Hyperthyroidism secondary to a hydatidiform mole.

The case presented in the article is that of a 47-year-old female patient with hyperthyroidism induced by a hydatidiform mole. Attention was drawn to the necessity of preparing the patient for a procedure with drugs that stabilize the hormonal activity of the thyroid. The removal of the hydatidiform mole resulted in gradual normalization of thyroid hormone levels. The trophoblast has a hormonal activity, secrete hCG (human chorionic gonadotropin).The hCG partial structural homology causes affinity to the TSH (thyroid stimulating hormone) receptor. The higher the weight of the trophoblast, the higher the production and concentration of hCG in the blood. Therefore, gestational trophoblastic disease may be accompanied by hyperthyroidism. The problem is frequently described, however, due to the risk of developing thyroid storm, it cannot be overlooked [1].

How does terminal 21q22 deletion really manifest? Delineation based on prenatal diagnosis and literature review.

OBJECTIVE: Most genetic disorders, especially rare and manifested with an unspecific constellation of developmental anomalies, are challenging to diagnose before birth. The paper aims to present a rare case of terminal 21q22 deletion to extend the knowledge on this rare genetic disease, mostly to facilitate prenatal guidance by pointing the diagnostic features. CASE REPORT: The fetus was diagnosed prenatally, at 21 weeks of gestation, due to ultrasound markers detected in a routine ultrasound scan. Post-mortem dysmorphological assessment has verified the diagnosis. To the best of our knowledge, this is the second report of prenatal presentation of partial monosomy 21q. CONCLUSION: By giving the detailed phenotype description and presenting a comprehensive literature review on the subject, we delineate its phenotype, which was different from what has been shown in the literature. Specifically, the clinical presentation of aberration within regions 2 and 3 (referring to the term proposed by Lyle et al., in 2009) of 21q22 bands is not characterised by multiple or severe malformations, which matters for prenatal counselling and diagnostics.