THE EVALUATION FOR A CHILD OR THE EVALUATION FOR A CHILD OR ADOLESCENCE WITH POSSIBLE ENDOCRINE DISEASEENDOCRINE DISEASE
HISTORY AUXOLOGY ANDHISTORY, AUXOLOGY AND EXAMINATION
Dr. HAKIMI, SpADr. MELDA DELIANA, SpAKDr. SISKA MAYASARI LUBIS, SpA
PEDIATRIC ENDOCRINOLOGY H.ADAM MALIK HOSPITAL MEDAN
HISTORYHISTORYALL DIAGNOSIS BEGINS WITH A COMPREHENSIVE HISTORY AND EXAMINATION
ESTABLISH A FAMILY TREE THAT RECORDS DETAILS OF THE HEIGHTS (PREFERABLY MEASURED DIRECTLY), BUILDAND AGE OF SEXUAL MATURATION OF BOTH PARENTS AND AGE OF SEXUAL MATURATION OF BOTH PARENTS, SIBLINGS AND ANY MORE DISTANT RELATIONS OF ABERRANT STATURE
ESSENTIAL POINTS :- DETAILS OF PRESENTING PROBLEM AND LEVEL OF CONCERNOF CONCERN
- DETAILS OF MOTHER‘S PREGNANCY AND OF DELIVERY - BW/ OTHER NEONATAL MEASUREMENTS IF AVAILABLEAVAILABLE
FAMILY SIZES AGE AT SEXUAL MATURITY- 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- CURRENT GROWTH OUT OF CLOTHES/ SHOES-- 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/ SKINCNS/ SKIN
AUXOLOGYAUXOLOGYWEIGH
AN INFANT SHOULD BE WEIGHED NAKED AND A CHILD IN THE MINIMAL CLOTHING COMPATIBLE WITH MODESTYWITH MODESTY
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 HEIGHTLENGTH OR HEIGHT
UNDER THE AGE OF TWO, AND IN CHILDREN WITH MOTOR DISABILITY IT IS USUAL TO RECORD SUPINE LENGTHDISABILITY, 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 KEEPINGTHE 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°.
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 HORIZONTALHORIZONTAL.
CROWN-RUMP LENGTH OR SITTING HEIGHTCROWN RUMP LENGTH OR SITTING HEIGHT
THE ESTIMATION OF THE LENGTH OF THE BACK AND HEAD CAN BE OF GREAT BENEFIT IN ESTABLISHING THE RELATIVECAN 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 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 MEASUREA NON-STRETCHABLE PAPER OR METAL TAPE MEASURE SHOULD BE USED AND THREE MEASUREMENTS MADE OF THE MAXIMUM OCCIPITO-FRONTAL CIRCUMFERENCE (OFC)
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 THETHE 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 ARMUPPER ARM
THE SUPRA-ILLIAC FOLD IS FOUND AT THE MAXIMUM HEIGHT OF THE ILLIAC CRESTHEIGHT OF THE ILLIAC CREST
BODY MASS INDEX (QUETELET INDEX)
WEIGHT (KG)HEIGHT (M²)HEIGHT (M )
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 WITHMEASURING THE FINGERTIP TO FINGERTIP DISTANCE WITH THE ARMS HELD HORIZONTALLY
SPAN HEIGHT 3 5 CM (1½ IN)SPAN= HEIGHT ± 3, 5 CM (1½ IN)
Growth Chart195
175
180
185
190
97
50
155
160
165
170
50
3
130
135
140
145
150
Height (cm)
110
115
120
125
130
90
95
100
105
110
80
85
2 4 6 8 10 12 14 16 18
Age (years)
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 cm22
CHARTS OF HEIGHT AND WEIGHT IN MANY, NAMED SYNDROMIC CONDITIONS HAVE BEEN PUBLISHED ANDSYNDROMIC 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 DYSPLASIAS
GROWTH VELOCITY
Ht 2 Ht 1Ht 2 – Ht 1INTERVAL (YEARS)
EXAMINATIONEXAMINATIONTHE HANDS
- ABNORMAL DERMATOGLYPHICS (A SINGLE PALMAR CREASE)
- INCREASED JOINT MOBILITY IN MARFAN SYNDROME SHOWN BY TOUCHING PALM WITH LENGTH OF THUMB AND ABILITY TO ENCLOSE THUMB, WHICH PROTRUDESFROM 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 ANDCLOW 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 STATURECAMPTODACTYLY 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 FINGERTHUMB AND MIDDLE FINGER
- BRACHYDACTYLY
- SHORT FIFTH DIGIT IN COFFIN-SIRIS SYNDROMESHORT FIFTH DIGIT IN COFFIN SIRIS SYNDROME
- SHRT FOURTH AND FIFTH METACARPALS SEEN IN HAND OF CHILD WITH PSEUDOHYPOPARATHYROIDISM
SYNDACTYLY- SYNDACTYLY
POLYSYNDACTYLY IN THE CARPENTER SYNDROM- POLYSYNDACTYLY, IN THE CARPENTER SYNDROM
- CAMPTODACTYLY
CLINODACTYLY- 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- LOW SET THUMB
- EXPANDED INTERPHALANGEAL JOINTS AND FINGER TIPS IN AARSKOG SYNDROME
- EXPANSION OF THE WRIST IN NUTRITIONAL RICKETS
CLUBBING IN CYSTIC FIBROSIS- CLUBBING, IN CYSTIC FIBROSIS
- DEEP-SET NAILS IN SOTOS SYNDROME
- 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 SYNDROMEULLRICH TURNER SYNDROME
- YELLOW PALMAR DISCOLORATION IN PITUITARY GIGANTISM (ALSO SEEN IN HYPOTHYROIDISM)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, ASSOCIATED WITH ASD AND VSDASSOCIATED 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 DOWNLOOSE 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% OFLOW 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 APPEARANCEFEIL MALFORMATION) PRODUCING AN APPEARANCE SUPERFICIALLY SIMILAR TO ULLRICH-TURNER SYNDROME
DOLICHOCEPHALY FROM CRANIOSYNOSTOSIS
SEVERE HYPERTELORISMSEVERE HYPERTELORISM
PTOSIS AS SEEN IN 25% OF GIRLS WITH ULLRICH-TURNER SYNDROME, THE MAJORITY OF CHILDREN WITH THE NOONAN ANDSYNDROME, THE MAJORITY OF CHILDREN WITH THE NOONAN AND MORE THAN 50 OTHER DYSMORPHIC SYNDROMES
EXOPHTHALMOS IN THYROTOXICOSIS
ENOPHTHALMOS IN CHILD WITH BLINDNESS AND HYPOPITUITARISM SECONDARY TO BASAL ASTROCYTOMA
CLEFT LIP AND PALATE ASSOCIATED WITH PANHYPOPITUITARISM
C A A S O S OCLEFT PALATE IN SMITH-LEMLI-OPITZ SYNDROME
MID LINE CLEFT AND ABNORMAL NOSE IN HOLOPROSENCEPHALYMAY BE ASSOCIATED PANHYPOPITUITARISMMAY 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 DISEASEIMMUNODEFICIENCY 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 EARS
ABNORMAL HELICAL PATTERN IN PSEUDOHYPOPARATHYROIDISM
SPARSE`HEAD HAIR IN RUSSELL-SILVER SYNDROME
MENKES KINKY WOOL HAIR SYNDROME
HAIR LOSS IN PROGERIAHAIR-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 SYNDROMEPECTUS CARINATUM IN THE NOONAN SYNDROME
A RACHITIC ROSARY IN A CASE OF CYSTINOSIS
SCOLIOSIS 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 BREASTSTHE BREASTS
POLAND SEQUENCE.THERE IS ABSENCE OF THE LEFT PECTORALIS MAJOR ANDTHERE IS ABSENCE OF THE LEFT PECTORALIS MAJOR AND BREAST TISSUE
NEONATAL BREAST ABSCESSNEONATAL BREAST ABSCESS
PHYSIOLOGICAL NEONATAL GYNECOMASTIA
MALE GYNECOMASTIA WITH MODERATE OBESITY
VIRGINAL BREAST HYPERTROPHY (JUVENILE FIBROADENOMA)
ACCESSORY NIPPLE
THE GENITALTANNER STAGE
THE CNS AND EYES
A A C A O A G O APAPILLEDEMA 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 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 SYNDROMELONG 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 HEMIHYPERTROPHYGENERALIZED HEMIHYPERTROPHY
ISOLATED HEMIHYPERTROPHY
OVERGROWTH OF LIMB IN KLIPPEL-TRENAUNAY-WEBER SYNDROME
MULTIPLE NEUROMAS IN NEUROFIBROMATOSIS
CAFÉ AU LAIT SPOTS IN NEUROFIBROMATOSIS, Mc CUNE-CAFÉ AU LAIT SPOTS IN NEUROFIBROMATOSIS, Mc CUNEALBRIGHT 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 SYNDROMESKIN IN EHLERS-DANLOS SYNDROME
CHILD ABUSEC US
DOWNY BODY HAIR IN AARSKOG SYNDROME
HYPERTRICHOSIS
STRIAE IN CUSHING SYNDROME
ATROPHIC SKIN ON HANDS IN PROGERIA
LICHENIFICATION OF SKIN IN PLACENTAL SULFATAS DEFICIENCYLICHENIFICATION OF SKIN IN PLACENTAL SULFATAS DEFICIENCY
RED FISSURED FEET IN 3A SYNDROME
NECROBIOSIS LIPOIDICA, GRANULOMA ANNULARE IN IDDM
DIMPLING OVER TIBIA IN HYPOPHOSPHATASIA
TERIMA KASIH
