Page 202 - Abstract Book KONIKA 18

Endocrinology

P-ENDO-051
Diagnosis and Management of 46 XX Disorders of Sex Development Aromatase
Deficiency in Resource-Restricted Setting

Luh Ayu Asri Wijani, Muhammad Faizi, Nur Rochmah.
Department of Child Health, Faculty of Medicine Universitas Airlangga/Dr. Soetomo General Academic Hospital,
Surabaya, East Java, Indonesia

Absstract
Background 46,XX DSD Aromatase deficiency (AroD) is a congenital atypical development of chromosomal,
gonadal or anatomic sex. Definitive diagnosis AroD established by CYP19A1 mutation analysis, however the
diagnosis is challenging due to the lack of a resource-restricted setting. Objective To establish the diagnosis
of AroD and its management in resource-restricted setting. Case A 12-year-old reared as a boy, presenting
with ambiguous genitalia, a small size of penis and almost complete labioscrotal fusion with a single perineal
opening consist of Prader stage III genitalia. He underwent Urologic USG, abdominal laparoscopic and
karyotyping, revealed no sign of both testis on inguinal nor scrotum, normal size of ovary, fallopian tube
and uterus, and chromosome analysis 46,XX. Congenital adrenal hyperplasia(CAH) was excluded by sign
virilized female, no hypertension, normal electrolyte serum dan 17OH-P. Disorder of ovarian development
was excluded by sign normal Mullerian structure and inadequate response hCG test. Before pregnacy the
mother had hormonal therapy for 3 months and suffered from severe acne during pregnancy. The combination
of maternal virilization, in-utero virilization and features of estrogen deficiency strongly suggested Aromatase
Deficiency. Gender assingment was conducted by an interdisciplinary team work, the parent decided to
reassignment gender to female. Hormone replacement therapy was administered followed by feminization
surgery. Conclusion In resource-restricted setting, the diagnosis of AroD was established by excluded the
others causa of 46,XX DSD and its management consist of gender assignment, hormone replacement therapy
and reconstruction surgery.
Keywords: 46 XX DSD; aromatase deficiency

P-ENDO-052
Hypocalcemic Seizure caused by Vitamin D Deficiency in Infant

Fatimah Arief, Nur Rochmah, Muhammad Faizi, Prastiya Indra Gunawan, Riza Noviandi
Department of Child Health, Faculty of Medicine Universitas Airlangga/Dr. Soetomo General Academic Hospital,
Surabaya, East Java, Indonesia
Abstract
Background Hypocalcemia is a major biochemical cause of seizures in infancy in the developing countries.
Vitamin D deficiency is common in children, but seizure is rare manifestation of it. While vitamin D
deficiency in children usually presents as rickets, when severe such deficiency may result in hypocalcemic
seizures. Objective To report a case of hypocalcemic seizure caused by vitamin D deficiency in infant.
Case A 2-month-old infant presented to emergency department with generalized seizure. The seizure was
the third period since he was 40-day-old. The laboratory examination revealed hypocalcemia (3.4 mmol/L),
normal albumin serum, elevated PTH level (235.9 pg/mL), decreased of vitamin D (13.8 ng/dL), and normal
renal function. His mother was a housewife who had not taken any vitamin D during pregnancy or lactation
and the patient consumed phenobarbital since 1 month-old because of history of seizure before. The patient
was given infusion of 10% of calcium gluconate. To maintain the calcium homeostasis, along with 5000 IU
of vitamin D3 daily and calcium gluconate was given orally. The treatment resulted in complete stabilization
of the infant’s condition and rapid improvement in laboratory. After 6 months of treatment, the seizure was
disappeared and level of vitamin D (25-hydroxy vitamin D) was normal (80 ng/dL). Conclusion Generalized
seizure in the afebrile infant represent a serious and etiopathogenically heterogeneous problem. Although
rare, vitamin D deficiency can cause seizure. In hypocalcemic patient, vitamin D should also be checked.
Keywords: vitamin D deficiency; hypocalcemia; seizure

154 KONIKA XVIII Abstract Book