ESPE Abstracts (2022) 95 P2-22

ESPE2022 Poster Category 2 Adrenals and HPA Axis (27 abstracts)

Two Familial Cases of Congenital Adrenal Hyperplasia Combined or Complicated with Central Precocious Puberty

Renata Markosyan & Yelena Aghajanova

Yerevan State Medical University, Yerevan, Armenia

Central precocious puberty (CPP) may be secondary to congenital adrenal hyperplasia (CAH), due to 21-hydroxylase deficiency. CPP in CAH may be associated with elevated sex-steroid levels and possibly a decline in negative sex-steroid feedback after treatment initiation. We experienced the two family cases of the salt-wasting form of the CAH, complicated by CPP with early maturation of the hypothalamic-pituitary-gonadal axis in all patients from two families.

Family 1: Patient 1. The diagnosis of the salt-wasting form of CAH was established at the age of 4. Replacement therapy with glucocorticoids and mineralocorticoids was assigned. At the age of 6, the growth velocity was 9 cm/y, sexual development matched 3 stage by Tanner’s classification. CPP was diagnosed and therapy with prolonged analogs of gonadotropin-releasing hormone has been assigned. Patient 2. Diagnosis CAH, salt-wasting form, was established at the age of 2. Replacement therapy with glucocorticoids and mineralocorticoids was assigned. After 6 months, both clinical and laboratory investigations were done. By the time, there was also noticed the presence of central precocious puberty, and a gonadotropin-releasing hormone stimulation test was carried out, which showed a pubertal response. The molecular genetic examination of the gene CYP21A2 to common mutations determined mutation I2spl in homozygote form in two brothers.

Family 2: Patient 1. At the age of 2 salt-wasting form of CAH was diagnosed treat form within glucocorticoid and mineralocorticoid was started. Acceleration of bone age continued. After 1 year of CAH treatment, CPP was established and treatment was started. The brother of this girl also has CAH and the diagnosis was made at birth. Treatment was started immediately. But at the age of 4 diagnoses of CPP was established and treatment of CPP was initiated. CAH was confirmed by genetic analysis, mutation of V281L in homozygote form in sister and brother was found.

Conclusion: CPP can be a complication of CAH due the to late age of diagnosis, especially in countries where a routine neonatal screening program for this condition is missing. Regarding our first family, the diagnosis of two brothers also was delayed. But in the second family diagnosis of brother was established at birth and treatment was started immediately. Despite it, CPP started. Further studies are needed to examine the possible contribution of genetic factors.

Volume 95

60th Annual ESPE (ESPE 2022)

Rome, Italy
15 Sep 2022 - 17 Sep 2022

European Society for Paediatric Endocrinology 

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