1. 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

2. 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

3. 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

4. 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

5. PEDIGREE CHART

6. 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

7. 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

8. 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 kg/mˆ2
head circumference – 53 cm
arm span 160 cm

9. 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

10. 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

11. 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

12. ELDER Serum LH (2.12-10.89µIU/ml) 0.36 1.63 Serum FSH
NORMAL VALUES
ELDER
YOUNGER
Serum LH
( µIU/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

13. 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

14. MRI PITUITARY OF ELDER SIBLING

16. MRI PITUITARY YOUNGER SIBLING

18. 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

19. Endocrinologist and Gynaecologist opinion obtained

20. DIAGNOSIS
ISOLATED HYPOGONADOTROPHIC HYPOGONADISM probable genetic etiology

21. TREATMENT given
T.Ethinyl estradiol 10 µg hs

22. AIM OF PRESENTATION
Rarity of presentation in siblings
To discuss various causes of primary amenorrhea and hypogonadism

23. THANK YOU 