Pseudohypoparathyroidism: Challenges in Early Recognition and Diagnosis of a Rare Hereditary Disorder.

Pseudohypoparathyroidism (PHP) is an uncommon endocrine condition marked by an impaired response to parathyroid hormone (PTH), which results in biochemical abnormalities. Clinical manifestations can vary significantly, occasionally resembling other endocrine disorders. Genetic testing plays a critical role in distinguishing PHP from other conditions, as it enables precise diagnosis even when classical features are not initially present.

Familial Turner syndrome: the importance of information.

Turner syndrome is a common genetic disorder with an incidence of 1 in 2500 live births. Spontaneous fertility is rare in such patients and is most likely in women with mosaicism or very distal Xp deletions. The authors report an unusual case of familial Turner syndrome in a woman with mosaicism 45,X/46,Xdel(Xp) karyotype with three documented spontaneous pregnancies, which resulted in two daughters with 46,Xdel(X)(p11.

Morbid obesity in a child with monosomy 1p36 syndrome.

The monosomy 1p36 syndrome is a cause of syndromic obesity. It is characterised by psychomotor delay, hypotonia and typical craniofacial dysmorphism. Other features commonly associated are behavioural anomalies including hyperphagia and self-injuring, seizures, congenital heart disease and hypothyroidism.