ESPE2023 Poster Category 1 Growth and Syndromes (75 abstracts)
A rare occurrence of non-classic congenital adrenal hyperplasia and type 1 diabetes mellitus in a girl with Prader-Willi Syndrome: Case report and review of the literature
Alessia Aureli 1 , Sarah Bocchini 1 , Michela Mariani 1 , Antonino Crinò 2 , Marco Cappa 1 & Danilo Fintini 1
1Prader-Willi Reference Center, Endocrinology Unit, Bambino Gesù Children Hospital, IRCCS, Rome, Italy. 2Center for Rare Diseases and Congenital Defects, Fondazione Policlinico Universitario A. Gemelli, IRCCS, Rome, Italy
Prader–Willi syndrome (PWS) is a rare genetic disorder resulting from lack of expression of the paternally derived chromosome 15q11–13, associated with several complications, including pubertal disorders, short stature, hyperphagia, obesity, glucose metabolism abnormalities, scoliosis, obstructive sleep apnea syndrome (OSAS) and behavioral problems. We report the case of a girl affected by PWS who presented at the age of 5.9 with premature pubarche, accelerated linear growth and advanced bone age (BA). She was subsequently diagnosed with non-classic congenital adrenal hyperplasia (CAH) confirmed by genetic analysis. Considering the clinical, biochemical, and genetic findings, hydrocortisone therapy was started to prevent rapid BA acceleration and severe compromission of final height. During infancy, short stature and low levels of insulin-like growth factor-1 (IGF-1) for age and gender led to suspicion of growth hormone deficiency (GHD), confirmed by stimulation testing (arginine and clonidine). rhGH therapy was administered and continued until final height was reached. During endocrinological follow up she developed impaired glucose tolerance with positive markers of b-cell autoimmunity (anti-glutamic acid decarboxylase antibodies, GAD Ab), which evolved over time into type 1 diabetes mellitus and insulin therapy with a basal-bolus scheme and an appropriate diet were needed.
| Years | 2.4Δ | 5.9 | 6.3¤ | 7.7* | 8.4 | 9.0# | 15.7^ |
| - | - | - | - | - | - | - | |
| Auxological parameters | |||||||
| Height (SDS) | -2.16 | -1.04 | -0.57 | +0.14 | -0.2 | -0.36 | -1.75 |
| Weight (SDS) | -1.73 | -1.35 | -0.68 | +0.06 | +0.33 | +0.35 | -1.13 |
| BMI (SDS) | +0.04 | -1.0 | -0.45 | +0.16 | +0.7 | +0.8 | -0.15 |
| HV (SDS) | -2.3 | +0.33 | +4.7 | +5.2 | -0.63 | -1.9 | <2.0 cm/yr |
| Pubertal stage | |||||||
| Breast | 1 | 1 | 1 | 2 | 2 | 2 | 3 |
| Pubic hair | 1 | 2 | 2 | 3 | 3 | 3 | 5 | ΔrhGH was started (0,33mg/Kg•d); ¤Patient and her parents were referred for genetic testing for non-classic CAH; *Hydrocortisone was started (20 mg/m2); #Hydrocortisone was reduced (11.5 mg/m2) and rhGH was increased; ^Hydrocortisone and rhGH were gradually reduced and stopped at the ages of 11.8 and 14.7 years, respectively. BMI, body mass index; CAH, congenital adrenal hyperplasia; HV, height velocity; SDS, standard deviation score. |
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