ESPE2022 Poster Category 2 Thyroid (22 abstracts)
1Department of Pediatrics, Anna Meyer Children Hospital, Florence, Italy; 2Department of Health Science, Anna Meyer Children Hospital, Florence, Italy
Introduction: Thyroid diseases are among the most common endocrine disorders affecting children and adolescents. These conditions are often associated with a wide range of skin disorders such as xerosis, mixedema, hypohidrosis, eczema, and more rarely hypertrichosis.
Case: A 5-year-old female child was referred to our clinic due to short stature, Cushingoid appearance and marked hypertrichosis. At birth length and weight were normal and psychomotor development was regular. Her parents were healthy, non-consanguineous, of Moroccan origin. Her family history revealed no endocrine diseases. Parents reported a 3-months history of mood tone depression. Her physical examination revealed short stature (height -2.85 SDS, ref. WHO 2006) and a BMI above the 90th centile (ref. WHO 2006). She also presented a noticeable hypertrichosis on trunk and limbs whithout development of pubic or axillary hair and breast. External genitalia were normal. Bone age was delayed (3 years according to Greulich & Pyle’s atlas). Blood samples revealed normal levels of IGF-1, testosterone, DHEAs and androstenedione, with slight increase of prolactin (32 ng/ml, reference range: 3-25 ng/mL). Serum and urinary cortisol as well as basal and after stimulus 17-OH progesterone were normal. Thyroid hormones profile revealed fT4 0.039 ng/dL (reference range: 0.9–2.6 ng/dL), TSH >1350 mU/l (reference range: 0.8–6.4 mU/L). Autoantibodies levels were elevated (anti-thyroid peroxidase antibodies 217 U/l and anti-thyroglobulin antibodies 246 U/L). Sodium-L-Thyroxine was given (2 µg/kg/day) and the thyroid function tests became normal (free T4 1.6 ng/dl, TSH 6.48 mU/mL) within 21 days. During three months her hypertrichosis improved progressively.
Discussion: Hashimoto’s thyroiditis is the most common thyroid disease of children and adolescents. It may be characterized by euthyroidism, the most common initial pattern (about 52% of patients), overt hypothyroidism (22.2%) or subclinical hypothyroidism (19.2%). Hypertrichosis or hirsutism as manifestations of juvenile hypothyroidism has been described first time by Perloff, that demonstrated a good response to thyroxine replacement therapy in four children as in our case. However, data on association between hypothyroidism and hypertrichosis in pediatric age are still limited and the pathophysiology of this relationship is difficult to explain.
Conclusions: A full assessment of thyroid function must be carried out in all cases of child hypertrichosis.