ESPE Abstracts (2018) 89 P-P3-293

Two Identical Twins … But not in Everything. A Difficult Diagnosis

Chiara Maria Damia, Dario Gallo, Cristina Partenope, Marco Pitea, Lorenzo Fioretti, Marta Adavastro, Roberta Pajno, Giovanna Weber & Graziano Barera


Vita Salute San Raffaele University – Pediatric Department San Raffaele Hospital, Milano, Italy


GR and GT are diamniotic monochorial preterm twins (32 GA), both AGA (GR: W -1 SDS, L -1.5 SDS; GT: W and L 0 SDS), with normal karyotype and array-CGH on amniotic fluid, with no major complications associated to prematurity. At birth GT presented bilaterally cryptorchidism associated with micropenis, GR presented normal male genitalia. In the first year of life a severe growth deceleration in length (from -3SDS to -5 SDS) was observed, mainly after six months of life in both brothers. At 9 months GT was sent for endocrinological evaluation, he presented: baby doll facies, weight and length around -3 SDS, penis 20×11 mm, left testicle in scrotum, right testicle in inguinal canal, which could be brought in scrotum. He underwent: LHRH test LH <0.1 … 3.8 mUI/ml, FSH 0.8 … 4.9 mUI/ml; Inibine B and AMH were normal. HCG test was adequate (testosterone <0.025 … 4.74 ng/ml, di-hydrotestosterone 5.6 … 479 pg/ml) (*). A hypogonadotropic hypogonadism (HH) could not be excluded. At 1 year 3 months a wider hormonal evaluation for hypopituitarism was performed in both brothers (Table 1). At 1 year and 7 months also GT started L-thyroxine treatment, for low FT4 values. Currently both brothers are waiting for low-dose ACTH test to evaluate ACTH deficiency, for persistent asthenia and suspected occasional hypoglycemias. NGS revealed in both brothers unexpected results: heterozygous variants for ACAN and RAF1. We concluded for multiple pituitary deficiencies in both brothers with different expression: despite a common genotype a certain variability is observed, possibly related to epigenetic involvement. Currently a genetic cause of hypopituitarism has not been found. In these patients a careful hormonal monitoring is required, in order to early diagnose the possible onset of new pituitary defects in time.

Table 1
GRGT
Height (SDS)−4.8−5.2
IGF1 ng/ml (15–200)<15<15
Glucose mg/dl (70–100)2729
ACTH pg/ml (7.2–52)19.121.2
Cortisol ng/ml (48–195)207208
TSH mcUI/ml (0.25–5)1.152.83
FT4 ng/dl (0.93–1.7)0.84 … 0.81.1
LH mUI/ml<0.3*
FSH mUI/ml0.8*
Testosterone ng/ml<0.025*
Urine analysisNormalNormal
Brain MRISmall hypophysis – ectopic neurohypophysis – cerebellar vermis anomalySmall hypophysis – ectopic neurohypophysis
DiagnosisGHD Central hypothyroidismGHD HH suspected
TreatmentGH 0.2 mg/kg/sett L-thyroxine 2 mcg/kg/dayGH 0.2 mg/kg/sett Testosterone: 25 mg i.m.monthly for 3 months
Delta H SDS after 12 months of GH treatment+2.92 SDS+3.73 SDS

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