Table 1 Clinical, hormonal, and radiological characteristics; treatment; follow-up and results of the genetic study and family history of endocrine neoplasia characteristics of 7 pediatric patients with pituitary macroadenomas

Sex

Male

Female

Male

Male

Male

Male

Male

Age at diagnosis (years)

15

15

14

8

10

14

15

Anthropometry

W: 41.5kg

(-2.46SDS)

L: 154.2cm

(-1.5SDS)

IMC: 17.45 kg/m2

(-1.29SDS)

W: 63kg (+ 1.36SDS)

L: 152cm (-1.7SDS)

IMC: 27.2 kg/m2

(-1.5SDS)

W: 40.7kg

(-1.59SDS)

L: 151.3cm

(-1.68SDS)

IMC: 17.8 kg/m2

(-0.92SDS)

W: 36.8kg

(-1.63SDS)

L: 152.1cm

(+ 4.3SDS)

IMC: 15.9 kg/m2

(-0.39SDS)

W: 60kg

(+ 2.9SDS)

L: 160cm

(+ 3.3SDS)

IMC: 23.4kg/m2

(+ 1.58SDS)

W: 70kg

(+ 0.99SDS)

L: 180cm

(+ 1.8SDS)

IMC: 21.6 kg/m2

(-0.09SDS)

W: 60kg

(-0.14SDS)

L: 160cm

(-1.1SDS)

IMC: 23.4 kg/m2

(+ 0.57SDS)

Clinical symptoms

Growth retardation, Galactorrhea

Secondary Amenorrhea

Growth retardation

Gigantism

Gigantism

Headache

Polyuria, polydipsia 3L/day

Tanner at diagnosis

P3G3, 12/12cc

S5P5

P3G3, 15/15cc

P1G1, 3/3

P1G1 3/3

G3P3, 15/15

G3P3, 15/15

Visual Defects

Yes

No

No

No

Yes

No

Yes

MRI

Adenoma (15mm)

Adenoma (29mm)

Adenoma (11mm)

Adenoma (16mm)

Adenoma with suprasellar extension (40mm) and cavernous sinus invasion

Adenoma with suprasellar extension (20mm)

Adenoma with suprasellar extension (33mm) and cavernous sinus invasion

Elevated pituitary hormone

Prolactin (583ng/ml)

Prolactin (> 1000ng/ml)

Prolactin (70ng/ml)

IGF1 631ng/ml (+ 3.52 SDS)

IGF1 1115ng/ml (+ 5 SDS)

No

FSH 30U/l (nv: 0.16–3.33 Ui/L)

Adenoma Type

Prolactin secreting PA

Prolactin secreting PA

Prolactin secreting PA

GH-secreting PA

GH-secreting PA

Non-secreting PA

FSH-secreting PA

Other pituitary hormone defects

IGF-I: (154ng/ml (-1.1 SDS)

testosterone: 34ng/dl (nv:300 ± 22 ng/dl)

No

IG-FI: 181ng/ml (-0.6 SDS);

testosterone: 154ng/ml (nv:300 ± 22 ng/dl)

No

No

No

testosterone: 10ng/dl (nv:300 ± 22 ng/dl), cortisol: < 5ug/dl (nv: 16.3 ± 6ug/dl), TSH < 0.1U/l (nv: 1.9 ± 1.28U/l)

Transsphenoidal surgery

No

No

No

Yes

Yes

Yes

Yes

Pathological anatomy

-

-

-

Hormonal immunohistochemical expression and transcription factors compatible with sparsely granulated somatotrophic adenoma, with a prolactin expression focus

Somatotrophic pituitary adenoma

Adenoma with negative immunoreactivity to all pituitary hormones

Adenoma with immunoreactivity to FSH with a 10–20% cell proliferation index and P53 negative. At reintervention same conclusion

Radiotherapy

No

No

No

No

Yes

Yes

Yes

Medical treatment

Cabergoline 3mg/week

Cabergoline 1mg/week

Cabergoline 1mg/week

No

No

No

No

Complications

No

No

No

ACTH deficiency

Secondary panhypopituitarism

Secondary panhypopituitarism

Secondary panhypopituitarism

Follow up

3 months

MRI tumor reduction (19mm)

Prolactin 116ng/ml

2 years

MRI tumor reduction (4mm)

Prolactin 14ng/ml

Cabergoline 0.5mg/week

3 months

MRI tumor stabilization (7mm)

Prolactin 10.9ng/ml

Testosterone: 451ng/ml

6 months

IGF1 110ng/ml (-0.16DS)

MRI secondary changes to surgery

10 years

IGF-I: 107ng/ml(-1SDS)

MRI tumor remnants persist

10 years

MRI tumor remnants persist

10 years

MRI tumor remnants persist

Genetics

In progress

MEN1 Heterozygous change c.249_252delGTCT; p(IIe85Serfs*33

Negative: NF1, AIP, CDKN1B, CDC73, MEN1, RET, PRKAR1A, BRCA1, BECA2, MLH1, MSH2, MSH6

AIP heterozygous change c.811C > T; pArg271Trp

AIP heterozygous change c.811C > T; pArg271Trp

Unrealized

Unrealized

Secondary tumors

No

Parathyroid adenoma

No

No

No

No

No

Family history

No

Sister with parathyroid adenoma and same pathogenic variant

No

Mother has same pathogenic variant without clinical manifestations

Mother and brother have same pathogenic variant without clinical manifestations

Maternal aunt and cousin affected by pituitary adenomas with the same pathogenic variant

No

No