ISOLATED HYPOGONADOTROPHIC HYPOGONADISM IN SIBLINGS MEDICINE UNIT M3 PROF. DR M NATARAJAN M.D., ASSISTANT PROFESSORS - DR SYED BAHAVUDEEN HUSSAINI M.D.,D.N.B.,FICP., DR P S VALLIDEVI M.D., Presented by DR G SUMATHI
h/o primary amenorrhea Two female siblings of age 36 years and 26 years , born of third degree consanguineous marriage presented with h/o primary amenorrhea
Studied upto 8th standard h/o absent pubic and axillary hair no h/o delay in attaining normal height No h/o headache No h/o vomiting No h/o trauma / irradiation No h/o cyclical abdominal pain No h/o olfactory disturbances No h/o visual disturbances No h/o hearing loss No h/o involuntary movements No h/o hyperphagia
No other co morbid illnesses No h/o drug intake No h/o surgeries in the past ( cleft lip/ palate) No h/o perinatal hypoxia No h/o delayed motor/ language/ social milestones No h/o maternal smoking No h/o delayed puberty in mother/ any other family members
PEDIGREE CHART
EXAMINATION OF ELDER SIBLING Conscious , oriented No pallor/ icterus/ cyanosis/clubbing/ pedal edema/ lymphadenopathy No midline facial deformities Vitals stable Anthropometry - weight – 65 kg height – 157 cm BMI 26 kg/mˆ2 head circumference – 55 cm arm span 166 cm
Breast development Tanner staging B2-B3 No axillary hair Genitals – no pubic hair, no clitoromegaly, labia majora and minora normal, vaginal introitus is pale No goitre Olfactory nerve examination - normal Vision and hearing - normal Other system examination - NORMAL
EXAMINATION OF YOUNGER SIBLING Conscious , oriented No pallor/ icterus/ cyanosis/clubbing/ pedal edema/ lymphadenopathy No midline facial deformities Vitals stable Anthropometry - weight – 58 kg height – 150 cm BMI 25.7 kg/mˆ2 head circumference – 53 cm arm span 160 cm
Breast development Tanner staging B2-B3 No axillary hair Genitals – no pubic hair, no clitoromegaly, labia majora and minora normal, vaginal introitus is pale No goitre olfactory nerve examination - normal Vision and hearing normal Other system examination - NORMAL
INVESTIGATIONS Hb 12.6g/dl 12.3 g/dl TC 8900 7500 DC 66/30/4 63/30/7 COMPLETE HEMOGRAM ELDER YOUNGER Hb 12.6g/dl 12.3 g/dl TC 8900 7500 DC 66/30/4 63/30/7 ESR 69 66 PCV 42.8 38.5 PLATELETS 2.56 lakhs 2.33 lakhs
ELDER YOUNGER RBS 88mg/dl 87 mg/dl S.UREA 18 24 S.CREATININE 0.7 0.8 Urine albumin nil Urine sugar Urine deposits No pus cells
ELDER Serum LH (2.12-10.89µIU/ml) 0.36 1.63 Serum FSH NORMAL VALUES ELDER YOUNGER Serum LH (2.12-10.89µIU/ml) 0.36 1.63 Serum FSH (3.85 – 8.78µIU/ml) 0.78 3.76 Serum prolactin 3.34 –26.72 ng/mL 7.82 4.73 Serum free T4 (o.60 – 1.12 ng/dl) 1 1.02 Serum TSH (0.34 – 5.60µIU/ml 3.42 1.44
USG ABDOMEN AND PELVIS ELDER YOUNGER Very thin hypoplastic uterus measuring 2.7 cm longitudinally and 0.7 cm anteroposteriorly. Endometrium is extremely thin measuring less than 1 mm Both ovaries are imaged and smaller in size with few follicles each measuring 1 to 5 mm. no evidence of adnexal mass lesion No contradictory gonad seen Very thin small hypoplastic uterus measuring 3.8 cm longitudinally and 0.8 cm anteroposteriorly. Endometrium is extremely thin measuring less than 1mm Both ovaries are smaller in size with few follicles each measuring 1 to 5 mm No evidence of adnexal mass lesion No contradictory gonad seen
MRI PITUITARY OF ELDER SIBLING
MRI PITUITARY YOUNGER SIBLING
MRI PITUITARY YOUNGER ELDER Anterior pituitary appears smaller in size and measures 3mm in height, 7mm in AP diameter Posterior pituitary bright spot visualised Impression – pituitary hypoplasia Anterior pituitary smaller in size and measures 5 mm in height and 6.5mm in AP diameter Posterior pituitary bright spot well visualised Impression – pituitary hypoplasia
Endocrinologist and Gynaecologist opinion obtained
DIAGNOSIS ISOLATED HYPOGONADOTROPHIC HYPOGONADISM probable genetic etiology
TREATMENT given T.Ethinyl estradiol 10 µg 1 hs
AIM OF PRESENTATION Rarity of presentation in siblings To discuss various causes of primary amenorrhea and hypogonadism
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