Endocrine Abstracts

Purpose: To describe the case of a combination of pituitary hypoplasia and achondroplasia have a child (boy).

Material and methods: Under our outpatient observation is a boy Abdulahatov S., born in 2008, lives in Samarkand. From history: The child was born in the closely related parents’ marriage (sisters’ children). Height at birth 50 cm, weight 3000 g, cried and took the breast immediately. Psycho-motor development – late. Constantly under the supervision of a paediatrician, getting a massage. Addressed to the endocrinologist for the first time in 2014. In RSSPMC Endocrinology MoH patients underwent the following range of studies, including clinical, biochemical studies - complete blood count, radioimmunoassay methods hormonal blood tests (prolactin, IGF1, GH, TSH, cortisol, thyroxine), ECG, ultrasound of internal organs, pituitary MRI, X-ray of hand and spine.

Results and discussion: According to parents, the patient complains of stunting, trouble walking. On examination it was found: objective: Growth 103, 5 cm, weight – 29 kg. Growth Deficit – 20 cm, underweight – 9 kg. Pubertal status: Ah0Rh0, testis 3.0×3.0 ml, penis length of 1.0 cm. On the side of hormonal studies: STG – 1.4 mIU/l (normal in children aged 5–16 years 2.1±0.53 mIU/l, St. T₄ – 124 nmol/L (60–160), TSH – 1.9 mIU/l (normal 0.17±4.05), IGF1 – 101 nmol/l. MRI sella (from 01.12.2014 g) was discovered pituitary hypoplasia: height 0.1 cm anteroposterior size – <0.4, width – up to 0.4 cm. On radiographs of the hand (from 02.12.2014 was): bone age from 3 to 24 months, the appearance of a violation of the sequence of points of ossification. Growth areas are open, narrowed, shortening of the phalanges. Cystic fibrosis? Gipohondroplaziya? On radiographs of the spine (from 02.12.2014 city). S-shaped scoliosis of the spine. Dysplasia of both hips, thighs complicated dislocation on both sides. Thus, on the basis of the foregoing, the clinical diagnosis was exhibited: est. Achondroplasia. Sop. Pituitary hypoplasia. OSL. Growth retardation and skeletal development. S-shaped scoliosis of the spine. Dysplasia of both hips, thighs complicated dislocation on both sides. Patient was recommended to hormone replacement therapy: levothyroxine 50, genetically engineered growth hormone, and thyroid medications, calcium, vit D3. The patient was recommended consultation and treatment and also a podiatrist.

Conclusions: Patients with achondroplasia recommended MRI of the pituitary to identify possible hypo – or aplasia pituitary; 2) In the presence of hypopituitarism in patients with achondroplasia need appropriate hormone replacement therapy.