Endocrine Abstracts

A 21 years old man had growth failure since 11 y.o., micropenis, high-pitched voice, the absence of secondary sex characteristics and male sexual behavior, constant fatigue and weakness. The boy was born in time after 1st normal pregnancy, birth weight 3000 g, length 57 cm, had unilateral cryptorchidism (surgical treatment in 2002). At the age of 21 the height of the patient was 144 cm (SDS - 4.62), BMI 15 kg/m² (BMI SDS −3.89), Tanner G1P1, bone age 13 y.o. Inborn hypopituitarism as a result of inborn pituitary dystopia was diagnosed: GH deficiency (GH 0.38 ng/ml (0.5–5.0), IGF1 <25 ng/m (94–252)), ACTH deficiency (ACTH <1,1 pmol/l (0–10.2), cortisol (in blood) 55,5 nmol/l (119–618), daily urine free cortisol excretion - 10 nmol/day (20–200)), TSH deficiency (free T4 - 9,9 pmol/l (10–23.2), TSH - 0.63 μIU/l (0.4–4.0)), gonadotropin deficiency (LH - 2.3 IU/l (0.6–12), FSH - 2.3 IU/l (1.0 - 12.0), total testosterone 0.07 ng/ml (3–12)). MRI showed neurohypophysis dystopia in the floor of third ventricle, total absence of the infundibulum, small adenohypophysis (9x10x3 mm). Replacement therapy was started with recombinant GH 0.033 mg/kg per day s.c., hydrocortisone 7,5 mg/day. After establishing adequate adrenal function thyroid-replacement therapy was given: Levothyroxine 50 μg per day. Testosterone replacement therapy was started with Sustanon 0.2 ml by intramuscular injections every 4 weeks. Perspectives: The GH replacement therapy will be effective until the epiphyseal plates closure. Testosterone replacement therapy will help to maintain androgenic anabolic effects, although its efficacy in development of the external genitalia is questionable due to the age of the patient. Hypocorticism and hypothyrosis replacement therapy can show clinical efficacy and significantly improve the quality of life. Performing genetic test in patient and relatives is planned.

Conclusion: This case shows the importance of strict growth curves monitoring in children, highlights necessity of early diagnosing and treatment of hypopituitarism.

Declaration of interest: The authors declare that there is no conflict of interest that could be perceived as prejudicing the impartiality of the research project.

Funding: This research did not receive any specific grant from any funding agency in the public, commercial or not-for-profit sector.