Endocrine Abstracts

With congenital hypopituitarism, the clinical manifestations of pituitary hormone deficiencies usually appear during infancy or early childhood. Typically, one or more anterior pituitary hormones are deficient, and the most severe manifestations include neonatal hypoglycemia, electrolyte imbalances and failure to thrive. We present the case of a 43 year old male, with cardiovascular and metabolic comorbidities (arterial hypertension, type 2 diabetes mellitus), with no prior hospitalizations except for an episode of anaphylaxis, that was referred to the department of Endocrinology when a low FT4 was detected (0.5ng/dl) in the presence of a normal TSH. The patient was hemodynamically stable, and clinical examination revelead a height of 182.5 cm (+0.83 SD for age and sex according to national growth charts), weight=81.5 kg, BMI=24.5 kg/m2, pale, dehydrated skin, pectus excavatum, long, thin, laterally deviated fingers, an arched palate, as well as absent secondary sexual characteristics and congenital cryptorchidism. Endocrinological examination revelead corticotroph, tireotroph, gonadotroph and somatotroph insufficiency; undetectable estrogen and testosterone; and a prolactin level towards the lower limit of normal; and substitution treatment with Levothyroxine and Hydrocortisone was promptly initiated. Further evaluation revelead a normal ingestion and output of fluids (~1.5L/day), ruling out diabetes insipidus. Imaging studies included an abdomino-pelvic ultrasound, that releaved hypoechoic, homogenous masses in both the right and the left inguinal canal. Dual X-ray absorption bone densitometry revelead osteoporosis. Bone age was 17 years according to the wrist X-ray. MRI of the sella turcica showed a small remnant pituitary (~4.3mm height) with discreet intrasellar herniation of the suprasellar cisterna. Genetic investigations are currently underway (mlpa p018 SHOX, karyotype). While the hormonal profile and the presence of bilateral cryptorchidism suggests congenital CHPD, a surprising discrepancy was the patients’ normal stature. Based on the existing literature, with around 10 similar cases described up to date, one possible explanation would be a coexisting genetic disorder associated with tall stature, such as [1] Marfan syndrome – rulled out by negative Ghent criteria score and further imaging studies (hand, foot and hip X-ray; echocardiogram; ophthalmological consult), [2] mutations in genes related to tall stature, such as SHOX duplication – genetic tests are ongoing or [3] the total absence of estradiol leaving the growth plates open, allowing growth through mechanisms independent of GH/IGF1, such as hyperinsulinism.