ESPE Abstracts

Background: Tall stature is defined as height >02 S.D. above the population mean. The most common cause is normal familial tall stature, but some cases are pathological and require special attention.

Observations: We report four clinical cases corresponding to four diagnostic categories. We describe the diagnostic approach and difficulties encountered through these cases.

Case 1: A boy aged 25 months was referred for large size, He had a history of repeated hypoglycaemia. Examination revealed: weight: 19 kg (2+ DS), Height: 101 cm (+4.5DS), Tanner: G2P3A1, testicles volume: 04 ml and a bone age of 04 years. Hormonal status: FSH: 5.5 mui/ml (<4.6), LH: 3.9 mui/ml (<3.6), testosterone: 03 ng/ml (2.8–8), Abdominal ultrasound showed bilateral adrenal hyperplasia. A diagnosis of Beckwith Wiedemann syndrome with central precocious puberty was made.

Case 2: A 13-year-old patient from a consanguineous family was referred with tall stature, Hight: 170 cm (>+2.5 S.D.), weight 80 kg >+3 S.D.), BMI: 27.6 kg/m², facial dysmorphism associated with mental retardation, gynecomastia and micropenis, Karyotype showed a 47 XXY.

Case 3: A 16 year old girl 46XX, was referred for delayed puberty. On examination, Height: 176 cm (>+2 S.D.), weight: 64 kg (M), BMI: 20.66 kg/m². Tanner B1P5. Pelvic ultrasonography showed multicystic ovaries with a small uterus. The hormonal profile showed plasma 17β-estradiol level of 9035 pmol/l (normal 120 to 300 pmol/l during early follicular phase), (LH: 24 IU/l (N: 2 to 8 IU/l), FSH: 13 IU/l (N: 2 to 10 IU/l)), suggesting an estrogen resistance syndrome confirmed by genetic studies which showed a c.1181G>A mutation at 394 (Arg 394His) of the ESR1 ligand-binding domain.

Case 4: A 16-year-old girl from a 2nd degree consanguineous family and a history of epilepsy, was referred for delayed puberty. Clinical examination showed: Height: 175 cm >+2DS), mental retardation, hypoplastic labia minor, Tanner: B2P2. Hormonal profile revealed primary gonadal failure with LH: 0.12 mui/ml (N: 2.4 – 12.5 FP) FSH: 0.29 mui/ml (N: 3.5 – 12.5 PF), estradiol: 3.5 ng/ml (N:12.5 – 166 PF). The Karyotype was 47 XXX, indicating triple X syndrome.

Discussion and conclusion: Physicians should always search for a pathological cause of tall stature. A systematic approach allows an early diagnostic of these pathologies and thus better screening for complications.