAR TO ULLRICH-TURNER SYNDROME
DOLICHOCEPHALY FROM CRANIOSYNOSTOSIS
SEVERE HYPERTELORISM
PTOSIS AS SEEN IN 25% OF GIRLS WITH ULLRICH-TURNER SYNDROME, THE MAJORITY OF CHILDREN WITH THE NOONAN AND MORE THAN 50 OTHER DYSMORPHIC SYNDROMES
EXOPHTHALMOS IN THYROTOXICOSIS
ENOPHTHALMOS IN CHILD WITH BLINDNESS AND ENOPHTHALMOS IN CHILD WITH BLINDNESS AND HYPOPITUITARISM SECONDARY TO BASAL ASTROCYTOMA
CLEFT LIP AND PALATE ASSOCIATED WITH PANHYPOPITUITARISM
CLEFT PALATE IN SMITH-LEMLI-OPITZ SYNDROME
MID LINE CLEFT AND ABNORMAL NOSE IN HOLOPROSENCEPHALY
MAY BE ASSOCIATED PANHYPOPITUITARISM
HIGH ARCHED PALATE SEEN IN 75% OF GIRLS WITH ULLRICH-TURNER SYNDROME AND THE MAJORITY OF CASES OF MARFAN SYNDROME
SMOOTH TONGUE IN SEVERE IRON DEFICIENCY
GLOSSAL AND LABIAL NEUROMATA IN MULTIPLE ENDOCRINE ADENOMATOSIS TYPE 2b
FISH-LIPS IN ORAL CROHN‘S DISEASE
ORAL CANDIDIASIS.
IF SEEN OUTSIDE INFANCY THEN EXCLUDE DM, IMMUNODEFICIENCY AND AUTOIMMUNE DISEASE
PEG-LIKE TEETH IN ECTODERMAL DYSPLASIA
BILIRUBIN STAINING AFTER SEVERE JAUNDICE IN PREMATURE NEONATE WITH SUSTAINED GROWTH FAILURE
SINGLE CENTRAL INCISOR ASSOCIATED WITH CONGENITAL GROWTH HORMONE DEFICIENCY
EXTREME DELAY OF DENTAL ERUPTION IS SEEN IN CLEIDOCRANIAL DYSOSTOSIS (HYPOTHYROIDISM MAY PRODUCE SIMILAR GROSS DELAY)
LOW SET BACKWARD ROTATED EARSLOW SET BACKWARD ROTATED EARS
ABNORMAL HELICAL PATTERN IN PSEUDOHYPOPARATHYROIDISM
SPARSE`HEAD HAIR IN RUSSELL-SILVER SYNDROME
MENKES KINKY WOOL HAIR SYNDROME
HAIR-LOSS IN PROGERIA
TEMPORAL THINNING OF THE HAIR IN GROSS HYPOTHYROIDISM
� THE CHEST, ABDOMEN AND CV SYSTEM
PECTUS EXCAVATUM IN MARFAN‘S SYNDROME,
PECTUS CARINATUM IN THE NOONAN SYNDROME
A RACHITIC ROSARY IN A CASE OF CYSTINOSIS
SCOLIOSIS WITH PLEXIFORM NEROMA IN NEUROFIBROMATOSISSCOLIOSIS WITH PLEXIFORM NEROMA IN NEUROFIBROMATOSIS
SCOLIOSIS IN CAMPTODACTYLY SYNDROME OF THE TEL-HASHOMER VARIETY
UMBILICAL HERNIA AND VISIBLE ORGANOMEGALY IN BECKWITH-WIEDEMANN SYNDROME
ANAL SIGNS OF CROHN‘S DISEASE
� THE BREASTS
POLAND SEQUENCE.
THERE IS ABSENCE OF THE LEFT PECTORALIS MAJOR AND BREAST TISSUE
NEONATAL BREAST ABSCESS
PHYSIOLOGICAL NEONATAL GYNECOMASTIA
MALE GYNECOMASTIA WITH MODERATE OBESITY
VIRGINAL BREAST HYPERTROPHY (JUVENILE FIBROADENOMA)
ACCESSORY NIPPLE
� THE CNS AND EYES
PAPILLEDEMA IN CRANIOPHARYNGIOMA
OPTIC ATROPHY (DIDMOAD SYNDROME)
RETINAL DYSPLASIA IN SEPTO-OPTIC DYSPLASIA (DE MORSIER SYNDROME)
RETINITIS PIGMENTOSA IN THE LAURENCE-MOON SYNDROME
PSEUDOPAPILLEDEMA CAUSED BY ABNORMAL STORAGE DEPOSITS PSEUDOPAPILLEDEMA CAUSED BY ABNORMAL STORAGE DEPOSITS IN GELEOPHYSIC DWARFISM
UPWARDS LENS DISLOCATION IN THE MARFAN SYNDROME
BLUE SCLERAE IN THE COMMONEST TYPE 1 OI
NEVUS OF OTA ASSOCIATED WITH GIGANTISM AND SEXUAL PRECOCITY DUE TO HYPOTHALAMIC DYSFUNCTION
LONG EYELASHES IN DE LANGE SYNDROME
� BODY SHAPE AND THE SKIN
GENERALIZED LIPOATROPHY IN LEPRECHAUN SYNDROME
LIPOATROPHY, LIPOHYPERTROPHY AT HUMAN INSULIN INJECTION SITES
ABNORMAL ABDOMINAL FAT IN HYPOPITUITARISM
GENERALIZED HEMIHYPERTROPHY
ISOLATED HEMIHYPERTROPHY
OVERGROWTH OF LIMB IN KLIPPEL-TRENAUNAY-WEBER SYNDROME
MULTIPLE NEUROMAS IN NEUROFIBROMATOSIS
CAFÉ AU LAIT SPOTS IN NEUROFIBROMATOSIS, Mc CUNE-ALBRIGHT SYNDROME
PLEXIFORM NEUROMA IN NEUROFIBROMATOSIS
GENERALIZED HYPERPIGMENTATION IN NELSON‘S SYNDROME
MULTIPLE PIGMENTED NEVI
SCAR PIGMENTATION IN ADDISONISM
ACANTHOSIS NIGRICANS
SEVERE VITILIGO IN POLYGLANDULAR SYNDROME TYPE 1
TISSUE PAPER SCARS FROM EXCESS SKIN FRAGILITY, EXTENSIBLE SKIN IN EHLERS-DANLOS SYNDROME
CHILD ABUSE
DOWNY BODY HAIR IN AARSKOG SYNDROME
HYPERTRICHOSIS
STRIAE IN CUSHING SYNDROME
ATROPHIC SKIN ON HANDS IN PROGERIA
LICHENIFICATION OF SKIN IN PLACENTAL SULFATAS DEFICIENCY
RED FISSURED FEET IN 3A SYNDROME
NECROBIOSIS LIPOIDICA, GRANULOMA ANNULARE IN IDDM
DIMPLING OVER TIBIA IN HYPOPHOSPHATASIA