SFEEU2022 Society for Endocrinology Clinical Update 2022 Workshop B: Disorders of growth and development (6 abstracts)
Southampton General Hospital, Southampton, United Kingdom
18 year old student was referred by the Gynaecology team with primary amenorrhoea, delayed puberty, and minimum breast development.
History: The patient was born by an emergency caesarean section with a birth weight of eight pounds and four ounces. She had a normal development during infancy and childhood and there was no reported developmental delay in the family. She had adrenarche at the age of ten with a normal appearance of axillary and pubic hair. Unfortunately, she developed severe anorexia nervosa at the age of eleven and needed admission to the hospital. Since after that she has had very minimum physical development. Her mother is 168 centimetres and her father is 178 centimetres respectively.
Examination: Her body weight was 48 kilograms with a height of 151 centimeters with a BMI of 19. She had a pre-pubertal body shape with Tanner stage II breast and Tanner stage III pubic hair.
Investigations: Karyotype: 46 XX X-ray Hand & Wrist: Chronological age - 18 years 9 months, Bone age - 15 years Transabdominal USS: Anteverted Uterus with 55 x 19 x 33 mm with 3mm endometrium thickness. Unremarkable ovaries. MRI pituitary: No pituitary or hypothalamic abnormality.
Prolactin (57-56.1) | 111 mu/l |
IGF-1 (13.7-45.0) | 19.2 nmol/l |
Cortisol | 268 nmol/l |
TSH (0.34-5.6) | 22.2 mu/l |
FT4 (7.9-13.6) | 7.8 pmol/l |
FSH | 9.4 iu/l |
LH | 2.7 iu/l |
Oestradiol | 121 pmol/l |
DHEA (1.7-8.4) | 6.10 umol/l |
Androstenedione (1.6-7.5) | 3.0 nmol/l |
Before puberty Induction | After puberty Induction | |
Height (Centimetres) | 151 | 156.5 |
Weight (Kilogram) | 48 | 62 |
BMI | 21.1 | 25.5 |
Pelvis USS | 55x19x33 mm uterus with | 86x46x44 mm uterus with |
3 mm endometrium | 5 mm endometirum | |
Bone Age (Years ) | 15 | 16.5 |
Pubertal stage: Breast | Tanner II | Tanner IV |
Pubic hair | Tanner III | Tanner IV |
Menstruation | Amenorrhoea | 1x menstrual bleed |
Treatment: According to patient preference, induction of puberty by using 1 mg oestradiol validate tablets with starting dose of 0.25 mg for six months followed by 0.25 mg increment every six months until achieving 1 mg dose. She was reassessed ten months following the treatment.
Oestradiol was increased to 1 mg with the introduction of Utrogestan 200 mg twelve days for every one to three months for six months. As she had a withdrawal bleed with achieving normal BMI with the recovery of the Hypothalamo-pituitary-gonadal axis and reasonable breast development, the replacement therapy was discontinued after 14 months of treatment.